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Archive for the ‘Biological Networks’ Category

Secret Maoist Chinese Operation Conquered Malaria

Larry H. Bernstein, MD, FCAP, Curator

LPBI

Secret Maoist Chinese Operation Conquered Malaria — and Won a Nobel

10/07/2015 – Jia-Chen Fu, Emory University

http://www.scientificcomputing.com/articles/2015/10/secret-maoist-chinese-operation-conquered-malaria-%E2%80%94-and-won-nobel?et_cid=4866514&et_rid=535648082

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This photo taken September 23, 2011, and released by Xinhua News Agency on October 5, 2015, shows Chinese pharmacologist Tu Youyou posing with her trophy after winning the Lasker Award, a prestigious U.S. medical prize, in New York. Three scientists from Ireland, Japan and China won the 2015 Nobel Prize in medicine on October 5 for discovering drugs against malaria and other parasitic diseases that affect hundreds of millions of people every year. Tu was awarded the prize for discovering artemisinin, a drug that has helped significantly reduce the mortality rates of malaria patients. (Wang Chengyun/Xinhua via AP)

At the height of the Cultural Revolution, Project 523 — a covert operation launched by the Chinese government and headed by a young Chinese medical researcher by the name of Tu Youyou — discovered what has been the most powerful and effective antimalarial drug therapy to date.

Known in Chinese as qinghaosu and derived from the sweet wormwood (Artemisia annua L.), artemisinin was only one of several hundred substances Tu and her team of researchers culled from Chinese drugs and folk remedies and systematically tested in their search for a treatment to chloroquine-resistant malaria.

How Tu and her team discovered artemisinin tells us much about the continual Chinese effort to negotiate between traditional/modern and indigenous/foreign.

Indeed, contrary to popular assumptions that Maoist China was summarily against science and scientists, the Communist party-state needed the scientific elite for certain political and practical purposes.

Medicine, particularly when it also involved foreign relations, was one such area. In this case, it was the war in Vietnam and the scourge of malaria that led to the organization of Project 523.

North Vietnamese soldiers had to deal with disease as well as the enemy. manhhai, CC BY

North Vietnamese soldiers had to deal with disease

North Vietnamese soldiers had to deal with disease

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A request from Vietnam and a military answer

As fighting escalated between American and Vietnamese forces throughout the 1960s, malaria became the number one affliction compromising Vietnamese soldier health. The increasing number of chloroquine-resistant malaria cases in the civilian population further heightened North Vietnamese concern.

In 1964, the North Vietnamese government approached Chinese leader Mao Tse Tung and asked for Chinese assistance in combating malaria. Mao responded, “Solving your problem is the same as solving our own.”

From the beginning, Project 523, which was classified as a top-secret state mission, was under the direction of military authorities. Although civilian agencies were invited to collaborate in May 1967, military supervision highlighted the urgent nature of the research and protected it from adverse political winds.

The original three-year plan produced by the People’s Liberation Army Research Institute aimed tointegrate far and near, integrate Chinese and Western medicines, take Chinese drugs as its priority, emphasize innovation, unify plans, divide labor to work together.

The medical mission

Project 523 had three goals: the identification of new drug treatments for fighting chloroquine-resistant malaria, the development of long-term preventative measures against chloroquine-resistant malaria, and the development of mosquito repellents.

To achieve these ends, research on Chinese drugs and acupuncture was integral.

The decision to investigate Chinese drugs was not without precedent. Back in 1926, Chen Kehui and Carl Schmidt of the Peking Union Medical College published their original paper on ephedrine, derived from Chinese herb mahuang. It ignited a research fire in which more than 500 scientific papers on ephedrine (for relief for asthma) appeared around the world by 1929.

In the 1940s, state interest in the Chinese drug changshan and its antimalarial properties led to the establishment of a state-funded research institute and experimental farm in Sichuan province.

Project 523’s embrace of Chinese materia medica — the traditional body of knowledge about substances’ healing properties — is a more recent example of the efforts to “scientize” Chinese medicine through selective appropriation and detailed investigation.

Biomedical interest in Chinese drugs was not in itself new. But the institutional climate within which Project 523 investigators worked was different from earlier antimalarial research efforts. The Vietnam War had exacerbated an epidemiological crisis to which Maoist China responded with nationalist fervor by turning to its institutions of traditional Chinese medicine.

In the 1960s, such institutions were a mixing ground of specialists, many of whom possessed more than a passing familiarity with Chinese medicine and biomedicine. This ensured that qinghao research proceeded within a climate in which scientists, “who themselves had learnt the ways of appreciating traditional knowledge, worked side by side with historians of traditional medicine, who had textual learning.”

Tons of Artemisia annua are grown annually in China today. Novartis AG, CC BY-NC-ND

Tons of Artemisia

Tons of Artemisia

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Tu Youyou’s story

Tu Youyou’s research fits within this Maoist story of medical systematization and standardization.

Born in 1930, she was a medical student during the 1950s, when state efforts to make Chinese medicine scientific through the research and expertise of biomedical researchers were especially acute. She rose to the head of a malaria research group at the Beijing Academy of Traditional Chinese Medicine in 1969.

The group was composed of phytochemical researchers who studied the chemical compounds that occur naturally in plants and pharmacological researchers who focused on the science of drugs. They began with a list of over 2,000 Chinese herbal preparations, of which 640 preparations were found to have possible antimalarial activities. They worked steadily and obtained more than 380 extracts from some 200 Chinese herbs, which they then evaluated against a mouse model of malaria.

Of the 380+ extracts they had obtained, a qinghao (Artemisia annua L.) extract appeared promising, but inconsistently so. Faced with varying results, Tu and her team returned to the existing materia medica literature and reexamined each instance in which qinghao appeared in a traditional recipe.

Tu was drawn to one particular reference made by Ge Hong 葛洪 (284-363) in his fourth-century BC text, Emergency Prescriptions One Keeps Up One’s Sleeve. Ge Hong instructed: take a bunch of qing hao and two sheng [2 x 0.2 liter] of water for soaking it, wring it out to obtain the juice, and ingest it in its entirety.

Chinese woodcut portrait of Ge Hong. Gan Bozong via Wellcome Images, CC BY

Chinese woodcut portrait of Ge Hong

Chinese woodcut portrait of Ge Hong

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In what can be characterized as her eureka moment, Tu had the idea that “the heating involved in the conventional extraction step we had used might have destroyed the active components, and that extraction at a lower temperature might be necessary to preserve antimalarial activity.” Herhunch proved correct; once they switched to a lower-temperature procedure, Tu and her team obtained much better and more consistent antimalarial activity with qinghao. By 1971, they had obtained a nontoxic and neutral extract that was called qinghaosu or artemisinin. It was 100 percent effective against malarial parasites in animal models.

Tu’s research has drawn accolades from the international scientific community, while also igniting adebate in the Chinese language media about the celebration of individual inventors over collective group efforts.

Tu Youyou poses with Chinese officials after the announcement of her Nobel Prize. China Daily China Daily Information Corp – CDIC/Reuters

This too, perhaps, may be part of the legacy of Maoist mass science, which demanded research that served practical needs and engaged the masses. Scientific achievement, while important, was not the be-all, end-all of scientific work. During the Cultural Revolution, it mattered that science proceed along revolutionary lines. It mattered that scientific advances resulted from collective endeavor and drew from popular sources. Does it still?

Jia-Chen Fu, Assistant Professor of Chinese, Emory University. This article was originally published on The Conversation. Read the original article.

The discovery of artemisinin (qinghaosu) and gifts from Chinese medicine

Youyou Tu

Lasker~DeBakey Clinical Medical Research Award
© 2011 Nature America, Inc. All rights reserved.
1218 volume 17 | number 10 | october 2011 nature medicine

Youyou Tu is at the Qinghaosu Research Center, Institute of Chinese Materia Medica, China Academy of Chinese Medical Sciences, Beijing, China.
e-mail: youyoutu1930cn@yahoo.com.cn

Joseph Goldstein has written in this journal that creation (through invention) and revelation (through discovery) are two different routes to advancement in the biomedical sciences1. In my work as a phytochemist, particularly during the period from the late 1960s to the 1980s, I have been fortunate enough to travel both routes. I graduated from the Beijing Medical University School of Pharmacy in 1955. Since then, I have been involved in research on Chinese herbal medicine in the China Academy of Chinese Medical Sciences (previously known as the Academy of Traditional Chinese Medicine). From 1959 to 1962, I was released from work to participate in a training course in Chinese medicine that was especially designed for professionals with backgrounds in Western medicine. The 2.5-year training guided me to the wonderful treasure to be found in Chinese medicine and toward understanding the beauty in the philosophical thinking that underlies a holistic view of human beings and the universe.

Discovery of antimalarial effect of qinghao

Malaria, caused by Plasmodium falciparum, has been a life-threatening disease for thousands of years. After the failure of international attempts to eradicate malaria in the 1950s, the disease rebounded, largely due to the emergence of parasites resistant to the existing antimalarial drugs of the time, such as chloroquine. This created an urgent need for new antimalarial medicines. In 1967, a national project against malaria was set up in China under the leadership of the Project 523 office. My institute quickly became involved in the project and appointed me to be the head of a malaria research group comprising both phytochemical and pharmacological researchers. Our group of young investigators started working on the extraction and isolation of constituents with possible antimalarial activities from Chinese herbal materials. During the first stage of our work, we investigated more than 2,000 Chinese herb preparations and identified 640 hits that had possible antimalarial activities. More than 380 extracts obtained from ~200 Chinese herbs were evaluated against a mouse model of malaria. However, progress was not smooth, and no significant results emerged easily. The turning point came when an Artemisia annua L. extract showed a promising degree of inhibition against parasite growth. However, this observation was not reproducible in subsequent experiments and appeared to be contradictory to what was recorded in the literature. Seeking an explanation, we carried out an intensive review of the literature. The only reference relevant to use of qinghao (the Chinese name of Artemisia annua L.) for alleviating malaria symptoms appeared in Ge Hong’s A Handbook of Prescriptions for Emergencies: “A handful of qinghao immersed with 2 liters of water, wring out the juice and drink it all” (Fig. 1). This sentence gave me the idea that the heating involved in the conventional extraction step we had used might have destroyed the active components, and that extraction at a lower temperature might be necessary to preserve antimalarial activity. Indeed, we obtained much better activity after switching to a lower temperature procedure.

Figure 1 A Handbook of Prescriptions for Emergencies by Ge Hong (284–346 CE). (a) Ming dynasty version (1574 CE) of the handbook. (b) “A handful of qinghao immersed with 2 liters of water, wring out the juice and drink it all” is printed in the fifth line from the right. (From volume 3.)

Beyond artemisinin Dihydroartemisinin was not initially considered a useful therapeutic agent by organic chemists because of concerns about its chemical stability. During evaluation of the artemisinin
covery of artemisinin was the first step in our advancement—the revelation. We then went on to experience the second step—creation— by turning the natural molecule into a drug. We had found that, in the genus Artemisia, only the species A. annua and its fresh leaves in the alabastrum stage contain abundant artemisinin. My team, however, used an Artemisia local to Beijing that contained relatively small amounts of the compound. For pharmaceutical production, we urgently required an Artemisia rich in artemisinin. The collaborators in the nationwide Project 523 found an A. annua L. native to the Sichuan province that met this requirement. The first formulation we tested in patients was tablets, which yielded unsatisfactory results. We found out in subsequent work that this was due to the poor disintegration of an inappropriately formulated tablet produced in an old compressing machine. We shifted to a new preparation—a capsule of pure artemisinin—that had satisfactory clinical efficacy. The road leading toward the creation of a new antimalarial drug opened again.

Spreading the word

In addition to problems of production and formulation, we also faced challenges regarding the dissemination of our findings to the world. The stereo-structure of artemisinin, a sesquiterpene lactone, was determined with the assistance of a team at the Institute of Biophysics, Chinese Academy of Sciences, in 1975. The structure (Fig. 3) was first published in 1977
commentary (ref. 2), and both the new molecule and the paper were immediately cited by the Chemical Abstracts Service in the same year. However, the prevailing environment in China at the time restrained the publication of any papers concerning qinghaosu, with the exception of several published in Chinese2–20. Fortunately, in 1979, the China National Committee of Science and Technology granted us a National Invention Certificate in recognition of the discovery of artemisinin and its antimalarial efficacy. In 1981, the fourth meeting of the Scientific Working Group on the Chemotherapy of Malaria, sponsored by the United Nations Development Programme, the World Bank and the World Health Organization (WHO), took place in Beijing (Fig. 4). During a special program for research and training in tropical diseases, a series of presentations on qinghaosu and its antimalarial properties elicited enthusiastic response. As the first speaker of the meeting, I presented our report “Studies on the Chemistry of Qinghaosu.” The studies disclosed on this presentation were then published in 1982 (ref. 10). The efficacy of artemisinin and its derivatives in treating several thousand patients infected with malaria in China attracted worldwide attention in the 1980s 21. We subsequently separated the extract into its acidic and neutral portions and, at long last, on 4 October 1971, we obtained a nontoxic, neutral extract that was 100% effective against parasitemia in mice infected with Plasmodium berghei and in monkeys infected with Plasmodium cynomolgi. This finding represented the breakthrough in the discovery of artemisinin.

From molecule to drug

During the Cultural Revolution, there were no practical ways to perform clinical trials of new drugs. So, in order to help patients with malaria, my colleagues and I bravely volunteered to be the first people to take the extract. After ascertaining that the extract was safe for human consumption, we went to the Hainan province to test its clinical efficacy, carrying out antimalarial trials with patients infected with both Plasmodium vivax and P. falciparum. These clinical trials produced encouraging results: patients treated with the extract experienced rapid disappearance of symptoms—namely fever and number of parasites in the blood—whereas patients receiving chloroquine did not. Encouraged by the clinical outcome, we moved on to investigate the isolation and purification of the active components from Artemisia (Fig. 2). In 1972, we identified a colorless, crystalline substance with a molecular weight of 282 Da, a molecular formula of C15H22O5, and a melting point of 156–157 °C as the active component of the extract. We named it qinghaosu (or artemisinin; su means “basic element” in Chinese).

Figure 2 Artemisia annua L. (a) A hand-colored drawing of qinghao in Bu Yi Lei Gong Pao Zhi Bian Lan (Ming Dynasty, 1591 CE). (b) Artemisia annua L. in the field.

Figure 3 Artemisinin. (a) Molecular structure of artemisinin. (b) A three-dimensional model of artemisinin. Carbon atoms are represented by black balls, hydrogen atoms are blue and oxygen atoms are red. The Chinese characters underneath the model read Qinghaosu.

Figure 4 Delegates at the fourth meeting of the Scientific Working Group on the Chemotherapy of Malaria in Beijing in 1981. Professor Ji Zhongpu (center, first row), president of the Academy of Traditional Chinese Medicine, delivered the opening remarks to the meeting. The author is in the second row (fourth from the left).

In keeping with Goldstein’s view, we found that dihydroartemisinin was more stable and ten times more effective than artemisinin. More importantly, there was much less disease recurrence during treatment with this derivative. Adding a hydroxyl group to the molecule also introduced more opportunities for developing new artemisinin derivatives through esterification.

My group later developed dihydroartemisinin into a new medicine. Over the past decade, my colleagues and I have explored the use of artemisinin and dihydroartemisinin for the treatment of other diseases22–33.

The history of the discovery of qinghaosu and the knowledge we gained about the molecule and its derivatives during the course of our studies are summarized in the book Research on Qinghaosu and Its Derivatives (in Chinese)34. In 2005, the WHO announced a switch in strategy to artemisinin combination therapy (ACT). ACT is currently widely used, saving many lives, mostly those of children in Africa. The therapy markedly reduces the symptoms of malaria because of its antigametocyte activity.

Other gifts from Chinese medicine Artemisinin, with its unique sesquiterpene lactone created by phytochemical evolution, is a true gift from old Chinese medicine. The route to the discovery of artemisinin was short compared with those of many other phytochemical discoveries in drug development. But this is not the only instance in which the wisdom of Chinese medicine has borne fruit. Clinical studies in China have shown that arsenic, an ancient drug used in Chinese medicine, is an effective and relatively safe drug in the treatment of acute promyelocytic leukemia (APL)35. Arsenic trioxide now is considered the firstline treatment for APL, exerting its therapeutic effect by promoting the degradation of promyelocytic leukemia protein (PML), which drives the growth of APL cells36. Huperzine A, an effective agent for treatment of memory dysfunction, is a novel acetylcholinesterase inhibitor derived from the Chinese medicinal herb Huperzia serrata37, and a derivative of huperzine A is now undergoing clinical trails in Europe and the United States for the treatment of Alzheimer’s disease. However, the use of a single herb for the treatment of a specific disease is rare in Chinese medicine. Generally, the treatment is determined by a holistic characterization of the patient’s syndrome, and a prescription comprises a group of herbs specifically tailored to the syndrome. The rich correlations between syndromes and prescriptions have fueled the advancement of Chinese medicine for thousands of years.

Progress in the therapy of cardiovascular and cerebrovascular diseases has also received gifts from Chinese medicine. A key therapeutic concern for Chinese medicine is the principle of activating blood circulation to remove blood stasis, and there are several examples of this principle in action in Western medicine. Compounds derived from Chinese medicinal products—the molecules chuangxiongol and paeoniflorin—have been tested for their efficacy in preventing restenosis after percutaneous coronary intervention (PCI). A multicenter, randomized, double-blind, placebo-controlled trial (335 patients, 6 months) showed that restenosis rates were significantly reduced by the medicine as compared with the placebo (26.0% versus 47.2%)38. Evidence supporting the therapeutic value of related strategies from Chinese medicine aimed at activating blood circulation has been obtained in the treatment of ischemic diseases39 and in the management of myocardial ischemiareperfusion injury40–43. Also in relation to cardiovascular disease, a new discipline called biomechanopharmacology aims at combining the pharmacological effects of Chinese medicine with the biomechanical properties of flowing blood44. The joint application of exercise (to increase the shear stress of blood flow) with extracts from shenlian, another Chinese medicine, shows promise for the prevention of atherosclerosis45. And recent reports have begun to provide a glimpse into the molecular mechanisms that account for the effects of Chinese remedies. For example, a recent study identified a potential mechanism to account for the effect of salvianolic acid B, a compound from the root of Salvia miltiorrhiza, in combination with increased shear stress, on the functions of endothelial cells46. The examples cited here represent only a sliver of the gifts or potential gifts Chinese medicine has to offer. It is my dream that Chinese medicine will help us conquer life threatening diseases worldwide, and that people across the globe will enjoy its benefits for health promotion.

ACKNOWLEDGMENTS I wish to express my heartfelt thanks to all my colleagues at the Academy of Traditional Chinese Medicine for their devotion to our work and for their exceptional contributions to the discovery and application of artemisinin and its derivatives. I thank my colleagues in the Shangdong Provincial Institute of Chinese Medicine, the Yunnan Provincial Institute of Materia Medica, the Institute of Biophysics and the Shanghai Institute of Organic Chemistry at the Chinese Academy of Sciences, Guangzhou University of Chinese Medicine and the Academy of Military Medical Sciences for their significant contributions to Project 523. I also would pay my respects to the leadership at the national Project 523 office and their sound efforts in organizing the malaria project activities.

COMPETING FINANCIAL INTERESTS The author declares no competing financial interests.

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Wu, C.M. & Tu, Y.Y. Studies on the constituents of Artemisia gmelinii Web.exstechm [in Chinese]. Chin. Bull. Bot. 3, 34–37 (1985). 16. Wu, C.M. & Tu, Y.Y. Studies on the constituents of Artemisia argyi Levl et vant [in Chinese]. Zhongguo Zhong Yao Za Zhi. 10, 31–32 (1985). 17. Xiao, Y.Q. & Tu, Y.Y. Isolation and identification of the lipophilic constituents from Artemisia anomala S. Moore [in Chinese]. Acta Bot. Sin. 28, 307–310 (1986). 18. Tu, Y.Y. Study on authentic species of Chinese herbal drug winghao [in Chinese]. Bull. Chin. Mater. Med. 12, 2–5 (1987). 19. Yin, J.P. & Tu, Y.Y. Studies on the constituents of Artemisia eriopoda Bunge [in Chinese]. Chin. Tradit. Herbal Drugs 20, 149–150 (1989). 20. Gu, Y.C. & Tu, Y.Y. Studies on chemical constituents of Artemisia japonica Thunb [in Chinese]. Chin. Tradit. Herbal Drugs 24, 122–124 (1993). 21. Klayman, D.L. Qinghaosu (artemisinin): an antimalarial drug from China. Science 228, 1049–1055 (1985). 22. Sun, X.Z. et al. 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Immunopharmacol. 6, 1243–1250 (2006). 33. Zhang, D., Yang, L., Yang, L.X., Huang, M.M. & Tu, Y.Y. Determination of artemisinin, arteannuin B and artemisinic acid in Artemisia annua by HPLC-UVELSD [in Chinese]. Yao Xue Xue Bao 42, 978–981 (2007).
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A race against RESISTANCE

Several African nations could strike a major blow against malaria by sacrificing the efficacy of some older drugs. Can they make it work?

BY AMY MAXMEN

It is September in southeastern Mali, and Louka Coulibaly is standing in the shade of a squat, concrete building, giving instructions to a dozen men and women perched on a wobbly wooden bench. Coulibaly, a local medical supervisor, hands out nylon backpacks, each filled with bags of pills, plastic cups and a porcelain mortar and pestle that the women pause to admire. By noon, the men and women are packing up and heading back to their respective villages on foot, bicycle and motorcycle.

The following day, they and about 1,400 other health workers throughout the region will set up shop in public spaces: under the shade of mango trees, in one-room schools, at market stands and in district health centres. They will mix and mash the pills with the mortar and pestle, dissolve them in water in a cup, and hand the bitter dandelion-coloured liquid to about 164,000 children.

The effort is part of a broad campaign to prevent malaria by providing African children with drugs usually used to treat the disease. Nearly 1.2 million healthy children from parts of Mali, Togo, Chad, Niger, Nigeria and Senegal received these drugs during the rainy season — from around July to November — when malaria usually ravages the population. The countries’ governments are deploying this intervention — known as seasonal malaria chemoprevention, or SMC — with financial support from the United States, the United Nations and the medical aid organization Médecins sans Frontières (MSF), also called Doctors Without Borders. Next year, many plan to expand the campaigns, and other countries hope to launch their own, encouraged by
recommendations from the World Health Organization (WHO).

Preventive use of anti-malarial drugs is not new: tourists routinely swallow them when travelling. But public-health officials have long instructed people living in regions where the disease is endemic to refrain from taking drugs prophylactically, in part because of concerns that the parasite that causes malaria will develop resistance when many people take the medicine on a long-term basis.

That risk has not disappeared. In fact, scientists fully expect SMC to encourage widespread drug resistance. No one knows when, exactly, but it could happen within as few as five years. Until then, SMC has the power to prevent 8.8 million cases and 80,000 deaths each year if implemented in regions with high rates of seasonal malaria. That is considered a powerful enough benefit to justify losing the drugs. “Life is a risk,” says Coulibaly, a Malian hired by MSF to train local health workers. “And if you don’t take risks, you don’t win.”

The project is designed to forestall drug resistance as long as possible, and to work in concert with mosquito nets and other preventive methods. Supporters hope that the combination will significantly suppress malaria, so that even if resistance eventually spreads, the caseload should be smaller and manageable with other treatments. But SMC will not be as successful if funding and infrastructure falter — and so far, programmes have had a shaky start. Still, advocates say that the challenges can be overcome.

WHEN INTENTIONS BACKFIRE

Previous attempts at large-scale malaria chemo prevention offer lessons on what not to do. In the 1950s, David Clyde, a malaria researcher with the British Colonial Medical Service, administered the drug pyrimethamine to villagers in Tanzania. At the time, pyrimethamine had a strong track record of clearing the parasite. But with any drug, there is a slim chance that some strains of parasite will be resistant and will survive to infect others — a chance that increases when many people take the medicine in an area where the parasites are abundant and circulate year-round.

Clyde’s experiment drove this concept home: malaria rates dropped at first, but after five months, 37% of infections in the village no longer responded to the drug1. Eight years later, pyrimethamine resistance had spread: up to 40% of infections within 25 kilometres of the original intervention site were unresponsive.

The 1960s brought more lessons — this time, when scientists tried adding the drug chloroquine to table salt. Clinical trials had shown2 that the salt drastically lowered malaria rates. But when the tactic was scaled up and the salt was distributed to markets in Guyana and Brazil, people consumed only what met their tastes. Others opted for untreated salt when they could, because the chloroquine made their skin itch. As a result, many people carried sub-therapeutic levels of the drug — not enough to reduce the malaria burden, but enough to promote resistance. “The salt campaigns were a disaster,” says Christopher Plowe, a malariologist at the University of Maryland School of Medicine in Baltimore.

Governments and aid organizations mostly shelved chemoprevention programmes after that, but resistance continued to grow — albeit slowly — as people used drugs to treat malaria infections. Between 1960 and 2000, chloroquine resistance crept around the globe and the malaria death toll steadily rose. That trend started to reverse around 2005, after the widespread adoption of the drug artemisinin, derived from Chinese sweet wormwood (Artemisia annua). Today, artemisinin-based drugs are the gold standard for treating malaria.

SECOND CHANCE

Alassane Dicko, a malariologist at the University of Bamako in Mali, was a graduate student in Plowe’s laboratory in 2001, when he started to think seriously about reviving chemoprevention. As a child, Dicko had lost his older brother and his best friend to malaria. Later, as a medical student working in hospitals, he was distraught at the number of children he saw dying. “You really feel it,” he says. “If we want to do anything for this country in terms of health, we need to stop malaria first.”

Dicko suggested that older antimalarials might be repurposed for prevention in places where resistance to them is not yet widespread. By using drugs seasonally, only in uninfected children and in combination rather than alone, he hoped to avoid some of the mistakes of the past. With drug combinations, parasites need to acquire several mutations to survive. These mutations usually come at a cost to the parasite, so removing the selective pressure of the drugs during the dry season would give parasites still sensitive to the treatment a chance to outcompete resistant ones.

Dicko proposed using a mixture of sulphadoxine and pyrimethamine called SP, which was known to be relatively safe over the long term. In 2002, his team treated 130 children with SP for two months in a placebo-controlled trial in Mali3. The treatment reduced malaria by 68%.

Other West African scientists followed the study. Among them was Badara Cissé, a Senegalese researcher then pursuing his doctorate with malariologist Brian Greenwood at the London School of Hygiene and Tropical Medicine. Greenwood had been considering chemoprevention since the 1980s, and he and Cissé immediately grasped the potential in Dicko’s approach. In 2004, they began a trial in Senegal to test three monthly doses of SP plus artesunate, an artemisinin derivative. Compared with the placebo group, nearly nine out of ten malaria cases were averted4.

With a US$4.5-million grant from the Bill & Melinda Gates Foundation in 2008, Cissé and his colleagues launched an as-yet-unpublished, 3-year clinical trial to study SP with another drug, amodiaquine (to preserve the efficacy of artemisinin). They treated nearly 200,000 children under 10 years old and found that they had 83% fewer cases of malaria than controls, says Cissé. Smaller trials in other African nations reported similar findings. These are impressive numbers, especially given how recalcitrant malaria has been to preventive measures. No vaccine has ever proved fully effective against the disease, for example. And the one that is closest to approval — RTS,S — has shown disappointing results in ongoing clinical trials, with less than a 50% reduction in cases (see Nature 502, 271–272; 2013).

RESISTING THE CRITICS

SMC raised some concerns that slowed its adoption. Some health officials suggested that natural, partial immunity to the parasite — built up as a child survives multiple bouts of malaria — would be compromised. Others fretted about the potential side effects of taking the drugs regularly. But the loudest complaints were about losing the drugs to resistance.

In a cramped office in a makeshift building at the University of Dakar, Cissé explains how he was frustrated by the deliberations among public-health officials as malaria waged war on Senegal’s children. He slumps in a chair that seems much too small for him and asks, “Isn’t it selfish to sit in our offices with air conditioning, saying that we should save these drugs?” He recalls a single night, 20 years ago, when he watched five children die of malaria. There was nothing he could do to save them. “If this happened to you, you would not be debating about the fear of losing a drug,” he says.

In 2012, SMC finally won over most officials. The Cochrane Collaboration — an international group based in Melbourne, Australia, that specializes in evidence assessment — analysed results from trials in Senegal, Mali, Burkina Faso, Ghana and Gambia, and concluded5 that SMC could prevent more than three-quarters of malaria cases in places where the disease struck seasonally. In the trials, the signs of side effects, resistance and reduced immunity were all minimal. According to another report6, nearly 21 million children in these regions stood to gain from SMC each year. And prevention is cheaper than treatment. Each month, chemoprevention costs $1.50 per child, which pales in comparison to the costs of travel and medical care for a child who falls ill. In November 2012, the WHO published SMC-implementation guidelines that enabled countries to apply for funds from international organizations7.

SLOW START

Implementation has been a challenge, however. Mamadou Lamine Diouf, the drug-procurement manager for Senegal’s National Malaria Control Program, says that the rollout there was supposed to reach nearly 600,000 children each month, starting in July and August. But he and the US agency footing the bill for the medicine had underestimated how much time it would take to get these older drugs manufactured anew and assessed by various organizations. By early November, health workers had managed to reach only 53,000 children. “We are learning by doing,” says Diouf. “Now we know that if we don’t master this long supply chain, nothing will be possible.”

Drug delays set back chemo prevention pilots in northern Nigeria by a month. Togo’s campaign did not start until September. Burkina Faso’s project failed to launch when funds came up short. And the size of Mali’s intended intervention dropped after a coup d’état and an invasion by al-Qaeda affiliates last year sent the nation into disarray.

Still, with the lessons learned, supporters say that they will be better prepared next year (see ‘A million ounces of prevention’). In March, some countries plan to apply for funding from the Global Fund to Fight AIDS, Tuberculosis and Malaria. Scott Filler, a disease coordinator at the Global Fund, which is based in Geneva, Switzerland, says, “There are not many things that can prevent malaria in 75% of children, so we will fully support it when countries come to us.”

A MILLION OUNCES OF PREVENTION

By November 2013, seasonal malaria chemoprevention (SMC) reached almost 1.2 million children in areas that receive at least 60% of their annual rainfall in the rainy season. If SMC were scaled up to cover all areas where it might be effective, it could reach 25 million children and prevent an estimated 80,000 deaths each year.

Areas where more than 60% of annual rainfall falls in the rainy season

Mali  344,00

Niger 230,00

Chad 274,000

Nigeria 190,000

Senegal 53,000

Togo 88,000

Plan to implement SMC in 2014
Implemented SMC by November 2013, with number of children treated

As the programmes continue, researchers will keep watch to see if resistance to the drugs mounts. Randomly selected people who come to hospitals to be treated for malaria in Mali, Chad and Niger will have a spot of their blood smeared on filter paper, placed in a ziplock bag and shipped to a laboratory in Bamako, where Dicko and his colleagues will look for mutations associated with resistance to SP and amodiaquine. The University of Dakar will conduct similar tests.

For the campaigns to have a long-lasting effect, chemoprevention must work faster than the parasites acquire resistance. Supporters hope that the treatments will destroy most malaria parasites over the next several years, driving down infection rates and keeping them down even when resistance begins to spread.

Ramanan Laxminarayan, director of the Center for Disease Dynamics, Economics and Policy, a health-policy think tank in Washington DC, is sceptical. He predicts that imperfect implementation will prevent campaigns from having the benefits seen in clinical trials, and that the disease will bounce back in the end. Importantly, says Paul Milligan, a malaria researcher at the London School of Hygiene and Tropical Medicine, funding agencies must support follow-up evaluations to catch unintended effects such as increased vulnerability to malaria in children who outgrow the interventions. Plowe adds: “If we just roll this out without surveillance, we risk repeating all of the mistakes made in the past.”

Yet surveillance and drug resistance mean little to the mothers who congregate in a small village in the Koutiala region of Mali just after sunrise in September. Awa Damale, 25 years old and clad in an embroidered aqua dress and matching headscarf, arrives by donkey cart with her four children and two from another family. Five of the children swallow their medicine, but one of Damale’s sons has felt ill this week. He tests positive for malaria and gets a referral to the nearest clinic. SMC is for prevention only.

The boy’s illness may be a sign that the drugs he took last month are not 100% effective — or that he did not swallow all of the medicine — but his condition does not dampen Damale’s enthusiasm. It is the first time this year that one of her children has had malaria. Before the intervention, she constantly juggled working on the farm with caring for sick children. She does not want to hear about the possibility of the programme drying up or the drugs losing potency years down the road. Most of her children are healthy now, and that is what matters most. ■

SEE EDITORIAL P.165

Amy Maxmen is a freelance science journalist in New York City. Travel for this story was paid for by a grant from the Pulitzer Center on Crisis Reporting in Washington DC.
1. Plowe, C. V. Trans. R. Soc. Trop. Med. Hyg. 103, S11– S14 (2009). 2. Giglioli, G., Rutten, F. J. & Ramjattan, S. Bull. World Health Org. 36, 283–301 (1967). 3. Dicko, A. et al. Malar. J. 7, 123 (2008). 4. Cissé, B. et al. Lancet 367, 659–667 (2006). 5. Meremikwu, M. M., Donegan, S., Sinclair, D., Esu, E. & Oringanje, C. Cochrane Database Systematic Rev. 2012 http://dx.doi.org/10.1002/14651858. CD003756.pub4 (2012). 6. Cairns, M. et al. Nature Commun. 3, 881 (2012). 7. World Health Organization Seasonal malaria chemoprevention with sulfadoxine-pyrimethamine plus amodiaquine in children: A field guide (2012).

 

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Dynamic Protein Profiling

Larry H. Bernstein, MD, FCAP, Curator

LPBI

Dynamic profiling of the protein life cycle in response to pathogens

The protein lifecycle is regulated by mRNA expression, translation,
and degradation. Image courtesy of Broad Communications.

Cellular protein levels are dictated by the net balance of mRNA expression (the type of RNA that provides genetic information for proteins), protein synthesis, and protein degradation. While changes in protein levels are commonly inferred from measuring changes in mRNA levels (due to the difficulties involved in measuring protein levels), it’s not often clear whether determining RNA levels is actually a good proxy for measuring protein levels.

In their recent article in the journal Science, Broad Institute researchers working in core member Aviv Regev’s and institute member Nir Hacohen’s laboratories, along with the Broad’s Proteomics Platform led by Steve Carr describe a quantitative genomic model that lets them explain the abundance of proteins in cells based on mRNA expression, translation, and degradation. They performed their study in mouse dendritic cells stimulated with LPS, a component of bacteria.

While previous studies had looked at global levels of regulation in rapidly-dividing, unstimulated cells, this work focuses on understanding how much of the change in protein levels is due to a change in mRNA expression, translation, and degradation in specific genes and classes of genes in response to a stimulus – in this case, LPS. For example, would the changes in levels of one class of proteins be mostly driven by changes in the levels of the mRNAs that encode them? On the other hand, would changes in the levels of other groups of proteins occur without changes in mRNA, but rather due to faster translation or slower degradation of the protein? These were the type of questions the scientists were interested in.

Explains co-first author Marko Jovanovic, “Can we, in a dynamic system, integrate RNA and protein life cycle data? People rarely do this, and never systematically. Can we really make a global model of gene expression where we know, in the end, how much each type of regulatory layer is contributing to each gene? You can get a global answer too, but straight percentages of global contribution of RNA levels and the protein life cycle to final protein levels was not my goal. My question was really, do we see that certain classes of genes are controlled one way and certain other classes another way and therefore gain new regulatory insight?”

Since changes in protein levels are not as dramatic and fast as changes in RNA levels, one of the greatest challenges they faced in their study was distinguishing actual signal from noise. Co-first author Michael Rooney explains how they tackled this problem: “While the quantitative accuracy of mass spectrometry has grown tremendously, we realized that statistical strategies for handling stochastic and systematic errors in the data would still be critical to getting correct results. As a first step, we developed a generative statistical model for the data. This allowed us to leverage the entire time course in a manner that was robust to missing values and stochastic variation. Second, we saw that the contribution of translation might be over-estimated if we allowed translation rates and protein levels to be calculated from the same experimental system, because in such a case they would both be confounded by the same systematic errors, making them appear more similar than they actually are. This led us to the novel strategy of creating biological replicates prepared by distinct peptide library protocols.”

In this way, the team was able to robustly build a dynamic model in which the mRNA synthesis rate, the translation rate and the protein degradation rate change over time. Based on this model, it was possible to predict how much of each of the three types of regulation are contributing to the change in the level of each protein and from that measure both globally, per gene class, and per gene, the relative contributions of each type of regulation.

Analyzing the LPS-stimulated dendritic cells, the researchers found that overall mRNA expression dominates the regulation strategies, accounting for up to 90% of the fold changes in protein level variation. This is a significant increase from their pre-stimulation measurements showing regulation of mRNA expression contributing 60-70%, translation 15-25%, and degradation also 10-20%.

What appeared to be regulated more substantially by the protein lifecycle (translation, degradation) were highly expressed genes. And, looking at changes in the number of protein molecules rather than just the relative fold changes in pre- versus post-stimulated cells, what emerges is that post-stimulation, regulation at the level of the protein lifecycle begins to dominate.

The findings lead to a model for the LPS-stimulated system in which protein expression associated with functions critical for a dendritic cell-specific functions is taken care of by regulation at the level of RNA expression. However, the readjustment of the pre-existing proteome when the cells enter a new state (for example, in response to pathogen stimulation) is controlled via regulation of the protein life cycle (translation, degradation) rather than RNA expression.

“We termed this the ‘cupcake model’,” says Jovanovic. “You have to forgive me, this is my European view on how I see people buy cupcakes. They go into the store and choose the cupcake based on the icing, so the icing is kind of the identity of the cupcake. So from one cupcake to another you are basically changing the icing. In our model, the identity of cell states is adjusted by mRNA regulation so mRNA regulation is basically contributing to the icing. However, there’s also the cake part. The cake part is often specifically adjusted to the icing on top of the cupcake. The cake part, analogous to “housekeeping genes’, also needs to change and this is mainly through the protein life cycle. I’m very biased because I don’t like the icing on cupcakes, just the cake part, and so in the same vein, I wanted to know more about how the protein lifecycle contributes to gene expression. I think people have focused too much on the icing. “

So, mRNA changes drive new cell state identity. Protein lifecycle regulation drives readjustment of preexisting “housekeeping genes” such as those encoding ribosomes and factors involved in metabolism to adjust the cell to its new state.

This approach is extensible to test the regulation of gene expression in other perturbed systems as well, and allows researchers for the first time to assess the relative contributions of each of the three levels of protein level regulation – mRNA expression, translation, and degradation – in any perturbed system.

Paper cited: Jovanovic, M et al. Dynamic profiling of the protein life cycle in response to pathogens.Science. Feb. 12, 2015. http://dx.doi.org:/10.1126/science.1259038

More Dynamic Protein Profiling

To Capture Fleeting Expressions, Go High-Throughput

  • One of the unexpected findings of the Human Genome Project was that human chromosomes contain only 20,000–25,000 protein-encoding genes, fewer than had been anticipated, …

Transitioning from Traditional Assay Formats to HTRF Technology 
Sensitivity of Fluorescence Coupled to Low Background of Time Resolution

Researchers are working on novel adaptations of HTRF-based assays, as well as their combination with other types of assays, to characterize complex disease pathways that may present multiple drug targets for disease therapy. [iStock/ponsulak]

  • At the 6th Cisbio HTRF symposium, “Charting the Course of Drug Discovery” held recently in Brewster, MA, investigators described how homogeneous time-resolved fluorescence (HTRF®) continues to expand and improve upon the repertoire of available bioassay formats for basic research and drug discovery. Participants described applications of these assays as integral components in studies ranging from identification of allosteric modulators as potential drugs to determination of critical components in protein-modifying biochemical pathways as new drug targets.

    A form of time-resolved fluorescence energy transfer (TR-FRET) technology, HTRF brings together the sensitivity of fluorescence with the homogeneous nature of FRET and the low background of time resolution. As in other FRET systems, HTRF uses two fluorophores—a donor and an acceptor that transfer energy when in close proximity to each other. Excitation of the donor molecule by an energy source such as a laser causes the emission of light waves at donor-specific wave lengths.

    If the donor and acceptor are not within proximity to each other, the donor is excited but no energy transfer occurs and no acceptor emission occurs. Dual-wavelength detection reduces buffer and media interference, and the final signal is proportional to the extent of product formation.

    The HTRF assay can be miniaturized into 384- and 1536-well plate formats, which proponents say, can save reagent costs and minimize quantities of limited target and compound material used in the assay. This assay technology has been applied to many antibody-based assays, including GPCR signaling (cAMP and IP-One), kinase, cytokine, biomarker, and bioprocess (antibody and protein production), as well as assays for protein-protein, protein-peptide, and protein-DNA/RNA interactions.

    Unlike traditional TR-FRET systems that employ fluorophores such as fluorescein and rhodamine that are characterized by immediate and transient emissions, HTRF-specific donors such as europium and terbium cryptate emit relatively long-lived fluorescence upon excitation. Conversely, acceptor molecules rapidly emit fluorescence.

    Thus, the nonspecific short-lived background fluorescence that occurs in FRET assays can be reduced by introducing a time delay ranging from 50-150 microseconds between the initial donor excitation and measurement. In HTRF, therefore, if the donor and acceptor molecules are not within proximity, only donor emissions are detected following a time delay.

    Participants at the symposium focused on novel adaptations of HTRF-based assays, as well as their combination with other types of assays, to characterize convoluted disease pathways that may present multiple drug targets for disease therapy, especially neurodegenerative disorders. In particular, several presenters noted its use in addressing what the conference keynote speaker, Terrance Kenakin, Ph.D., of the University of North Carolina, characterized as “The Perfect Storm” of pharmacology, receptor allostery, and biased signaling. Strictly defined, allosteric molecules regulate proteins by binding to the molecule at a site other than the protein’s active site.

    With regard to the seven transmembrane receptors (7TMRs) also known as G protein-coupled receptors, Dr. Kenakin noted that GPCRs comprise the largest class of receptors in the human genome and are common targets for therapeutics. Originally identified as mediators of 7TMR desensitization, β-arrestins (arrestin 2 and arrestin 3), for example, are now recognized as true adaptor proteins that transduce signals to multiple effector pathways. The introduction of molecular dynamics coupled with new assays, including HTRF, he said, opened new vistas for 7TMRs as therapeutic entities. Specifically, probe-dependent allosteric vectors oriented toward the cell cytosol provided fertile ground for new 7TMR drugs in the form of ligand-producing biased signaling.

    Discovering and Characterizing Allosteric Modulators  

    Positive and negative allosteric modulators (PAMs and NAMs) of GPCRs have emerged as a novel and highly desirable class of compounds, particularly in potential treatment for mental disorders, and for metabolic, neurodegenerative, and neuromuscular diseases. Advocates say they offer some distinct advantages over conventional competitive compounds, including the potential for fine-tuning of GPCR signaling and the promise to address formerly intractable targets.

    Introduced to the market in 2010 for the treatment of secondary hyperparathyroidism in adult patients with chronic kidney disease on dialysis, Cinacalcet, a PAM, activates the calcium-sensing receptor that functions as the principal regulator of parathyroid hormone secretion. Cinacalcet is the first clinically administered allosteric modulator acting on a GPCR, and provided a proof-of-concept for future development of allosteric modulators on other GPCR drug targets..

    Hayley Jones and Jeff Jerman, both of Medical Research Council Technology (MRCT) in the U.K., talked about the characterization of novel PAMs for the dopamine 1 receptor. Although preclinical and clinical data have validated this receptor as a target for drugs to improve cognitive impairment in schizophrenia, Jones noted that, to date, attempts to clinically develop agonists have failed.

    She and her colleagues have approached this problem by targeting D1R via PAM saying that in contrast to “direct” orthosteric D1R agonists, PAMS potentially offer advantages, including physiological spatiotemporal control of dopamine function by enhancing the effect of its endogenous ligand and avoiding over stimulation by self-limiting effects.

    The investigators said they had configured a cell-based HTRF assay to screen a subset of an MRCT compound library using CHO cells that transiently express the human receptor. Inclusion of a submaximal concentration of dopamine in the assays facilitated simultaneous detection of both PAMs and agonists, allowing them to identify novel D1R activators.

    Michelle Arkin, Ph.D., of the University of California, San Francisco, focuses her research on developing small molecule modulators of allosterically regulated enzymes and protein complexes as potential drug leads. Neurodegenerative diseases such as Alzheimer’s and other “taopathies” are characterized by formation of intracellular tangles comprised of aggregated tau proteins. Previous studies have shown that the protein actyltransferase p300 acetylates tau at several sites, competing with ubiquitination and thereby inhibiting tau degradation.

    Dr. Arkin and colleagues developed a high-throughput screen using HTRF to identify p300 inhibitors, designing a suite of counter screens and secondary assays to validate hits. Based on previous findings that the protease caspase-6 clips tau at specific sites and that truncated tau forms are associated with disease progression, the investigators developed selective caspase-6 inhibitors.

    HTRF assays demonstrated, she said, that small molecule compounds inhibit caspase-6 mediated cleavage of tau in cell lysates, concluding that the combination of HTRF enzymatic and biophysical assay formats allow characterization of inhibitors of proteins that may be involved in tauopathy progression.

  • Lack of Suitable Assays

    Martha Kimos, biochemist at the Lieber Institute, noted that the discovery of novel catehechol-o methyltransferase (COMT) inhibitors for use in the treatment of Parkinson ’s disease has been limited due to lack of suitable assays for high-throughput screening. COMT inhibitors like entacapone and tolcapone prolong the action of levodopa by preventing its demethylation by COMT.

    Kimos and her colleagues developed an HTRF assay involving an enzymatic step that uses membrane-bound human COMT as an enzyme substrate and an assay step that measures s-adenosyl-L-homcysteine (SAH) as an enzymatic reaction product. To directly measure SAH release, an anti- SAH antibody labeled with terbium cryptate and a SAH-d2 tracer were used. The SAH released by the enzymatic reaction competes with the SAH-d2 labeled leading to a decrease of the HTRF signal. The assay, the researchers said, showed good potency for tolcapone, with a high degree of translation between data in fluorescence ratio and data in terms of SAH produced, and suitable for kinetic studies, including Km determination.

    At Pfizer USA, Richard Frisbee, a scientist in the hit discovery and lead profiling (HDLP) department, and colleagues have focused on the development of HTS whole blood assays using HTRF, particularly to monitor anti-inflammatory drug potency. They noted that traditional whole-blood formats such as ELISAs for detecting cytokines require multiple assay plate manipulations, including wash steps and incubation steps, have limited throughput, and are relatively time consuming.

    They reported that they had developed a sandwich immunoassay protocol that measures cytokine production in human whole blood in a 384-well format, describing key elements of the assay, including nanoliter spotting of test compounds, miniaturized blood/reagent transfer, and optimized assay incubations. Development of a relatively convenient assay to monitor compound potency in whole blood can facilitate they said, the prediction of compound doses required for therapeutic efficacy.

    Inhibiting the enzyme γ-secretase, which converts amyloid precursor protein to β-amyloid , thus preventing its accumulation in the brain, has been a goal of drug developers.

    Most recently, Bristol-Myers Squibb elected to discontinue development of its inhibitor candidate avagacestat into Phase III trials after disappointing Phase II results. BMS remains in the hunt for drugs to treat Alzheimer’s disease. Despite clinical failures of its and other companies’ other gamma secretase inhibitors, researchers continue to search for next-generation compounds they believe may succeed.

    At BMS, Dave Harden, Ph.D., principal scientist and team leader, biochemical screening in the leads discovery and optimization group, has developed novel assays to identify molecules that inhibit secretase by measuring multiple amyloid beta species in cell supernatant. He and his team have capitalized on terbium cryptate’s properties as a donor fluorophore in HTRF, that has different photophysical properties compared to the donor fluor europium. These properties afford the opportunity to measure more than one interaction within a well due to the multiple emission spectra observed upon excitation. It can therefore serve as a donor fluorophore to green-emitting fluors because it has multiple emission peaks including one at 490 nm as well as the typically used 665 nm (red) emission.

    Dr. Harden and colleagues, in order to “enhance” their screening practices by expanding well information content, enabled two color multiplexed HTRF in multiple settings in large (>1 MM well) screening campaigns. This approach, they reported, successfully identified mechanistically distinct gamma secretase inhibitors by measuring multiple amyloid beta peptide species in cell supernatants. This, and several other examples, the presenters said, demonstrated the power of multiplexed HTRF in maximizing screening outcomes.

    Across the board, meeting presenters demonstrated the flexibility of HTRF assays and their adaptability to multiple research settings. The scientists pointed out that the assays yielded values consistent with other assay results using less versatile and convenient assays formats.

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Outstanding Achievement in Pathology

Curator: Larry H Bernstein, MD, FCAP

 

Olympus America Honors Outstanding Pathologists During First Annual “Unsung Heroes” Awards

Melville, Ny—Tracey Corey Handy, M.D., Chief Medical Examiner of Kentucky, and Matthew Zarka, M.D., affiliated with the University of Vermont and the Fletcher Allen Health Center, were recognized as the 1999 winners of the “Unsung Heroes” Awards. The awards, sponsored by Olympus America Inc., a world leading manufacturer of microscopes, in cooperation with the College of American Pathologists (CAP), were presented at a ceremony during the Fall CAP Conference in New Orleans.

The awards are the first in the on-going “Unsung Heroes” program sponsored by Olympus for the purpose of increasing public awareness of the vital and often invisible role pathologists have in saving lives. In addition to their expertise with a microscope, pathologists are the doctors who ensure that clinical laboratory testing is reliable and that diseases are accurately diagnosed. They are on the front lines whenever the public is threatened with disease. Their role in forensic science is crucial in helping prevent people from falling prey to abuse or avoidable illness. As Dan Biondi, Olympus Senior Vice President, points out, “Olympus is committed to supporting the work of the world’s pathologists and to advocating an educated patient population.”

Dr. Tracey Corey Handy is recognized as an “Unsung Hero” for her role in upgrading the well-being of children as Kentucky’s Chief Medical Examiner. Along with several colleagues, Dr. Handy founded the state’s “Living Forensics” team in 1991. Since its inception, the team has consulted on more than 700 cases of suspected child abuse. This effort has led to an increased conviction rate of abuse perpetrators and helps to reduce further cases of child abuse. In addition, Dr. Handy has initiated a program of routine screening for metabolic defects apparent in victims of Sudden Infant Death Syndrome (SIDS), which has resulted in the correct diagnosis of conditions that would have otherwise been attributed to SIDS. Dr. Handy has also chaired the state’s first child mortality review group that has resulted in the initiation of prevention programs, particularly in the event of accidental child death. A frequent speaker and contributor of her expertise to organizations throughout the country, she also teaches forensic pathology and has been published in more than a dozen peer-reviewed journals and books.

Dr. Matthew Zarka is recognized as an “Unsung Hero” for his efforts in aiding the extremely poor Mexican-Indian population in the remote mountain regions of Oaxaca, Mexico. Over the last two years Dr. Zarka has volunteered his time and services to bring much needed medical care to these impoverished communities. He and his OB/GYN team have been setting up the very first clinics throughout the area, enjoining the coffee companies of Mexico to spread word of the clinics to the local population and to help transport patients to the clinics. After each female patient underwent a gynecological examination, Dr. Zarka stained and read her Pap test. When needed, more extensive evaluations, biopsies, treatment and counsel were provided. Overwhelmingly successful, Dr. Zarka’s outreaching medical mission has grown to include additional professional staff. By volunteering his time and expertise, Dr. Zarka provides the only real access most people of the region have to modern medical care. His contribution has undoubtedly saved lives that might otherwise have been lost.

Stanford University

Benjamin Pinsky, MD, PhD, Assistant Professor of Pathology and Medicine (Infectious Diseases) is the recipient of the 2014 Siemens Healhcare Diagnostics Young Investigator Award.  This award “honors outstanding laboratory research in clinical microbiology or antimicrobial agents and is intended to further the career development of a young clinical scientist and promote awareness of clinical microbiology as a career.”

Stephen J. Galli, MD, Chair of Pathology, Professor of Pathology and Microbiology and Immunology, and the Mary Hewitt Loveless, MD Professor, is the recipient of the 2014 ASIP (American Society of Investigative Pathology) Rouse Whipple Award.  This award is presented to a senior scientist with a distinguished career in research who has advanced the understanding of disease and has continued productivity at the time of this award.

Dr. Raffick Bowen, Clinical Associate Professor and Associate Medical Director of SHC’s Clinical Chemistry and Immunology Laboratory is the recipient of the American Association of Clinical Chemistry’s Outstanding Speaker Award for 2013. This award recognizes his achievement in earning a speaker evaluation rating of 4.5 or higher during a 2013 continuing education activity accredited by AACC. The title of Dr. Bowen’s presentation is “Implementation of Autoverification in a Clinical Chemistry Laboratory: Theory to Practice”

Richard Kempson, MD,

Emeritus Professor of Pathology, is the recipient of the 2014 United States and Canadian Academy of Pathology (USCAP) President’s Award. The USCAP President’s Award is given annually to recognize an individual for outstanding service to the field of pathology.

Dr. Kempson is richly deserving of this award. Dr. Kempson has not only contributed substantially to the surgical pathology literature, particularly in gynecologic and soft tissue pathology but also, with Dr. Ronald Dorfman, he trained a substantial percentage of this and the next generation’s academic and community leaders in surgical pathology.

Dr. Kempson’s affiliation with Stanford University began in 1968 when he and Dr. Ronald Dorfman were recruited to Stanford to develop a program in surgical pathology. In short order, they established an internationally recognized residency and clinical fellowship program which went on to train more than 275 pathologists in the art and science of diagnostic surgical pathology. Dr. Kempson developed a distinctive teaching style that emphasized precise diagnostic criteria, approaching diagnosis with a broad morphologic differential diagnosis, and most importantly, always highlighting the relevance to patient management of the morphologic distinctions being made.

Prior to his recruitment to Stanford, Dr. Kempson was an Assistant Professor of Pathology and Surgical Pathology at Washington University. Dr. Kempson served as an Associate Professor of Pathology at Stanford from 1968 to 1974 and a Professor of Pathology from 1974 to 2001. In addition to his academic duties, he served as Co-Director of Surgical Pathology from 1968 until 2001. He also has served as President of the Association of Directors of Surgical Pathology (1993-1995), the United States and Canadian Academy of Pathology (1996) and the Arthur Purdy Stout Society (1996) and the California Society of Pathologists. The Richard Kempson, MD, Professorship in Surgical Pathology was established by the Department of Pathology in 2002 to honor him and his remarkable contributions to surgical pathology.

University of California, San Diego

A new era in diagnostics has emerged within the concept of Personalized Medicine. Imagine selecting cancer chemotherapy drugs based on knowledge of the precise mutations in a cancer. Can we predict who may have an adverse response to a medication based on that individual’s genetic blueprint? At UCSD, we are dedicated to making these resources available to our patients in the very near future. This is why we recently established the Pathology Center for Personalized Medicine. The goal of the Center is to conduct leading research necessary to form the foundation for advanced personalized medicine diagnostic testing and then to make this testing available in the CALM. For more information on the Center for Personalized Medicine, click here.

The research enterprise in Pathology at UCSD has grown dramatically in the past five years, and we are now amongst the top 15 programs in the country. Basic and translational research laboratories in the UCSD Pathology Department tackle important problems concerning cancer development and progression, angiogenesis, stem cell biology, neurodegenerative diseases, peripheral neuropathy, inflammation, infectious diseases, and wound healing. Our laboratories provide excellent environments for learning cell biology, molecular genetics, biochemistry, and animal physiology. Our faculty includes many active participants in the Biomedical Sciences (BMS) Graduate Program. For more information on this program, click here. We also have excellent opportunities for postdoctoral researchers. Please click here to visit our web page on summarizing the Pathology Department research enterprise. Then visit individual web pages for each of our faculty member to view specific research interests.

The Department of Pathology is home to both an outstanding Comparative Pathology and Medicine Program (for more information, click here) and the UCSD Research Ethics Program. We provide major educational support to the School of Medicine and the Skaggs School of Pharmacy and Pharmaceutical Sciences. For further information on these training opportunities, click here.

The La Jolla/San Diego community is a fertile environment for research and the pharmaceutical industry. The Sanford Burnham Medical Research Institute, the Scripps Research Institute, the Sidney Kimmel Cancer Center, the Salk Institute for Biological Studies, and the La Jolla Institute for Allergy and Immunology house exciting scientific programs and provide for numerous scientific collaborations. We also boast a plethora of biotechnology companies, located nearby on the La Jolla mesa.

The overall theme and focus of the Department of Pathology is to elucidate the molecular basis and pathology of human disease.  The faculty is comprised of basic, translational and physician scientists that utilize the latest techniques in genomics, proteomics, cell biology, molecular biology and physiology to develop new diagnostic and therapeutic approaches for a wide range of diseases, including cancer, neurological disease, microbial infection, and inflammatory disease.

Steven L. Gonias, M.D., Ph.D.

Our laboratory is interested in identifying and characterizing novel pathways by which proteases and their cell-surface receptors regulate cell physiology. We are particularly interested in the function of proteases in cancer but also have active projects related to peripheral nerve injury, Alzheimer’s disease and cardiovascular biology. One focus involves urokinase-type plasminogen activator (uPA), a serine protease and plasminogen activator that binds with high affinity to a GPI-anchored receptor called uPAR. This event activates multiple cell-signaling pathways that affect cell migration, survival, and phenotype. We are actively working to elucidate mechanisms by which uPAR-initiated cell-signaling promotes cancer metastasis. We are particularly interested in breast cancer, but also work on prostate cancer and cancers of the central nervous system.

The complex of uPA with its inhibitor, PAI-1, is a ligand for a receptor called LRP-1. LRP-1 also is the receptor for other ligands, including extracellular matrix proteins, growth factors and foreign toxins. Our laboratory elucidated a pathway in which LRP-1 regulates cell-signaling indirectly, by regulating the cell-surface level of uPAR. However, recent studies suggest that LRP-1 also directly regulates cell-signaling by binding adaptor proteins, such as Shc and JIP. By this mechanism, LRP-1 regulates cell survival and gene transcription. Our current re­search is aimed at determining the role of LRP-1 in cancer and peripheral nerve injury, using in vitro and in vivomodel systems. Using proteomics approaches, we also are actively investigating the ability of LRP-1 to model the composition of the plasma membrane.

Our third area of focus concerns the plasma protease inhibitor, alpha2M. Our laboratory has demonstrated that this protein functions as a conformation-dependent carrier of growth factors. Alpha2M may also function in cell-signaling by binding to LRP-1. By site-directed mutagenesis, we have iso­lated and individually modified various functional sites in this multifunc­tional protein.

David Bailey, MD, PhD

David N. Bailey received his Bachelor of Science degree in Chemistry “with high distinction” from Indiana University and his Doctor of Medicine degree from Yale University.  He completed a National Institutes of Health postdoctoral fellowship in Laboratory Medicine and a residency in Clinical Pathology, both at Yale, serving as Chief Resident in his final year.  He is certified in Clinical Pathology and Chemical Pathology by the American Board of Pathology.

Dr. Bailey joined the University of California (UC) San Diego faculty in 1977 and served as Director of the Toxicology Laboratory of UC San Diego Medical Center (1977-2007), Head of the Division of Laboratory Medicine (1983-1989, 1994-1998), Acting Chair (1986-1988) and permanent Chair of the Department of Pathology (1988-2001),  Director of the Pathology Residency Program (1986-1999), Director of Clinical Laboratories of UCSD Medical Center (1982-1999), Interim Vice Chancellor for Health Sciences and Dean of the UC San Diego School of Medicine (1999-2000 and 2006-2007), Deputy Vice Chancellor for Health Sciences (2001-2007), and Dean for Faculty & Student Matters in UC San Diego School of Medicine (2003-2007).  From 2007 to 2009, he was Vice Chancellor for Health Affairs, Dean of the School of Medicine, and Professor of Pathology and Laboratory Medicine at the University of California, Irvine.

Dr. Bailey was recognized by the Institute of Scientific Information as one of the world’s ten most cited authors in forensic sciences (1981-93). He received the Gerald T. Evans Award from the Academy of Clinical Laboratory Physicians and Scientists in 1993 for his leadership and service to the Academy.  Dr. Bailey has served as President of the California Association of Toxicologists (1981-1982), President of the Academy of Clinical Laboratory Physicians and Scientists (1988-89), and Secretary-Treasurer of the Association of Pathology Chairs (1996-99).  He has also served on the Chemical Pathology Test Development and Advisory Committee of the American Board of Pathology; the Editorial Boards of Clinical Chemistry, the Journal of Analytical Toxicology, and the American Journal of Clinical Pathology; the Doris A. Howell Foundation for Women’s Health Research Board of Directors; the Board of Directors of the George G. Glenner Alzheimer’s Family Centers, Inc.; the Board of Directors of the Children’s Hospital of Orange County; the Board of Directors of Children’s Healthcare of California; the Board of Directors of the Rady Children’s Hospital of San Diego; the Board of Directors of the Veterans Medical Research Foundation (San Diego); and the Executive Committee and Governing Board of the California Institute of Telecommunications and Information Technology, among others.

David A. Herold, M.D., Ph.D.

My laboratory research interests are in the area of mass spectrometry application to clinical diagnostics. This includes prostaglandins, trace metal and steroids. Additionally, we has been involved in the development and validation of “classical” clinical chemistry diagnostic tests. The application of the mass spectrometry to determine the validity of endocrine tests, in particular testosterone, has been of particular interest. We have been using GC-MS, LC-MS, and MS-MS techniques for these investigations. At the present time, we are involved with the use of Accelerator Mass Spectrometry for the determination of calcium flux in serum and urine using 41Ca as a marker. The purpose of these studies is to better understand bone remodeling in normal and diseased patients. We have also investigated the use of microfluidics for the application to clinical diagnostics to measure selected proteins in a rapid and accurate manner.

 

David Cheresh, Ph.D.

Tumor growth, invasion, stem cells and drug resistance. Molecular regulation of tumor growth and angiogenesis. Drug development targeting molecular pathways involved in tumor growth metastasis and angiogenesis.

The Cheresh laboratory focuses on the discovery of molecular pathways involved in the progression of cancer. Cheresh’s earlier work identified integrin αυβ3 as a biomarker of tumor angiogenesis and tumor progression, and was involved in the discovery of a drug called cilentigide which targets integrins αυβ3 and αυβ5.

The Cheresh laboratory has identified a series of critical microRNAs that regulate the growth of blood vessels.  These microRNAs control the angiogenic switch that occurs during the earliest stages of tumor growth and neovascularization in the retina.  As such one of these microRNAs may have therapeutic application as it is capable of maintaining blood vessels in the quiescent state.

Cheresh and colleagues have identified integrin αυβ3 as a biomarker of tumor stem cells during intrinsic or acquired resistance of a wide range of tumors including: cancer of the lung, pancreas, breast, and colon.   Cheresh and his lab discovered that αυβ3 expression is both necessary and sufficient to account for tumor stemness and drug resistance based on its ability to drive a molecular pathway regulating these processes.  This has led to the development of new therapeutic strategies to resensitize patients to drugs such as erlotinib and lapatinib that target EGFR.

The Cheresh laboratory has identified RAF kinase as an important target involved in tumor growth and angiogenesis.  They have developed a new drug design strategy to target RAF and other relevant kinases by designing allosteric inhibitors of these targets.  This is based on the use of defined chemical scaffolds to dock into an allosteric pocket on these kinases to render them inactive.  The combined use of in silico and biological screening has yielded drugs with nM anti-tumor activity that produce strong anti-tumor growth in mouse models following once a day oral dosing.   This approach appears to yield drugs that target tumors that are resistant to ATP mimetic inhibitors of RAF, Kit or PDGFR

John Lowe

Senior Director, Pathology

I joined Genentech in 2008 as Senior Director of Pathology, after having spent more than 18 years as an HHMI Investigator at the University of Michigan and then 3 years as Chair of Pathology at Case Western Reserve University School of Medicine. The role of Senior Director of Pathology in Research at Genentech offered attractive opportunities to do research in an outstanding, disease-focused scientific environment, while also helping to lead the scientific and research support activities of the Pathology department. These latter efforts help Genentech continue to make a major positive difference to the health and well being of a large number of patients afflicted with cancer, autoimmune syndromes, neurodegenerative diseases and other illnesses for which therapies are unsatisfactory or nonexistent.

An exceptional team of pathologists, laboratory managers, scientific associates and administrative staff in the department collaborate with me in these efforts. Additional outstanding pathologists, scientists, and managers continue to be recruited to assist us in ensuring that the department performs at the highest level. Our task is made more straightforward by the environment at Genentech, which is characterized by exceptionally bright, motivated and collaborative colleagues at every level, spectacular facilities, and workplace philosophies that are conducive to the highest levels of achievement.

Postdoctoral Mentor

The opportunity to mentor postdoctoral fellows at Genentech has been a stimulating and gratifying experience for me. This derives in part from the freedom afforded by the program to pursue research directions that are deemed to be important and interesting, even if these have no immediate therapeutic relevance. The special mentoring experience also derives from extraordinary breadth and quality of the core laboratories at Genentech, and the spectacular intellectual environment. Together, these circumstances provide an unparalleled opportunity for postdoctoral fellows, and their mentors, to engage in biomedical discovery of the highest caliber.

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Proceedings of the NYAS

Larry H. Bernstein, MD, FCAP, Curator

LPBI

Harnessing Cell Signaling to Treat Cancer

The 2015 Ross Prize in Molecular Medicine

Speakers: José Baselga (Memorial Sloan-Kettering Cancer Center) and Lewis C. Cantley (Weill Cornell Medical College)Presented by the Feinstein Institute for Medical Research, Molecular Medicine, and the New York Academy of Sciences

Reported by Hema Bashyam | Posted September 10, 2015

http://www.nyas.org/Publications/EBriefings/Detail.aspx?cid=9f87d38e-7295-4205-a46e-6d5839c8a471

The Ross Prize in Molecular Medicine was established in conjunction with the Feinstein Institute for Medical Research and Molecular Medicine.  The Prize recognizes biomedical scientists whose discoveries have changed the way medicine is practiced.  It is awarded to scientists who have made a significant impact in the understanding of human disease pathogenesis and/or treatment and who hold significant promise for making even greater contributions to the general field of molecular medicine.

The 2015 Ross Prize in Molecular Medicine was awarded to Dr. Lewis C. Cantley for his critical discoveries regarding signaling pathways in cancer cells. Dr. Cantley discovered the phosphoinositide 3-kinases (PI3K), which are critical for cell growth, proliferation, and survival. Following this discovery, he demonstrated that activity-enhancing mutations in PI3K were present in several types of human cancer, and he continued to investigate small molecule inhibitors of PI3K that are now approved for use in the treatment of cancer.

PI3K.Akt signaling pathway

PI3K.Akt signaling pathway

PI3K signaling pathway inhibitors in solid tumors and hematological malignancies

PI3K signaling pathway inhibitors in solid tumors and hematological malignancies

On June 8, 2015, the Feinstein Institute for Medical Research and its journal Molecular Medicine presented the 2015 Ross Prize at the New York Academy of Sciences. The Feinstein Institute’s focus is on advancing science to prevent disease and cure patients. Established in 2013, the prize has gone to scientists who have made seminal scientific observations and translated their findings into clinical applications. The symposium, titled Harnessing Cell Signaling Pathways to Treat Cancer, honored Lewis C. Cantley, the Meyer Director of the Sandra and Edward Meyer Cancer Center at Weill Cornell Medical College and New York-Presbyterian Hospital.

Cantley’s work on cellular responses to growth factors and hormones and his discovery of the enzyme phosphoinositide 3-kinase (PI3K), its signaling pathway, and the PI3K activity-enhancing mutations in several cancers furthered the current understanding of cell growth, malignant transformation, and the relationship between metabolism and cancer. The PI3K enzyme, which produces a cancer-driving lipid, is the target of several inhibitor molecules now in clinical trials for different types of cancer. Idelalisib, the first PI3K inhibitor to win FDA approval, has been a second-line treatment for chronic lymphocytic leukemia since mid-2014.

Harnessing Cell Signaling to Treat Cancer: The 2015 Ross Prize in Molecular Medicine. Academy eBriefings. 2015. Available at: www.nyas.org/RossPrize2015-eB

Advances in Immunomodulation

The 2014 Ross Prize in Molecular Medicine

Speakers: James P. Allison (University of Texas MD Anderson Cancer Center), Charles A. Dinarello (University of Colorado–Denver), and John J. O’Shea (National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH)

Presented by the Feinstein Institute for Medical Research, Molecular Medicine, and the New York Academy of Sciences

Reported by Hema Bashyam | Posted August 12, 2014

On June 9, 2014, the Feinstein Institute for Medical Research and Molecular Medicine presented the 2014 Ross Prize in Molecular Medicine at New York Academy of Sciences. The symposium, titled Advances in Immunomodulation, honored this year’s awardee, John J. O’Shea, scientific director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at the National Institutes of Health (NIH). The award ceremony was followed by presentations by O’Shea and other immunologists, who described discoveries that have enabled therapeutic targeting of cytokine signaling molecules in autoimmune and inflammatory diseases and of immune checkpoint modulators such as CTLA4 in cancer.

https://youtu.be/3dtKDonbraA

The 2014 Ross Prize in Molecular Medicine was awarded to Dr. John J. O’Shea for his discoveries in immunology and cytokine biology.

Cancer Cell Metabolism

Unique Features Inform New Therapeutic Opportunities

Organizers: Lydia Finley (Memorial Sloan-Kettering Cancer Center), Steven S. Gross (Weill Cornell Medical College), Costas A. Lyssiotis (Weill Cornell Medical College), and Sonya Dougal (The New York Academy of Sciences)
Keynote Speaker: Craig B. Thompson (Memorial Sloan-Kettering Cancer Center)Presented by Hot Topics in Life Sciences

Reported by Paul Riccio | Posted August 14, 2015

Cancer cells become lethal when they form large tumors, metastasize, and colonize diverse tissue types. These functions depend on different metabolic pathways from those active in non-transformed cells. Rapidly growing and proliferating cells require constant biosynthesis, in addition to energy in the form of ATP that all cells need for normal functions. The glucose and glutamine that are exclusively catabolized to water and carbon dioxide in quiescent cells are partly diverted to macromolecule production in dividing cells. Cell metabolism has long been a focus of molecular biology; for the cancer field its study represents a return to original lines of inquiry after years of focus on the genetics of cell transformation and the oncogenes involved in signal transduction pathways. At the May 28, 2015, Hot Topics in Life Sciences symposium Cancer Cell Metabolism: Unique Features Inform New Therapeutic Opportunities, the speakers expressed hope that a synthesis of these two approaches will yield progress in cancer research.

Craig B. Thompson of the Memorial Sloan-Kettering Cancer Center reviewed the basics of cell metabolism. After the initial step in glucose metabolism—glycolysis, conversion of glucose to two molecules of pyruvate—mitochondrial oxidative phosphorylation usually proceeds to yield ATP. But even in the presence of oxygen, many cancer cells divert pyruvate to fermentation, producing lactate. This less rewarding mode of ATP production demands a relatively high rate of glycolysis. Otto Warburg described this shift toward “aerobic glycolysis” in cancer cells in 1924. The molecular and genetic basis of the Warburg effect, however, has only recently come to light. Contrary to Warburg’s hypothesis that mitochondrial defects necessitate this shift, most cancer cells maintain the ability to execute oxidative phosphorylation and do fully catabolize a small amount of glucose.

Cancer cells are genetically differentiated from normal cells, but it is now clear that the metabolic shifts they exhibit are also partly required for division of normal cells. In a quiescent cell, maximum ATP production yields enough energy for cellular machinery, and at least 50% of free energy is used for ion transport across the membrane. When a cell divides, glycolytic intermediates are diverted from the tricarboxylic acid (TCA/Krebs) cycle to reserve carbon and nitrogen for fatty acid synthesis and for production of nonessential amino acids. DNA replication demands de novo nucleotide synthesis, beyond the supply garnered from recycling pathways in a non-dividing cell. Ribose, serine, and glycine (byproducts of glucose metabolism), as well as glutamine for pyrimidine production, are needed for nucleotide synthesis.

cancer cells consume glucose and glutamine

cancer cells consume glucose and glutamine

http://www.nyas.org/image.axd?id=62a5b6cc-1a92-4740-9cb9-b4f027726c09&t=635738696433870000

Cancer cells consume glucose and glutamine at higher levels than normal cells; many oncogenes implicated in signaling cascades also regulate metabolism of these nutrients. Research in cell signaling and metabolism may produce more effective combination therapies to treat cancer. (Image courtesy of Craig B. Thompson)

Glutamine carbon is required for hypoxic cell viability

Glutamine carbon is required for hypoxic cell viability

glutamine-supplies-the-succinate-pool-through-oxidative-and-reductive-metabolism

glutamine-supplies-the-succinate-pool-through-oxidative-and-reductive-metabolism

Thompson noted that previously overlooked clues from cell biology research are fundamental to current work to understand the unique metabolism of cancer cells. Harvey Eagle, who is largely credited with establishing a protocol and eponymous growth medium for culturing mammalian cells, did much of his foundational work with the HeLa cell line, derived from a pancreatic tumor. He observed a key feature of proliferating cells’ metabolism when he found that these cells need to be cultured in a buffered solution supplemented with glucose and, to his surprise, high levels of the nonessential amino acid glutamine. In an anabolic cell where Kreb’s intermediates are diverted to biosynthesis, glutamine metabolism provides a means of anaplerosis. Indeed, some tumors are said to be “glutamine addicted” and cannot survive without exogenous glutamine. The pharmaceutical company Calithera seeks to exploit this property with a new drug, CB-839, that inhibits glutaminase. It is in phase I clinical trials for treating cancer.

Christian Metallo of the University of California, San Diego, has used metabolic tracing to show that the glutamine contribution to lipogenesis shifts in mammalian cells in an oxygen-dependent manner. Cells cultured under hypoxic conditions, which might mimic those experienced by cancer cells in a poorly vascularized tumor, shift to reductive carboxylation of α-ketoglutarate. This glucose and glutamine derivative is also critical in stem cells.Lydia Finley of the Memorial Sloan-Kettering Cancer Center linked α-ketoglutarate levels in embryonic stem cells to the maintenance of demethylation and pluripotency.

Thompson argued that metabolic shifts that define cancer cells are not a secondary consequence of transformation, as has long been thought. The most common genetic mutations that drive cancers are in proto-oncogenes and tumor suppressor genes, which regulate pathways that control cell division. The constitutive activation of the cell cycle and the loss of checkpoints, however, are not enough to drive unmitigated growth; the cell must also undergo metabolic transformation to meet the energetic and synthetic demands of growth. This hypothesis, although perhaps intuitive, has only gained prominence with observations linking metabolic genes to control by signal transduction pathways.

The most commonly mutated gene in cancers is KRAS. The KRAS protein, a GTPase, normally functions as a molecular switch, relaying signals received by receptor tyrosine kinases and other receptors of extracellular signals. Two of its main targets include the MAPK and PI3K signal transduction cascades. But many indirect targets of KRAS are involved in cellular metabolism, including glucose transporters that are positively regulated by the PI3K/Akt pathway. Glutamine-addicted tumors are often characterized by the oncogenic expression of Myc, a transcription factor that promotes the expression of glutamine transporters as well as metabolic enzymes needed for biosynthesis. Constitutively activated KRAS thus primes a cell to undergo aerobic glycolysis by ensuring a steady influx of glucose. Selina Chen-Kiang of the Weill Cornell Medical College showed that therapies targeting the cell cycle indirectly reduce PI3K activation in cancer cells. In collaboration with Pfizer, her research group has tested the Cdk4/6 inhibitor palbociclib in early-phase clinical trials in Mantle cell lymphoma (MCL) patients. Genetic and biochemical analysis of tumors from palbociclib-responsive MCL patients exhibited reduced glucose transporter expression. Palbociclib is currently being tested as a cancer therapy in five separate clinical trials.

Jon Blenis of the Weill Cornell Medical Center identified another common genetic hallmark of cancer linked to metabolism, activated mTORC1 (mTOR Complex 1) signaling. Pathways that activate this complex integrate metabolism by sensing levels of nutrients, such as amino acids leucine and glutamine. The complex then regulates glucose and glutamine metabolism, amino acid production, and lipid biosynthesis. Blenis’s group has screened for targets in the pathways to identify combination therapies for mTORC1-activated cancers. One combines the glutamine metabolism inhibitor BAPTES with the HSP90 inhibitor 17-AAG to reduce transformed cells’ ability to carry out aerobic glycolysis and confront oxidative stress. A novel downstream target of mTORC1, the kinase SPRK2, is another promising lead.

Each tumor arises from a unique sequence of genetic lesions. Does each also have a unique metabolic signature? Most conclusions on this topic are drawn from studying isolated cancer cell lines, but tumor cells may execute metabolism differently in vivo. Matthew G. Vander Heiden of the Massachusetts Institute of Technology described rodent models of non-small cell lung carcinoma and pancreatic cancer, both driven by KRAS-activation and p53-knockout mutations. The first model had tumors characterized by increased glucose uptake; surprisingly, these tumors had elevated glucose catabolism through oxidative phosphorylation, in addition to elevated glycolytic metabolism. Glutamine tracing, however, showed almost no glutamine anaplerosis in vivo. But when explanted to culture conditions, cells from these tumors acquired glutamine dependence. In the pancreatic cancer model, no single nutrient was clearly favored as a metabolite. Albumin labeling experiments, however, showed that most of the pancreatic cancer cell biomass was derived from this extracellular protein.

It has long been assumed that extracellular protein is not a major fuel for most cells, but as Thompson observed, there is evidence that mammalian cells can draw on this energy source. Most cell culture media are supplemented with serum containing albumin, and the 0.74 mM concentration of albumin found in human plasma is equivalent to a 400 mM source of amino acids. The finding that cancer cells and cultured normal cells ingest extracellular protein through micropinocytosis has invigorated the field. The normal pathway to nutrient acquisition in slime molds, this process involves forming a vesicle around the extracellular contents and ingesting whatever is present in the surrounding media. The tumor cells in Vander Heiden’s pancreatic cancer model fed biosynthesis and anaplerosis through this unusual process of macropinocytosis and protein catabolism.

branched-chain amino acids are significant contributors to fatty acid synthesis in proliferating adipocytes

branched-chain amino acids are significant contributors to fatty acid synthesis in proliferating adipocytes

http://www.nyas.org/image.axd?id=7fdc9086-1a45-4711-a22d-a3ce9b6bdaef&t=635738696331830000

Using stable isotope tracers and mass spectrometry to quantify label incorporation, Metallo made the surprising observation that branched-chain amino acids are significant contributors to fatty acid synthesis in proliferating adipocytes. Cancer cells also catabolize protein through a lysosomal pathway to fuel biosynthesis. Inhibiting autophagy and protein catabolism in tumor cells could thus be new strategies for cancer therapies. (Image courtesy of Christian Metallo)

Thompson’s data show that mouse embryonic fibroblasts grown in leucine-depleted media cease proliferating. But their growth is rescued by the addition of albumin in excess of 3%. The addition of chloroquine to inhibit lysosomal proteolysis confirmed that albumin is metabolized via a macropinocytic mechanism; blocking the cell’s ability to form lysosomal vesicles abrogated the albumin rescue. Alec C. Kimmelman of Harvard Medical School explained that autophagy, another lysosome-dependent pathway, could be a therapeutic target in cancers such as pancreatic adenocarcinoma. Activated KRAS–driven pancreatic cancers have historically been among the most difficult to treat, with a 5-year survival rate of 6%. Kimmelman’s data show that genetic or pharmacologic inhibition of autophagy slows growth of pancreatic cancer cell lines and of tumors in genetically engineered mouse models. This work also demonstrates that autophagy has key roles in the metabolism of these tumors.

Altered metabolism facilitates the rapid proliferation of transformed cells; it is also implicated in metastasis and in the maintenance of pluripotency. Elena Piskounova of the University of Texas Southwestern Medical Center explained that successful metastasis, which is associated with worse cancer outcomes, is a relatively rare event; for every thousand cells that dissociate from a tumor, only one or two will successfully colonize a new site. Using a xenograft model with human melanoma cells introduced to immunocompromised mice, Piskounova showed that the limiting step in metastasis was cell survival in the circulatory system. Metabolic profiling revealed that these cells have high levels of oxidized glutathione and reactive oxygen species. Treatment of the xenografted mice with antioxidants increased the rate of metastasis, suggesting that, to survive, circulating tumor cells (CTCs) must overcome oxidative stress. Piskounova explained that cancer cells’ need for NADPH, a reducing molecule that helps cells combat oxidative stress, might be met through folate metabolism.

If it survives oxidative stress, a CTC must adapt metabolically to the target tissue it colonizes. Sohail Tavazoie of the Rockefeller University studies how colon cancer–derived cells colonize the liver. A screen for microRNAs that suppress colon-to-liver metastasis identified mir-483 and mir-551a, which targeted the brain-type creatine kinase (CKB). Further study revealed that this kinase is secreted from cells and then converts creatine to phosphocreatine in an ATP-dependent reaction. Transport of the phosphocreatine back into the cells provides a catabolic substrate to fuel cellular energy and biosynthetic needs. Drugs that promote oxidative stress or block folate metabolism, NADPH production, or creatine utilization hold promise as therapies to prevent metastasis.

The New York Academy of Sciences. Cancer Cell Metabolism: Unique Features Inform New Therapeutic Opportunities. Academy eBriefings. 2015. Available at: www.nyas.org/TumorMetabolism-eB

Click Chemistry in Biology and Medicine

Organizers: Peng Wu (Albert Einstein College of Medicine) and Jennifer Henry (formerly at The New York Academy of Sciences)
Keynote Speakers: Jim Paulson (Scripps Research Institute) and K. Barry Sharpless (Scripps Research Institute)Presented by the Chemical Biology Discussion Group

Reported by Megan Stephan | Posted November 21, 2014

click chemistry

click chemistry

http://www.nyas.org/image.axd?id=b9daf7c7-763f-4fe7-8b85-959be16e67e0&t=635513990247670000

Click chemistry is a new approach to synthetic organic chemistry that uses simple chemical building blocks and mild aqueous conditions to produce high-specificity ligands and labeling molecules for the investigation of biological systems. These reactions mimic those found in nature for building large complex molecules such as proteins, DNA, and RNA. Since its inception by K. Barry Sharpless, click chemistry has yielded several novel reactions that have been used to produce experimental tools and therapeutic agents, some of which are now in preclinical testing. The products of these reactions are particularly useful for investigating difficult-to-synthesize biological products such as glycans, and challenging, highly transient signaling activities such as those depending on redox reactions. On September 15, 2014, pioneers and young investigators in the field presented their recent work, providing a glimpse into the expanding possibilities of this synthetic methodology. The symposium, Click Chemistry in Biology and Medicine: New Developments and Strategies, was presented by the Academy’s Chemical Biology Discussion Group.

Lung Cancer

Advances in Current Treatment Modalities and Patient Classification

Organizers: Magdalena Alonso-Galicia (Forest Research Institute), Shashidhar S. Jatiani (Forest Research Institute), Huiping Jiang (Boehringer Ingelheim Pharmaceuticals), George Zavoico (HC Wainwright), and Jennifer Henry (The New York Academy of Sciences)
Speakers: Rolf Brekken (UT Southwestern Medical Center), Jessica S. Donington (NYU Langone Medical Center), Balazs Halmos (Columbia University Medical Center), Roy S. Herbst (Yale School of Medicine), and Suresh S. Ramalingam (Emory University)Presented by the Biochemical Pharmacology Discussion Group

Reported by Paul Riccio | Posted May 28, 2014

Like other cancers of the internal organs not often diagnosed until late stages of disease, lung cancer is among the deadliest. In the U.S., the 5-year survival rate after diagnosis is lower than 15%. Lung cancer is also among the most common cancers, in part because of the continued prevalence of tobacco smoking. The American Cancer Association estimates that in 2014, 224 210 people will be newly diagnosed with lung cancer and 159 260 deaths will be associated with the disease. On March 25, 2014, the Biochemical Pharmacology Discussion Group convened physicians and scientists for the Lung Cancer: Advances in Current Treatment Modalities and Patient Classification symposium, to discuss advances in treatment as well as new information about genetic heterogeneity that may inform future trials. Despite poor outcomes for current treatments, the speakers were optimistic that therapeutic innovations will gradually improve prognoses for this seemingly intractable disease.

From refinements in surgical techniques to drugs targeting specific oncoproteins, the range of precision therapeutic tools to combat lung cancer is growing. Several speakers cautioned, however, that technological innovation alone will not dramatically transform lung cancer treatment. Rather, physicians must tailor treatments for each patient and deploy tools discriminately, biopsying and sequencing each tumor, for example, and choosing the most appropriate drugs among many. Roy Herbst and Balazs Halmos both related adaptive treatments that resulted in several rounds of remission in patients. However, successes like these have been achieved in large medical centers where clinicians had access to drug trials. Adapting protocols for personalized medicine in a wide range of clinical settings remains challenging.

In his introduction to the symposium, Shashidhar S. Jatiani of the Forest Research Institute reviewed the sub-classification of lung cancer into small cell and non-small cell types. The former is a grim diagnosis: patients almost always present with advanced disease because metastasis occurs early. Chemotherapy is the standard treatment. More common, however, is a diagnosis of non-small cell lung cancer (NSCLC), which accounts for approximately 85% of new cases. The speakers focused on the treatment of NSCLCs, which usually arise in the epithelium of the branched lung, most commonly as an adenocarcinoma.

When NSCLC is identified as a pre-metastatic tumor, the most effective treatment is surgery. Jessica S. Doningtonof NYU Langone Medical Center explained that a balance must be achieved between complete removal of cancerous cells and preservation of lung function. The standard of care is removal of the lobe containing the tumor, one of five lobes in the lungs. A complete lobectomy is an invasive procedure, requiring the surgeon to break several ribs to access the thoracic cavity. The average age of patients at diagnosis is 70 years old, and many patients require substantial care to recover from such a surgery. But it has become possible to perform more precise surgery: rather than remove the lobe entirely, many surgeons now resect a minimal amount of tissue, directed by the branched morphology of the lung, in a procedure called a segmentectomy. In addition, the use of laparoscopic cameras in a technique known as video-assisted thoracic surgery (VATS) now limits the size of the incision to the circumference of the tumor itself. An increasing number of hospitals now support robot-assisted surgery using the da Vinci Surgical System, which can also be used to achieve less-invasive segmentectomies. Both techniques decreased morbidity and mortality when compared to open thoracic surgery. Although purchasing and maintaining a da Vinci system is a substantial investment, significantly less money is required for postoperative intensive care and respiratory therapy when VATS and robot-assisted surgery are used compared to open surgery.

New technologies in the operating room, such as the robotic da Vinci Surgical System pictured above, allow surgeons to remove malignant tissue more precisely. Laparoscopic and robot-assisted surgeries yield faster patient recoveries and fewer post-operative expenses. (Image courtesy of Jessica S. Donington)

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Inoperable tumors that arise close to the main airways, or in patients too frail to undergo surgery, are treated with radiation therapy. In an adaptation of a radiotherapy technique originally applied to brain tumors, lung tumors are now targeted more precisely and with higher doses of radiation using hypo-fractionated stereotactic body radiation therapy (SBRT). In the Netherlands, where practitioners have aggressively phased out older modes of radiation therapy in favor of SBRT, a greater than 36% increase in 8-month survival has been observed concurrent with the change.

Underlying the success of VATS, robot-assisted surgery, and SBRT is the theme that “less is more,” Donington said. Less healthy tissue is destroyed, less time and resources are required for patient recovery, and patients are ideally better prepared to undergo adjuvant therapy.

When the primary tumor has metastasized, as in more advanced cases, chemotherapy is often prescribed in addition to surgical or radiological interventions. Unfortunately, in most patients traditional chemotherapy regimens afford delayed progression at best and are rarely curative. No progress has been achieved in developing more potent chemotherapies or combinations of cytotoxic drugs for lung cancer in over ten years. In response, many physician-scientists, including symposium speakers Roy S. Herbst, Balazs Halmos, and Suresh S. Ramalingam, have begun studying the efficacy of new drugs targeting specific oncogenic pathways. Through whole exome sequencing of lung tumors, a portrait of the most common genetic aberrations has emerged. Mutations in KRAS have been known to occur in lung adenocarcinomas for at least ten years, and comprehensive sequencing efforts have additionally implicated oncogenes, including the receptor tyrosine kinases EGFR, MET, RET, NTRK1, ROS1, and HER2; the serine threonine kinase BRAF; and the atypical receptor tyrosine kinase ALK. In fact, only 37% of examined lung adenocarcinomas do not harbor mutations in any of these genes.

Molecular testing of biopsied lung tumors

Molecular testing of biopsied lung tumors

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Molecular testing of biopsied lung tumors is necessary to match patients with the best therapeutic options. Through clinical trials and collaborative sequencing efforts, a comprehensive list of the mutations that drive lung cancer is emerging. As shown above in data reported by the Lung Cancer Mutation Consortium, these mutations are frequently in oncogenes, particularly receptor tyrosine kinases. (Image courtesy of Suresh S. Ramalingam)

Providing some historical perspective, Roy S. Herbst of Yale School of Medicine told participants that the first-generation receptor tyrosine kinase inhibitors (TKIs) gefitinib and erlotinib entered the clinic in 1997, delivering modest response rates of less than 10%. Ten years later, with the emergence of deeper tumor exome sequencing, it became clear that responders were much more likely to harbor specific EGFR mutations, such as deletion of exons 19 or 21, which encode parts of the catalytic domain. Tumors with EGFR exon 19 deletion, in particular, exhibit susceptibility to erlotinib, which functions as a competitive inhibitor at the ATP binding site. Balazs Halmosof Columbia University Medical Center observed that based on the specificity of the TKIs, the conscientious clinician will need to become something of a “mutation aficionado,” to be able to match the most efficacious TKI to each patient. At present, such choices are largely confined to clinical trials because erlotinib, gefitinib, imatinib, and afatinib are the only TKIs approved for lung cancer. Physician training will be needed as more of these drugs achieve FDA approval. To illustrate the complexity of genetics-based drug choice, Herbst mentioned the BATTLE-2 clinical trial, which he oversees. It compares several TKIs and employs a full-time statistician to conduct a Bayesian learning method to help oncologists to make the best drug/tumor match.

Receptor tyrosine kinase (RTK) inhibitors may target the mutated pathways that manifest in many lung adenocarcinomas, but a considerable proportion of tumors do not exhibit obvious mutations. From a therapeutic perspective, therefore, drugs must be developed to target more general molecular pathways that are active in tumor cells. Suresh S. Ramalingam of Emory University reviewed one such strategy, which targets the heat-shock protein HSP90. Heat-shock proteins bind and stabilize client proteins, including oncoproteins, thus preventing their degradation through the proteasome. Drugs that inhibit HSPs, such as the second-generation HSP90 inhibitor ganetespib, should theoretically facilitate the indirect degradation of oncoproteins. Moreover, such drugs will only target cancer cells, because HSP90 remains at very low levels in healthy tissue. Ramalingam outlined an active phase III study of ganetespib, the GALAXY-2 trial.

The TKIs are indeed revolutionary tools in the field of molecular oncology, but frustratingly, these novel agents only delay disease progression and do not increase survival rates among lung cancer patients. Selective pressures in the tumor microenvironment favor either cells that acquire subsequent mutations or the activation of downstream effectors that thwart the loss of the RTK. As Halmos explained, these mutations often occur in the RTKs themselves. In the case of epidermal growth factor receptor (EGFR), insertions into exon 20, or a threonine to methionine substitution in a part of the protein encoded by exon 20, render the mutant receptor resistant to TKIs. The speakers speculated that combinations of drugs targeting several oncoproteins may circumvent the problem of tumor resistance, but available agents are limited and there are no obvious putative combination therapies.

Rolf Brekken of UT Southwestern Medical Center outlined the rationale for using immunotherapy to combat lung cancer. A hallmark of tumor cells is their evasion of immune detection, achieved in part by the presentation of phosphatidylserine (PS) in the outer cell membrane. In healthy cells, this phospholipid is confined to the inner leaflet of the cell membrane. When PS becomes externalized, as in normal apoptosis, PS receptors in macrophages that detect the dying cell trigger the release of immunosuppressive cytokines. Brekken hypothesized that if this process can be inhibited, an adaptive immune response might ensue. The monoclonal antibody bavituximab, developed by Peregrine Pharmaceuticals, targets glycoprotein-bound PS. Preclinical data using bavituximab to combat a rodent tumor model is encouraging, with tumors completely regressing in some rats. Brekken’s lab has observed several lines of evidence suggesting that an innate immune response occurred in bavituximab-treated rats, leading to the development of anti-tumor T cells. As several speakers noted, the best test of this therapy would be to reintroduce tumor cells to the rats and observe whether the cells are targeted and destroyed by an immune response. Such a result would be astonishing. Indeed, the potential of immunotherapy in cancer treatment has recently received considerable attention from the popular media. Several antibodies have entered clinical trials, including bavituximab, which is in a phase III NSCLC trial called SUNRISE.

From new developments in surgery and radiation therapy to a rapidly expanding collection of drugs in the field of molecular oncology, we are poised to improve the prognosis for many lung cancer patients. Key to success will be a continued emphasis on personalized medicine, augmenting the standard diagnostic regimen to include molecular testing to match each patient with a targeted therapeutic approach.

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Confluence of Chemistry, Physics, and Biology

Curator: Larry H. Bernstein, MD, FCAP

 

  1. How Nanotechnology Works by Kevin Bonsor and Jonathan Strickland

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There’s an unprecedented multidisciplinary convergence of scientists dedicated to the study of a world so small, we can’t see it — even with a light microscope. That world is the field of nanotechnology, the realm ofatoms and nanostructures.Nanotechnology i­s so new, no one is really sure what will come of it. Even so, predictions range from the ability to reproduce things like diamonds and food to the world being devoured by self-replicating nanorobots.In order to understand the unusual world of nanotechnology, we need to get an idea of the units of measure involved. A centimeter is one-hundredth of a meter, a millimeter is one-thousandth of a meter, and a micrometer is one-millionth of a meter, but all of these are still huge compared to the nanoscale. A nanometer (nm) is one-billionth of a meter, smaller than the wavelength of visible light and a hundred-thousandth the width of a human hair

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As small as a nanometer is, it’s still large compared to the atomic scale. An atom has a diameter of about 0.1 nm. An atom’s nucleus is much smaller — about 0.00001 nm. Atoms are the building blocks for all matter in our universe. You and everything around you are made of atoms. Nature has perfected the science of manufacturing matter molecularly. For instance, our bodies are assembled in a specific manner from millions of living cells. Cells are nature’s nanomachines. At the atomic scale, elements are at their most basic level. On the nanoscale, we can potentially put these atoms together to make almost anything.

In a lecture called “Small Wonders:The World of Nanoscience,” Nobel Prize winner Dr. Horst Störmer said that the nanoscale is more interesting than the atomic scale because the nanoscale is the first point where we can assemble something — it’s not until we start putting atoms together that we can make anything useful.

In this article, we’ll learn about what nanotechnology means today and what the future of nanotechnology may hold. We’ll also look at the potential risks that come with working at the nanoscale.

In the next section, we’ll learn more about our world on the nanoscale.

The World of Nanotechnology

Experts sometimes disagree about what constitutes the nanoscale, but in general, you can think ofnanotechnology dealing with anything measuring between 1 and 100 nm. Larger than that is the microscale, and smaller than that is the atomic scale.

Nanotechnology is rapidly becoming an interdisciplinary field. Biologists, chemists, physicists and engineers are all involved in the study of substances at the nanoscale. Dr. Störmer hopes that the different disciplines develop a common language and communicate with one another

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Only then, he says, can we effectively teach nanoscience since you can't understand the world of nanotechnology without a solid background in multiple sciences.

One of the exciting and challenging aspects of the nanoscale is the role that quantum mechanics plays in it. The rules of quantum mechanics are very different from classical physics, ­which means that the behavior of substances at the nanoscale can sometimes contradict common sense by behaving erratically. You can’t walk up to a wall and immediately teleport to the other side of it, but at the nanoscale an electron can — it’s called electron tunneling. Substances that are insulators, meaning they can’t carry an electric charge, in bulk form might become semiconductors when reduced to the nanoscale. Melting points can change due to an increase in surface area. Much of nanoscience requires that you forget what you know and start learning all over again.

So what does this all mean? Right now, it means that scientists are experimenting with substances at the nanoscale to learn about their properties and how we might be able to take advantage of them in various applications. Engineers are trying to use nano-size wires to create smaller, more powerful microprocessors. Doctors are searching for ways to use nanoparticles in medical applications. Still, we’ve got a long way to go before nanotechnology dominates the technology and medical markets.

In the next section, we’ll look at two important nanotechnology structures: nanowires and carbon nanotubes.

IT’S A SMALL WORLD AFTER ALL

At the nanoscale, objects are so small that we can’t see them — even with a light microscope. Nanoscientists have to use tools like scanning tunneling microscopes or atomic force microscopes to observe anything at the nanoscale. Scanning tunneling microscopes use a weak electric current to probe the scanned material. Atomic force microscopes scan surfaces with an incredibly fine tip. Both microscopes send data to a computer, which can assemble the information and project it graphically onto a monitor

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Nanowires and Carbon Nanotubes

Currently, scientists find two nano-size structures of particular interest: nanowires and carbon nanotubes. Nanowires are wires with a very small diameter, sometimes as small as 1 nanometer. Scientists hope to use them to build tiny transistors for computer chips and other electronic devices. In the last couple of years, carbon nanotubes have overshadowed nanowires. We’re still learning about these structures, but what we’ve learned so far is very exciting.

A carbon nanotube is a nano-size cylinder of carbon atoms. Imagine a sheet of carbon atoms, which would look like a sheet of hexagons. If you roll that sheet into a tube, you’d have a carbon nanotube. Carbon nanotube properties depend on how you roll the sheet. In other words, even though all carbon nanotubes are made of carbon, they can be very different from one another based on how you align the individual atoms.

With the right arrangement of atoms, you can create a carbon nanotube that’s hundreds of times stronger than steel, but six times lighter

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Engineers plan to make building material out of carbon nanotubes, particularly for things like cars and airplanes. Lighter vehicles would mean better fuel efficiency, and the added strength translates to increased passenger safety.

Carbon nanotubes can also be effective semiconductors with the right arrangement of atoms. Scientists are still working on finding ways to make carbon nanotubes a realistic option for transistors in microprocessors and other electronics.

In the next section, we’ll look at products that are taking advantage of nanotechnology.

GRAPHITE VS. DIAMONDS

What’s the difference between graphite and diamonds? Both materials are made of carbon, but both have vastly different properties. Graphite is soft; diamonds are hard. Graphite conducts electricity, but diamonds are insulators and can’t conduct electricity. Graphite is opaque; diamonds are usually transparent. Graphite and diamonds have these properties because of the way the carbon atoms bond together at the nanoscale.

Products with Nanotechnology

You might be surprised to find out how many products on the market are already benefiting from nanotechnology.

Bridgestone engineers developed this Quick Response Liquid Powder Display, a flexible digital screen, using nanotechnology.

Yoshikazu Tsuno/AFP/Getty Images

  • Sunscreen – Many sunscreens contain nanoparticles of zinc oxide or titanium oxide. Older sunscreen formulas use larger particles, which is what gives most sunscreens their whitish color. Smaller particles are less visible, meaning that when you rub the sunscreen into your skin, it doesn’t give you a whitish tinge.
  • Self-cleaning glass – A company called Pilkington offers a product they call Activ Glass, which uses nanoparticles to make the glassphotocatalytic and hydrophilic. The photocatalytic effect means that when UV radiation from light hits the glass, nanoparticles become energized and begin to break down and loosen organic molecules on the glass (in other words, dirt). Hydrophilic means that when water makes contact with the glass, it spreads across the glass evenly, which helps wash the glass clean.
  • Clothing – Scientists are using nanoparticles to enhance your clothing. By coating fabrics with a thin layer of zinc oxide nanoparticles, manufacturers can create clothes that give better protection from UV radiation. Some clothes have nanoparticles in the form of little hairs or whiskers that help repel water and other materials, making the clothing stain-resistant.
  • Scratch-resistant coatings – Engineers discovered that adding aluminum silicate nanoparticles to scratch-resistant polymer coatings made the coatings more effective, increasing resistance to chipping and scratching. Scratch-resistant coatings are common on everything from cars to eyeglass lenses.
  • Antimicrobial bandages – Scientist Robert Burrell created a process to manufacture antibacterial bandages using nanoparticles of silver. Silver ions block microbes’ cellular respiration

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    . In other words, silver smothers harmful cells, killing them.

New products incorporating nanotechnology are coming out every day. Wrinkle-resistant fabrics, deep-penetrating cosmetics, liquid crystal displays (LCD) and other conveniences using nanotechnology are on the market. Before long, we’ll see dozens of other products that take advantage of nanotechnology ranging from Intel microprocessors to bio-nanobatteries, capacitors only a few nanometers thick. While this is exciting, it’s only the tip of the iceberg as far as how nanotechnology may impact us in the future.

In the next section, we’ll look at some of the incredible things that nanotechnology may hold for us.­

TENNIS, ANYONE?

Nanotechnology is making a big impact on the tennis world. In 2002, the tennis racket company Babolat introduced the VS Nanotube Power racket. They made the racket out of carbon nanotube-infused graphite, meaning the racket was very light, yet many times stronger than steel. Meanwhile, tennis ball manufacturer Wilson introduced the Double Core tennis ball. These balls have a coating of clay nanoparticles on the inner core. The clay acts as a sealant, making it very difficult for air to escape the ball.

Accelerate Your Time to Print Using ANSYS™ SpaceClaim 2015

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ANSYS™ SpaceClaim 2015 provides new features to the STL Prep module, including:

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  4. An unsupported material warning with an overhangs button to add support material where it is needed

http://www.spaceclaim.com/en/Mkting/ppc_SpaceClaim2015_FacetedModels_Video_ThankYou.aspx

The Future of Nanotechnology

In the world of “Star Trek,” machines called replicators can produce practically any physical object, from weapons to a steaming cup of Earl Grey tea. Long considered to be exclusively the product of science fiction, today some people believe replicators are a very real possibility. They call it molecular manufacturing, and if it ever does become a reality, it could drastically change the world.

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Atoms and molecules stick together because they have complementary shapes that lock together, or charges that attract. Just like with magnets, a positively charged atom will stick to a negatively charged atom. As millions of these atoms are pieced together by nanomachines, a specific product will begin to take shape. The goal of molecular manufacturing is to manipulate atoms individually and place them in a pattern to produce a desired structure.

The first step would be to develop nanoscopic machines, called assemblers, that scientists can program to manipulate atoms and molecules at will. Rice University Professor Richard Smalley points out that it would take a single nanoscopic machine millions of years to assemble a meaningful amount of material. In order for molecular manufacturing to be practical, you would need trillions of assemblers working together simultaneously. Eric Drexler believes that assemblers could first replicate themselves, building other assemblers. Each generation would build another, resulting in exponential growth until there are enough assemblers to produce objects

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Assemblers might have moving parts like the nanogears in this concept drawing.

Trillions of assemblers and replicators could fill an area smaller than a cubic millimeter, and could still be too small for us to see with the naked eye. Assemblers and replicators could work together to automatically construct products, and could eventually replace all traditional labor methods. This could vastly decrease manufacturing costs, thereby making consumer goods plentiful, cheaper and stronger. Eventually, we could be able to replicate anything, including diamonds, water and food. Famine could be eradicated by machines that fabricate foods to feed the hungry.

Nanotechnology may have its biggest impact on the medical industry. Patients will drink fluids containing nanorobots programmed to attack and reconstruct the molecular structure of cancer cells and viruses. There’s even speculation that nanorobots could slow or reverse the aging process, and life expectancy could increase significantly. Nanorobots could also be programmed to perform delicate surgeries — suchnanosurgeons could work at a level a thousand times more precise than the sharpest scalpel

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By working on such a small scale, a nanorobot could operate without leaving the scars that conventional surgery does. Additionally, nanorobots could change your physical appearance. They could be programmed to perform cosmetic surgery, rearranging your atoms to change your ears, nose, eye color or any other physical feature you wish to alter.

Nanotechnology has the potential to have a positive effect on the environment. For instance, scientists could program airborne nanorobots to rebuild the thinning ozone layer. Nanorobots could remove contaminants from water sources and clean up oil spills. Manufacturing materials using the bottom-upmethod of nanotechnology also creates less pollution than conventional manufacturing processes. Our dependence on non-renewable resources would diminish with nanotechnology. Cutting down trees, mining coal or drilling for oil may no longer be necessary — nanomachines could produce those resources.

Many nanotechnology experts feel that these applications are well outside the realm of possibility, at least for the foreseeable future. They caution that the more exotic applications are only theoretical. Some worry that nanotechnology will end up like virtual reality — in other words, the hype surrounding nanotechnology will continue to build until the limitations of the field become public knowledge, and then interest (and funding) will quickly dissipate.

In the next section, we’ll look at some of the challenges and risks of nanotechnology.

HOW NEW IS NANOTECHNOLOGY?

In 1959, physicist and future Nobel prize winner Richard Feynman gave a lecture to the American Physical Society called “There’s Plenty of Room at the Bottom.” The focus of his speech was about the field of miniaturization and how he believed man would create increasingly smaller, powerful devices.

In 1986, K. Eric Drexler wrote “Engines of Creation” and introduced the term nanotechnology. Scientific research really expanded over the last decade. Inventors and corporations aren’t far behind — today, more than 13,000 patents registered with the U.S. Patent Office have the word “nano” in them

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Nanotechnology Challenges, Risks and Ethics

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The most immediate challenge in nanotechnology is that we need to learn more about materials and their properties at the nanoscale. Universities and corporations across the world are rigorously studying how atoms fit together to form larger structures. We’re still learning about how quantum mechanics impact substances at the nanoscale.

Because elements at the nanoscale behave differently than they do in their bulk form, there’s a concern that some nanoparticles could be toxic. Some doctors worry that the nanoparticles are so small, that they could easily cross the blood-brain barrier, a membrane that protects the brain from harmful chemicals in the bloodstream. If we plan on using nanoparticles to coat everything from our clothing to our highways, we need to be sure that they won’t poison us.

Closely related to the knowledge barrier is the technical barrier. In order for the incredible predictions regarding nanotechnology to come true, we have to find ways to mass produce nano-size products like transistors and nanowires. While we can use nanoparticles to build things like tennis rackets and make wrinkle-free fabrics, we can’t make really complex microprocessor chips with nanowires yet.

There are some hefty social concerns about nanotechnology too. Nanotechnology may also allow us to create more powerful weapons, both lethal and non-lethal. Some organizations are concerned that we’ll only get around to examining the ethical implications of nanotechnology in weaponry after these devices are built. They urge scientists and politicians to examine carefully all the possibilities of nanotechnology before designing increasingly powerful weapons.

If nanotechnology in medicine makes it possible for us to enhance ourselves physically, is that ethical? In theory, medical nanotechnology could make us smarter, stronger and give us other abilities ranging from rapid healing to night vision. Should we pursue such goals? Could we continue to call ourselves human, or would we become transhuman — the next step on man’s evolutionary path? Since almost every technology starts off as very expensive, would this mean we’d create two races of people — a wealthy race of modified humans and a poorer population of unaltered people? We don’t have answers to these questions, but several organizations are urging nanoscientists to consider these implications now, before it becomes too late.

Not all questions involve altering the human body — some deal with the world of finance and economics. If molecular manufacturing becomes a reality, how will that impact the world’s economy? Assuming we can build anything we need with the click of a button, what happens to all the manufacturing jobs? If you can create anything using a replicator, what happens to currency? Would we move to a completely electronic economy? Would we even need money?

Whether we’ll actually need to answer all of these questions is a matter of debate. Many experts think that concerns like grey goo and transhumans are at best premature, and probably unnecessary. Even so, nanotechnology will definitely continue to impact us as we learn more about the enormous potential of the nanoscale.

APOCALYPTIC GOO

Eric Drexler, the man who introduced the word nanotechnology, presented a frightening apocalyptic vision — self-replicating nanorobots malfunctioning, duplicating themselves a trillion times over, rapidly consuming the entire world as they pull carbon from the environment to build more of themselves. It’s called the “grey goo” scenario, where a synthetic nano-size device replaces all organic material. Another scenario involves nanodevices made of organic material wiping out the Earth — the “green goo” scenario.

The Technion’s Russell Berrie Nanotechnology Institute is a world-leader in nanotechnology research having made seminal discoveries in the field.

Breakthroughs in Nanotechnology

  • Prof. Ester Segal and a team of Israeli and American researchers find that silicon nanomaterials used for the localized delivery of chemotherapy drugs behave differently in cancerous tumors than they do in healthy tissues. The findings could help scientists better design such materials to facilitate the controlled and targeted release of the chemotherapy drugs to tumors.
  • Associate Professor Alex Leshansky of the Faculty of Chemical Engineering is part of an international team that has created a tiny screw-shaped propeller that can move in a gel-like fluid, mimicking the environment in a living organism. The breakthrough brings closer the day robots that are only nanometers – billionths of a meter – in length, can maneuver and perform medicine inside the human body and possibly inside human cells.
  • Prof. Amit Miller and a team of researchers at the Technion and Boston University have discovered a simple way to control the passage of DNA molecules through nanopore sensors. The breakthrough could lead to low-cost, ultra-fast DNA sequencing that would revolutionize healthcare and biomedical research, and spark major advances in drug development, preventative medicine and personalized medicine.

– Israeli Prime Minister Benjamin Netanyahu presents U.S. President Barack Obama with nano-sized inscribed replicas of the Declarations of Independence of the United States and the State of Israel. The replicas were created by scientists at the Technion’s Russell Berrie Nanotechnology Institute (RBNI). (03/13)

– Prof. Nir Tessler has found a way to generate an electrical field inside solar cells that use inorganic nanocrystals or “quantum dots,” making them more suitable for building an energy-efficient nanocrystal solar cell. (11/11)

– Researchers led by Prof. Wayne Kaplan discover the nature of nanometer-thick layers between different materials and find that they have both solid and liquid properties. The results could enable scientists to improve the resilience of the bond between ceramic materials and metals, two types of materials that “do not like” to come into contact. Applications include cutting tools for metal-working; composites for brake pads; the joins between metal conducting wires and chips in computers; and the application of protective ceramic coatings on jet engine blades. (05/11)

– Israeli President Shimon Peres presents Pope Benedict XVI with a “Nano-Bible” smaller than a pinhead. Created by researchers at the Technion-Israel Institute of Technology, the complete punctuated and vowelized version of the Old Testament takes up just 0.5 square millimeters. The idea to write the Bible on such a tiny surface was conceived by Professor Uri Sivan, the first head of the university’s Russell Berrie Nanotechnology Institute (RBNI). (05/09)

Nanotechnology and medicine

Expert Opinion on Biological Therapy  2003; Volume 3, Issue 4, 655-663
Dwaine F Emerich & Christopher G Thanos   http://dx.doi.org:/10.1517/14712598.3.4.655

Nanotechnology, or systems/device manufacture at the molecular level, is a multidisciplinary scientific field undergoing explosive development. The genesis of nanotechnology can be traced to the promise of revolutionary advances across medicine, communications, genomics and robotics. On the surface, miniaturisation provides cost effective and more rapidly functioning mechanical, chemical and biological components. Less obvious though is the fact that nanometre sized objects also possess remarkable self-ordering and assembly behaviours under the control of forces quite different from macro objects. These unique behaviours are what make nanotechnology possible, and by increasing our understanding of these processes, new approaches to enhancing the quality of human life will surely be developed. A complete list of the potential applications of nanotechnology is too vast and diverse to discuss in detail, but without doubt one of the greatest values of nanotechnology will be in the development of new and effective medical treatments (i.e., nanomedicine). This review focuses on the potential of nanotechnology in medicine, including the development of nanoparticles for diagnostic and screening purposes, artificial receptors, DNA sequencing using nanopores, manufacture of unique drug delivery systems, gene therapy applications and the enablement of tissue engineering.

Nanotechnology in Medicine – Nanomedicine

The use of nanotechnology in medicine offers some exciting possibilities. Some techniques are only imagined, while others are at various stages of testing, or actually being used today.

Nanotechnology in medicine involves applications of nanoparticles currently under development, as well as longer range research that involves the use of manufactured nano-robots to make repairs at the cellular level (sometimes referred to as nanomedicine).

Whatever you call it, the use of nanotechnology in the field of medicine could revolutionize the way we detect and treat damage to the human body and disease in the future, and many techniques only imagined a few years ago are making remarkable progress towards becoming realities.

Nanotechnology in Medicine Application: Drug Delivery

One application of nanotechnology in medicine currently being developed involves employing nanoparticles to deliver drugs, heat, light or other substances to specific types of cells (such as cancer cells). Particles are engineered so that they are attracted to diseased cells, which allows direct treatment of those cells. This technique reduces damage to healthy cells in the body and allows for earlier detection of disease.

For example, nanoparticles that deliver chemotherapy drugs directly to cancer cells are under development. Tests are in progress for targeted delivery of chemotherapy drugs and their final approval for their use with cancer patients is pending. One company, CytImmune has published the results of a Phase 1 Clinical Trial of their first targeted chemotherapy drug and another company, BIND Biosciences, has published preliminary results of a Phase 1 Clinical Trial for their first targeted chemotherapy drug and is proceeding with a Phase 2 Clinical Trial.

Researchers at the University of Illinois have demonstated that gelatin nanoparticles can be used to deliver drugs to damaged brain tissue.

Researchers at MIT using nanoparticles to deliver vaccine. The nanoparticles protect the vaccine, allowing the vaccine time to trigger a stronger immune response.

Reserchers are developing a method to release insulin that uses a sponge-like matrix that contains insulin as well as nanocapsules containing an enzyme. When the glucose level rises the nanocapsules release hydrogen ions, which bind to the fibers making up the matrix. The hydrogen ions make the fibers positively charged, repelling each other and creating openings in the matrix through which insulin is released.

Researchers are developing a nanoparticle that can be taken orally and pass through the lining of the intestines into the bloodsteam. This should allow drugs that must now be delivered with a shot to be taken in pill form.

Researchers are also developing a nanoparticle to defeat viruses. The nanoparticle does not actually destroy viruses molecules, but delivers an enzyme that prevents the reproduction of viruses molecules in the patients bloodstream.

Read more about nanomedicine in drug delivery

Nanotechnology in Medicine Application: Therapy Techniques

Researchers have developed “nanosponges” that absorb toxins and remove them from the bloodstream. The nanosponges are polymer nanoparticles coated with a red blood cell membrane. The red blood cell membrane allows the nanosponges to travel freely in the bloodstream and attract the toxins.

Researchers have demonstrated a method to generate sound waves that are powerful, but also tightly focused, that may eventually be used for noninvasive surgery. They use a lens coated with carbon nanotubes to convert light from a laser to focused sound waves. The intent is to develop a method that could blast tumors or other diseased areas without damaging healthy tissue.

Researchers are investigating the use of bismuth nanoparticles to concentrate radiation used in radiation therapy to treat cancer tumors. Initial results indicate that the bismuth nanoparticles would increase the radiation dose to the tumor by 90 percent.

Nanoparticles composed of polyethylene glycol-hydrophilic carbon clusters (PEG-HCC) have been shown to absorb free radicals at a much higher rate than the proteins out body uses for this function. This ability to absorb free radicals may reduce the harm that is caused by the release of free radicals after a brain injury.

Targeted heat therapy is being developed to destroy breast cancer tumors. In this method antibodies that are strongly attracted to proteins produced in one type of breast cancer cell are attached to nanotubes, causing the nanotubes to accumulate at the tumor. Infrared light from a laser is absorbed by the nanotubes and produces heat that incinerates the tumor.

Read more about nanomedicine therapy techniques

Nanotechnology in Medicine Application: Diagnostic Techniques

Reseachers at MIT have developed a sensor using carbon nanotubes embedded in a gel; that can be injected under the skin to monitor the level of nitric oxide in the bloodstream. The level of nitric oxide is important because it indicates inflamation, allowing easy monitoring of imflammatory diseases. In tests with laboratory mice the sensor remained functional for over a year.

Researchers at the University of Michigan are developing a sensor that can detect a very low level of cancer cells, as low as 3 to 5 cancer cells in a one milliliter in a blood sample. They grow sheets of graphene oxide, on which they attach molecules containing an antibody that attaches to the cancer cells. They then tag the cancer cells with fluorescent molecules to make the cancer cells stand out in a microscope.

Researchers have demonstrated a way to use nanoparticles for early diagnosis of infectious disease. The nanoparticles attach to molecules in the blood stream indicating the start of an infection. When the sample is scanned for Raman scattering the nanoparticles enhance the Raman signal, allowing detection of the molecules indicating an infectious disease at a very early stage.

A test for early detection of kidney damage is being developed. The method uses gold nanorodsfunctionalized to attach to the type of protein generated by damaged kidneys. When protein accumulates on the nanorod the color of the nanorod shifts. The test is designed to be done quickly and inexpensively for early detection of a problem.

Read more about nanomedicine diagnostic techniques

Nanotechnology in Medicine Application: Anti-Microbial Techniques

One of the earliest nanomedicine applications was the use of nanocrystalline silver which is  as an antimicrobial agent for the treatment of wounds, as discussed on the Nucryst Pharmaceuticals Corporation website.

A nanoparticle cream has been shown to fight staph infections. The nanoparticles contain nitric oxide gas, which is known to kill bacteria. Studies on mice have shown that using the nanoparticle cream to release nitric oxide gas at the site of staph abscesses significantly reduced the infection.

Burn dressing that is coated with nanocapsules containing antibotics. If a infection starts the harmful bacteria in the wound causes the nanocapsules to break open, releasing the antibotics. This allows much quicker treatment of an infection and reduces the number of times a dressing has to be changed.

A welcome idea in the early study stages is the elimination of bacterial infections in a patient within minutes, instead of delivering treatment with antibiotics over a period of weeks. You can read about design analysis for the antimicrobial nanorobot used in such treatments in the following article: Microbivores: Artifical Mechanical Phagocytes using Digest and Discharge Protocol.

Nanotechnology in Medicine Application: Cell Repair

Nanorobots could actually be programmed to repair specific diseased cells, functioning in a similar way to antibodies in our natural healing processes.  Read about design analysis for one such cell repair nanorobot in this article: The Ideal Gene Delivery Vector: Chromallocytes, Cell Repair Nanorobots for Chromosome Repair Therapy

Nanotechnology in Medicine: Company Directory

Company Product
CytImmune Gold nanoparticles for targeted delivery of drugs to tumors
NanoBio Nanoemulsions for nasal delivery to fight viruses (such as the flu and colds) or through the skin to fight bacteria

More nanomedicine companies

Nanotechnology in Medicine: Resources

National Cancer Institute Alliance for Nanotechnology in Cancer; This alliance includes aNanotechnology Characterization Lab as well as eight Centers of  Cancer Nanotechnology Excellence.

Alliance for NanoHealth; This alliance includes eight research institutions performing collaborative research.

European Nanomedicine platform

The National Institute of Health (NIH) is funding research at eight Nanomedicine Development Centers.

Page 2: Nanomedicine based upon nano-robots

Compiled by Earl Boysen of Hawk’s Perch Technical Writing, LLC and UnderstandingNano.com.

Future impact of nanotechnology on medicine and dentistry

Mallanagouda Patil,1 Dhoom Singh Mehta,2 and Sowjanya Guvva3

J Indian Soc Periodontol. 2008 May-Aug; 12(2): 34–40.

doi:  10.4103/0972-124X.44088  PMCID: PMC2813556

The human characteristics of curiosity, wonder, and ingenuity are as old as mankind. People around the world have been harnessing their curiosity into inquiry and the process of scientific methodology. Recent years have witnessed an unprecedented growth in research in the area of nanoscience. There is increasing optimism that nanotechnology applied to medicine and dentistry will bring significant advances in the diagnosis, treatment, and prevention of disease. Growing interest in the future medical applications of nanotechnology is leading to the emergence of a new field called nanomedicine. Nanomedicine needs to overcome the challenges for its application, to improve the understanding of pathophysiologic basis of disease, bring more sophisticated diagnostic opportunities, and yield more effective therapies and preventive properties. When doctors gain access to medical robots, they will be able to quickly cure most known diseases that hobble and kill people today, to rapidly repair most physical injuries our bodies can suffer, and to vastly extend the human health span. Molecular technology is destined to become the core technology underlying all of 21st century medicine and dentistry. In this article, we have made an attempt to have an early glimpse on future impact of nanotechnology in medicine and dentistry.

Keywords: Nanodentistry, nanomedicine, nanoscience, nanotechnology

INTRODUCTION

The world began without man, and it will complete itself without him. …Cloude Levi Strauss. Winfred Phillips, DSc, said, “You have to be able to fabricate things, you have to be able to analyze things, you have to be able to handle things smaller than ever imagined in ways not done before”.[1] Many researchers believed that in future, scientific devices that are dwarfed by dust mites may one day be capable of grand biomedical miracles.

The vision of nanotechnology introduced in 1959 by late Nobel Physicist Richard P Faynman in dinner talk said, “There is plenty of room at the bottom,”[2] proposed employing machine tools to make smaller machine tools, these are to be used in turn to make still smaller machine tools, and so on all the way down to the atomic level, noting that this is “a development which I think cannot be avoided”. He suggested nanomachines, nanorobots, and nanodevices ultimately could be used to develop a wide range of automically precise microscopic instrumentation and manufacturing tools, could be applied to produce a vast quantities of ultrasmall computers and various nanoscale microscale robots.

Feynman’s idea remained largely undiscussed until the mid-1980s, when the MIT educated engineer K Eric Drexler published “Engines of Creation”, a book to popularize the potential of molecular nanotechnology.[3]

Nano comes from the Greek word for dwarf, usually nanotechnology is defined as the research and development of materials, devices, and systems exhibiting physical, chemical, and biological properties that are different from those found on a larger scale (matter smaller than scale of things like molecules and viruses).[4]

Old rules don’t apply, small things behave differently. Researchers in nanoland are also making really, really small things with astonishing properties like the carbon nanotube. Chris Papadopoulos, a nanotechnology researcher says, “The carbon nanotube is the poster boy for nanotechnology”. It’s is a very thin sheet of graphite that’s formed into a tube, its strength can be harnessed by embedding them in constructive materials, among other applications, nanotubes may be part of future improvements for high-performance air craft.

In nanoland, tiny differences in size can add up to huge differences in function. Ted Sergent, author of The dance of Molecules, says matter is tunable at nanoscale. For example, change the length of a guitar string and you change the sound it makes; change the size of semiconductors called quantum dots, and you change their rainbow of colors from a single material. Sergent made a three-nanometric dot that ‘glows’ blue, and four nanometer dot that glows red and a five nanometer dot that emits infrared rays or heat.

Nanotechnology will affect everything, says William Atkinson, author of Nanoscom. Nanotechnology and the big changes coming from the inconceivably small. It’ll be like a blizzard; snowflakes whose weight you can’t detect can bring a city to a standstill. Nanotechnology is going to be like that.

The unique quantum phenomena that happen at the nanoscale, draw researchers from many different disciplines to the field, including medicine, chemistry, physics, engineering, and others (dentistry).

The scientists in the field of regenerative medicine and tissue engineering are continually looking for new ways to apply the principles of cell transplantation, material science, and bioengineering to construct biological substitutes that will restore and maintain normal function in diseased and injured tissue. Development of more refined means of delivering medications at therapeutic levels to specific sites is an important clinical issue, for applications of such technology in medicine, and dentistry.[5]

Nanomedicine

The field of “Nanomedicine” is the science and technology of diagnosing, treating, and preventing disease and traumatic injury, of relieving pain, and of preserving and improving human health, using nanoscale structured materials, biotechnology, and genetic engineering, and eventually complex machine systems and nonorobots.[5] It was perceived as embracing five main subdisciplines that in many ways are overlapping by common technical issues [Figure 1].

Figure 1

Dimensions in Nanomedicine

Nanodiagnostics

It is the use of nanodevices for the early disease identification or predisposition at cellular and molecular level. In in-vitro diagnostics, nanomedicine could increase the efficiency and reliability of the diagnostics using human fluids or tissues samples by using selective nanodevices, to make multiple analyses at subcellular scale, etc. In in vivo diagnostics, nanomedicine could develop devices able to work inside the human body in order to identify the early presence of a disease, to identify and quantify toxic molecules, tumor cells.

Regenerative medicine

It is an emerging multidisciplinary field to look for the reparation, improvement, and maintenance of cells, tissues, and organs by applying cell therapy and tissue engineering methods. With the help of nanotechnology it is possible to interact with cell components, to manipulate the cell proliferation and differentiation, and the production and organization of extracellular matrices.

Present day nanomedicine exploits carefully structured nanoparticles such as dendrimers, carbon fullerenes (buckyballs), and nanoshells to target specific tissues and organs. These nanoparticles may serve as diagnostic and therapeutic antiviral, antitumor, or anticancer agents. Years ahead, complex nanodevices and even nanorobots will be fabricated, first of biological materials but later using more durable materials such as diamond to achieve the most powerful results.[6]

The human body is comprised of molecules, hence the availablity of molecular nanotechnology will permit dramatic progress to address medical problems and will use molecular knowledge to maintain and improve human health at the molecular scale.

Applications in medicine

Within 10–20 years it should become possible to construct machines on the micrometer scale made up of parts on the nanometer scale. Subassemblies of such devices may include such as useful robotic components as 100 nm manipulater arms, 10 nm sorting rotors for molecule by molecule reagent purification, and smooth super hard surfaces made of automically flawless diamond.

Nanocomputers would assume the important task of activating, controlling, and deactivating such nanomechanical devices. Nanocomputers would store and execute mission plans, receive and process external signals and stimuli, communicate with other nanocomputers or external control and monitoring devices, and possess contextual knowledge to ensure safe functioning of the nanomechanical devices. Such technology has enormous medical and dental implications.

Programmable nanorobotic devices would allow physicians to perform precise interventions at the cellular and molecular level. Medical nanorobots have been proposed for genotological[7] applicatons in pharmaceuticals research,[8] clinical diagnosis, and in dentistry,[9] and also mechanically reversing atherosclerosis, improving respiratory capacity, enabling near-instantaneous homeostasis, supplementing immune system, rewriting or replacing DNA sequences in cells, repairing brain damage, and resolving gross cellular insults whether caused by irreversible process or by cryogenic storage of biological tissues.

Feynman offered the first known proposal for a nanorobotic surgical procedure to cure heart disease,[2] “A friend of mine (Albert R. Hibbs) suggests a very interesting possibility for relatively small machines. He says that, although it is a very wild idea, it would be interesting in surgery if you could swallow the surgeon. You put the mechanical surgeon inside the blood vessel and it goes into the heart and looks around. It finds out which valve is the faulty and takes a little knife and slices it out, that we can manufacture an object that maneuvers at that level, other small machines might be permanently incorporated in the body to assist some inadequately functioning organs”.[2]

Many disease causing culprits such as bacteria and viruses are nanosize. So, it only makes sense that nanotechnology would offer us ways of fighting back. The ancient greeks used silver to promote healing and prevent infection, but the treatment took backseat when antibiotics came on the scene. Nycryst pharmaceuticals (Canada) revived and improved an old cure by coating a burn and wound bandage with nanosize silver particles that are more reactive than the bulk form of metal. They penetrate into skin and work steadily. As a result, burn victims can have their dressings changed just once a week.

Genomics and protomics research is already rapidly elucidating the molecular basis of many diseases. This has brought new opportunities to develop powerful diagnostic tools able to identify genetic predisposition to diseases. In the future, point of care diagnosis will be routinely used to identify those patients requiring preventive medication to select the most appropriate medication for individual patients, and to monitor response to treatment. Nanotechnology has a vital role to play in realizing cost-effective diagnostic tools.

Chris Backous developing Lab–on-Chip to give doctor immediate results from medical tests for cancer and viruses, it gets its information by analyzing the genetic material in individual cells. Advances in gene sequencing mean this can now be done quickly and sequencing with tiny samples of body fluids or tissues such as blood, bone marrow, or tumors. The device can also detect the BK virus, a sign of trouble in patients who have had kidney transplants. Ultimately (Pilarski thinks,) chip technology will be able to detect what kind of flu a person has, or, even if they have SARS or HIV.

Nanotechnology has the potential to offer invaluable advances such as use of nanocoatings to slow the release of asthma medication in the lungs, allowing people with asthma to experience longer periods of relief from symptoms after using inhalants. Thus, what nanotechnology tries to do is essentially make drug particles in such a way, that they don’t dissolve that fast, done this with.

Nanosensors developed for military use in recognizing airborne rogue agents and chemical weapons to detect drugs and other substances in exhaled breath.[1] Basically, you can detect many drugs in breath, but the amount you detect in breath is going to be related to the amount that you take and also to whether it partitions well between the blood and the breath. Drug abuse like marijuna (and things like), concentration of alcohol, testing of athletes for banned substances, and individual’s drug treatment programs are two areas long overdue for breath detection technologies. We see this in future totally replacing urine testing.

Currently, most legal and illegal drug overdoses have no specific way to be effectively neutralized, using nanoparticles as absorbents of toxic drugs, is another area of medical nanoscience that is rapidly gaining momentum. Goal is design nanostructures that effectively bind molecular entities, which currently don’t have effective treatments. We are putting nanosponges into the blood stream and they are soaking up toxic drug molecules to reduce the free amount in the blood, in turn, causes a resolution of the toxicity that was there before you put the nanosponges into the blood.

French and Italian researchers have come up with a completely new approach to render anticancer and antiviral nucleoside analoges significantly more potent. By linking the nucleoside analoges to sequalene, a biochemical precursor to the whole family of steroids, the researchers observed the self-organization of amphiphilic molecules in water. These nanoassemblies exhibited superior anticancer activity in vitro in human cancer cells.

Laurie B Gower, PhD, has been researching bone formation and structure at the nanoscale level. She is examining biomimetic methods of constructing a synthetic bone graft substitute with a nanostructured architecture that matches natural bone so that it would be accepted by the body and guide the cells toward the mending of damaged bones. Biomineralization refers to minerals that are formed biologically, which have very different properties than geological minerals or lab-formed crystals. The crystal properties found in bone are manipulated at nanoscale and are imbedded within collagen fibers to create an interpenetrating organic–inorganic composite with unique mechanical properties. She foresees numerous implications of the material in the future of osteology.

Hichan Fenniri, a chemistry professor, tried to make artificial joints act more like natural ones. Fenniri has made a nanotube coating for titanium hip or knee, is very good mimic of collagen, as a result of coating attracts and attaches more bone cells, osteoblasts, which help in bone growth quickly than uncoated hip or knee.

There is ongoing attempts to build ‘medical microrobots’ for in vivo medical use.[10] In 2002, Ishiyama et al,[11] at Tohku University developed tiny magnetically driven spinning screws intended to swim along veins and carry drugs to infected tissues or even to burrow into tumors and kill them with heat. In 2005, Brad Nelson’s[12] team reported the fabrication of a microscopic robot, small enough (approximately 200 µm) to be injected into the body through a syringe. They hope that this device or its descendants might someday be used to deliver drugs or perform minimally invasive eye surgery. Gorden’s[9,13] group at the University of Manitoba has also proposed magnetically controlled ‘cytobots’ and ‘karyobots’ for performing wireless intracellular and intranuclear surgery.

‘Respirocytes’, the first theoreotical design study of a complete medical nanorobot ever published in peer-reviewed journal described a hypothetical artificial mechanical red blood cell or ‘respirocyte’ made of 18 billion precisely arranged structural atoms.[10,14] The respirocyte is a bloodborne spherical 1 µm diamondedoid 1000 atmosphere pressure vessel with reversible molecule selective surface pumps powered by endogenous serum glucose. This nanorobot would deliver 236 times more oxygen to body tissues per unit volume than natural red cells and would manage carbonic acidity, controlled by gas concentration sensors and an onboard nanocomputer.

Nanorobotic microbivores

Artificial phagocytes called microbivores could patrol the bloodstream, seeking out and digesting unwanted pathogens including bacteria, viruses, or fungi.[10,15] Microbivores would achieve complete clearance of even the most severe septicemic infections in hours or less. The nanorobots do not increase the risk of sepsis or septic shock because the pathogens are completely digested into harmless sugars, amino acids, and the like, which are the only effluents from the nanorobot.

Surgical nanorobotics

A surgical nanorobot, programmed or guided by a human surgeon, could act as a semiautonomous on site surgeon inside the human body, when introduced into the body through vascular system or cavities. Such a device could perform various functions such as searching for pathology and then diagnosing and correcting lesions by nanomanipulation, coordinated by an onboard computer while maintaining contact with the supervising surgeon via coded ultrasound signals.[10]

The earliest forms of cellular nanosurgery are already being explored today. For example, rapidly vibrating (100 Hz) micropipette with a <1 µm tip diameter has been used to completely cut dentrites from single neurons without damaging cell viability.[16] Axotomy of roundworm neurons was performed by femtosecond laser surgery, after which the axons functionally regenerated.[17] Femtolaser acts like a pair of nanoscissors by vaporizing tissue locally while leaving adjacent tissue unharmed. Femtolaser surgery has performed the individual chromosomes.[18]

Nanogenerators’

They could make new class of self-powered implantable medical devices, sensors, and portable electronics, by converting mechanical energy from body movement, muscle stretching, or water flow into electricity.

Nanogenerators produce electric current by bending and then releasing zinc oxide nanowires, which are both piezoelectric and semiconducting. Nanowires can be grown on polymer-based films, use of flexible polymer substrates could one day allow portable devices to be powered by movement of their users.

“Our bodies are good at converting chemical energy from glucose into the mechanical energy of our muscles,” Wang (faculty at Peking University and National Center for Nanoscience and Technology of China) explained “these nanogenerators can take mechanical energy and convert it to electrical energy for powering devices inside the body. This could open up tremendous possibilities for self-powered implantable medical devices.”

Nanodentistry

Nanodentistry will make possible the maintenance of comprehensive oral health by employing nanomaterials, biotechnology, including tissue engineering, and ultimately, dental nanorobotics. New potential treatment opportunities in dentistry may include, local anesthesia, dentition renaturalization, permanent hypersensitivity cure, complete orthodontic realignments during a single office visit, covalently bonded diamondised enamel, and continuous oral health maintenance using mechanical dentifrobots.

When the first micro-size dental nanorobots can be constructed, dental nanorobots might use specific motility mechanisms to crawl or swim through human tissue with navigational precision, acquire energy, sense, and manipulate their surroundings, achieve safe cytopenetration and use any of the multitude techniques to monitor, interrupt, or alter nerve impulse traffic in individual nerve cells in real time.

These nanorobot functions may be controlled by an onboard nanocomputer that executes preprogrammed instructions in response to local sensor stimuli. Alternatively, the dentist may issue strategic instructions by transmitting orders directly to in vivo nanorobots via acoustic signals or other means.

Inducing anesthesia

One of the most common procedure in dental practice, to make oral anesthesia, dental professionals will instill a colloidal suspension containing millions of active analgesic micron-sized dental nanorobot ‘particles’ on the patient’s gingivae. After contacting the surface of the crown or mucosa, the ambulating nanorobots reach the dentin by migrating into the gingival sulcus and passing painlessly through the lamina propria or the 1–3-micron thick layer of loose tissue at the cementodentinal junction. On reaching dentin, the nanorobots enter dentinal tubules holes that are 1–4 microns in diameter and proceed toward the pulp, guided by a combination of chemical gradients, temperature differentials, and even positional navigation, all under the control of the onboard nanocomputer as directed by the dentist.[9]

There are many pathways to choose from, near to CEJ, midway between junction and pulp, and near to pulp. Tubules diameter increases as it nears the pulp, which may facilitate nanorobot movement, although circumpulpal tubule openings vary in numbers and size (tubules number density 22,000 mm DEJ, 37,000 mm square midway, ans 48000 mm square near to pulp). Tubules branching patterns, between primary and irregular secondary dentin, regular secondary dentin in young and old teeth (sclerosing) may present a significant challenge to navigation.

The presence of natural cells that are constantly in motion around and inside the teeth including human gingival and pulpal fibroblasts, cementoblasts of the CDJ, bacteria inside dentinal tubules, odontoblasts near the pulp dentin border, and lymphocytes within the pulp or lamina propria suggested that such journey should be feasible by cell-sized nanorobots of similar mobility.

Once installed in the pulp and having established control over nerve impulse traffic, the analgesic dental nanorobots may be commanded by the dentist to shut down all sensitivity in any particular tooth that requires treatment. When on the hand-held controller display, the selected tooth immediately becomes numb. After the oral procedures completed, the dentist orders the nanorobots to restore all sensation, to relinguish control of nerve traffic and to engress, followed by aspiration. Nanorobotic analgesics offer greater patient comfort and reduced anxiety, no needles, greater selectivity, and controllability of the analgesic effect, fast and completely reversible switchable action and avoidance of most side effects and complications.

Tooth repair

Nanorobotic manufacture and installation of a biologically autologous whole replacement tooth that includes both mineral and cellular components, that is, ‘complete dentition replacement therapy’ should become feasible within the time and economic constraints of a typical office visit through the use of an affordable desktop manufacturing facility, which would fabricate the new tooth in the dentist’s office.

Chen et al[19] took advantage of these latest developments in the area of nanotechnology to simulate the natural biomineralization process to create the hardest tissue in the human body, dental enamel, by using highly organized microarchitectural units of nanorod-like calcium hydroxyapatite crystals arranged roughly parallel to each other.

Dentin hypersensitivity

Natural hypersensitive teeth have eight times higher surface density of dentinal tubules and diameter with twice as large than nonsensitive teeth. Reconstructive dental nanorobots, using native biological materials, could selectively and precisely occlude specific tubules within minutes, offering patients a quick and permanent cure.[9]

Tooth repositioning

Orthodontic nanorobots could directly manipulate the periodontal tissues, allowing rapid and painless tooth straightening, rotating and vertical repositioning within minutes to hours.

Tooth renaturalization

This procedure may become popular, providing perfect treatment methods for esthetic dentistry. This trend may begin with patients who desire to have their (1) old dental amalgams excavated and their teeth remanufactured with native biological materials, and (2) full coronal renaturalization procedures in which all fillings, crowns, and other 20th century modifications to the visible dentition are removed with the affected teeth remanufactured to become indistinguishable from original teeth.

Dental durability and cosmetics

Durability and appearance of tooth may be improved by replacing upper enamel layers with covalently bonded artificial materials such as sapphire or diamond,[20] which have 20–100 times the hardness and failure strength of natural enamel or contemporary ceramic veneers and good biocompatibility. Pure sapphire and diamond are brittle and prone to fracture, can be made more fracture resistant as part of a nanostructured composite material that possibly includes embedded carbon nanotubes.

Nanorobotic dentifrice (dentifrobots) delivered by mouthwash or toothpaste could patrol all supragingival and subgingival surfaces at least once a day metabolizing trapped organic mater into harmless and odorless vapors and performing continous calculus debridement.

Properly configured dentifrobots could identify and destroy pathogenic bacteria residing in the plaque and elsewhere, while allowing the 500 species of harmless oral microflora to flourish in a healthy ecosystem. Dentifrobots also would provide a continous barriers to halitosis, since bacterial putrification is the central metabolic process involved in oral malodor. With this kind of daily dental care available from an early age, conventional tooth decay and gingival deseases will disappear into the annals of medical history.

Potential benefits of nanotechnology are its ability to exploit the atomic or molecular properties of materials and the development of newer materials with better properties. Nanoproducts can be made by: building-up particles by combining atomic elements and using equipments to create mechanical nanoscale objects.

Nanotechnology has improved the properties of various kinds of fibers.[21] Polymer nanofibers with diameters in the nanometer range, possess a larger surface area per unit mass and permit an easier addition of surface functionalities compared to polymer microfibers.[21,22] Polymer nanofiber materials have been studied as drug delivery systems, scaffolds for tissue engineering and filters. Carbon fibers with nanometer diamensions showed a selective increase in osteoblast adhesion necessary for successful orthopedic/dental implant applications due to a high degree of nanometer surface roughness.[23]

Nonagglomerated discrete nanoparticles are homogenously manufactured in resins or coatings to produce nanocomposites. The nanofiller used include an aluminosilicate powder having a mean particles size of about 80 nm and 1:4 M ratio of alumina to silica. Advantages – superior hardness, flexible strength, modulus of elasticity, translucency and esthetic appeal, excellent color density, high polish, and polish retention, and excellent handling properties.[24] (Filtek O supreme Univrasl Restorative Pure Nano O).

Heliometer, microfilled composite resin, a close examination of this composite suggests that a form of nanotechnology was in use years ago, yet never recognized.

Nanosolutions produce unique and dispersible nanoparticles that can be added to various solvents, paints, and polymers in which they are dispersed homogenously. Nanotechnology in bonding agents ensures homogeneity and so the operator can now be totally confident that the adhesive is perfectly mixed every time.

Nanofillers are integrated in the vinylsiloxanes, producing a unique addition siloxane impression material. Better flow, improved hydrophilic properties, hence fewer voids at margin and better model pouring, enhanced detail precision.[25]

DISCUSSION

Nanotechnology is part of a predicted future in which dentistry and periodontal practice may become more high-tech and more effective looking to manage individual dental health on a microscopic level by enabling us to battle decay where it begins with bacteria. Construction of a comprehensive research facility is crucial to meet the rigorous requirements for the development of nanotechnologies.

Researchers are looking at ways to use microscopic entities to perform tasks that are now done by hand or with equipment. This concept is known as nanotechnology. Tiny machines, known as nanoassemblers, could be controlled by computer to perform specialized jobs. The nanoassemblers could be smaller than a cell nucleus so that they could fit into places that are hard to reach by hand or with other technology. Used to destroy bacteria in the mouth that cause dental caries or even repair spots on the teeth where decay has set in, by use of computer to direct these tiny workers in their tasks.

Nanotechnology has tremendous potential, but social issues of public acceptance, ethics, regulation, and human safety must be addressed before molecular nanotechnology can be seen as the possibility of providing high quality dental care to the 80% of the world’s population that currently receives no significant dental care.

Role of periodontitis will continue to evolve along the lines of currently visible trends. For example, simple self-care neglect will become fewer, while cases involving cosmetic procedures, acute trauma, or rare disease conditions will become relatively more commonplace.

Trends in oral health and disease also may change the focus on specific diagnostic and treatment modalities. Increasingly preventive approaches will reduce the need for cure prevention a viable approach for the most of them.

Diagnosis and treatment will be customized to match the preferences and genetics of each patient. Treatment options will become more numerous and exciting. All this will demand, even more so than today, the best technical abilities, professional skills that are the hallmark of the contemporary dentist and periodontist. Developments are expected to accelerate significantly.

Nanometers and nanotubes, technologies could be used to administer drugs more precisely. Technology should be able to target specific cells in a patient suffering from cancer or other life-threatening conditions. Toxic drugs used to fight these illnessess would become much more direct and consequently less harmful to the body.

CONCLUSION

The visions described in this article may sound unlikely, implausible, or even heretic. Yet, the theoretical and applied research to turn them into reality is progressing rapidly. Nanotechnology will change dentistry, healthcare, and human life more profoundly than many developments of the past. As with all technologies, nanotechnology carries a significant potential for misuse and abuse on a scale and scope never seen before. However, they also have potential to bring about significant benefits, such as improved health, better use of natural resources, and reduced environmental pollution. These truly are the days of miracle and wonder.

Current work is focused on the recent developments, particularly of nanoparticles and nanotubes for periodontal management, the materials developed from such as the hollow nanospheres, core shell structures, nanocomposites, nanoporous materials, and nanomembranes will play a growing role in materials development for the dental industry.

Once nanomechanics are available, the ultimate dream of every healer, medicine man and physician throughout recorded history will, at last become a reality. Programmable and controllable microscale robots comprised of nanoscale parts fabricated to nanometer precision will allow medical doctors to execute curative and reconstructive procedures in the human body at the cellular and molecular levels. Nanomedical physicians of the 21st century will still make good use of the body’s natural healing powers and homeostatic mechanisms, because all else equal, those interventions are best that intervene least.

Footnotes

Source of Support: Nil

Conflict of Interest: None declared.

REFERENCES

  1. Rocco Castoro. U F expects big things from the science of small, nanotechnology. Think Small. The POST 02-2005.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2813556/?report=reader

The MIT-Harvard Center for Cancer Nanotechnology Excellence is a collaborative effort among MIT, Harvard University, Harvard Medical School, Massachusetts General Hospital, and Brigham and Women’s Hospital. It is one of eight Centers of Cancer Nanotechnology Excellence awarded by The National Cancer Institute (NCI), part of the National Institutes of Health (NIH). It focuses on developing a diversified portfolio of nanoscale devices for targeted delivery of cancer therapies, diagnostics, non-invasive imaging, and molecular sensing. In addition to general oncology applications, the Consortium focuses on prostate, brain, lung, ovarian, and colon cancer.

Examples of projects that the Consortium is undertaking include the development of:

  • Targeted nanoparticles for treating prostate cancer
  • Polymer nanoparticles and quantum dots for siRNA delivery
  • Next-generation magnetic nanoparticles for multimodal, non-invasive tumor imaging
  • Implantable, biodegradable microelectromechanical systems (MEMS), also known as lab-on-a-chip devices, for in vivo molecular sensing of tumor-associated biomolecules
  • Low-toxicity nanocrystal quantum dots for biomedical sensing

In addition to drawing on the scientific and technological expertise of its investigators, the Consortium uses available facilities for toxicology testing and the extensive mouse models of cancer collection at the collaborating institutions.

  1.  Nanotechnology and CancerNanotechnology is one of the most popular areas of scientific research, especially with regard to medical applications. We’ve already discussed some of the new detection methods that should bring about cheaper, faster and less invasive cancer diagnoses. But once the diagnosis occurs, there’s still the prospect of surgery, chemotherapy or radiation treatment to destroy the cancer. Unfortunately, these treatments can carry serious side effects. Chemotherapy can cause a variety of ailments, including hair loss, digestive problems, nausea, lack of energy and mouth ulcers.But nanotechnologists think they have an answer for treatment as well, and it comes in the form o ftargeted drug therapies. If scientists can load their cancer-detecting gold nanoparticles with anticancer drugs, they could attack the cancer exactly where it lives. Such a treatment means fewer side effects and less medication used. Nanoparticles also carry the potential for targeted and time-release drugs. A potent dose of drugs could be delivered to a specific area but engineered to release over a planned period to ensure maximum effectiveness and the patient’s safety.These treatments aim to take advantage of the power of nanotechnology and the voracious tendencies of cancer cells, which feast on everything in sight, including drug-laden nanoparticles. One experiment of this type used modified bacteria cells that were 20 percent the size of normal cells. These cells were equipped with antibodies that latched onto cancer cells before releasing the anticancer drugs they contained.Another used nanoparticles as a companion to other treatments. These particles were sucked up by cancer cells and the cells were then heated with a magnetic field to weaken them. The weakened cancer cells were then much more susceptible to chemotherapy.It may sound odd, but the dye in your blue jeans or your ballpoint pen has also been paired with gold nanoparticles to fight cancer. This dye, known as phthalocyanine, reacts with light. The nanoparticles take the dye directly to cancer cells while normal cells reject the dye. Once the particles are inside, scientists “activate” them with light to destroy the cancer. Similar therapies have existed to treat skin cancers with light-activated dye, but scientists are now working to use nanoparticles and dye to treat tumors deep in the body.From manufacturing to medicine to many types of scientific research, nanoparticles are now rather common, but some scientists have voiced concerns about their negative health effects. Nanoparticles’ small size allows them to infiltrate almost anywhere. That’s great for cancer treatment but potentially harmful to healthy cells and DNA. There are also questions about how to dispose of nanoparticles used in manufacturing or other processes. Special disposal techniques are needed to prevent harmful particles from ending up in the water supply or in the general environment, where they’d be impossible to track.Gold nanoparticles are a popular choice for medical research, diagnostic testing and cancer treatment, but there are numerous types of nanoparticles in use and in development. Bill Hammack, a professor of chemical engineering at the University of Illinois, warned that nanoparticles are “technologically sweet” [Source: Marketplace]. In other words, scientists are so wrapped up in what they can do, they’re not asking if they should do it. The Food and Drug Administration has a task force on nanotechnology, but as of yet, the government has exerted little oversight or regulation.
  2. The U.S. Food and Drug Administration (FDA)regulates a wide range of products, including foods, cosmetics, drugs, devices, veterinary products, and tobacco products some of which may utilize nanotechnology or contain nanomaterials. Nanotechnology allows scientists to create, explore, and manipulate materials measured in nanometers (billionths of a meter).  Such materials can have chemical, physical, and biological properties that differ from those of their larger counterparts.Guidance documents issued
    • On June 24, 2014, FDA issued three final guidance documentsrelated to the use of nanotechnology in regulated products,incuding cosmetics and food substances.
    • On August 5, 2015, FDA issued one final guidance documentrelated to the use of nanotechnology in food for animals.
      • FDA Guidance on Nanotechnology
        1. Nanotechnology Fact Sheet
        2. FDA issues three final guidances related to nanotechnology applications in regulated products, including cosmetics and food substances (June 2014)
        3. FDA issues final guidance on the use of nanotechnology in food for animals (August 2015)
        4. Nanotechnology in TherapeuticsA Focus on Nanoparticles as a Drug Delivery SystemSuwussa Bamrungsap; Zilong Zhao; Tao Chen; Lin Wang; Chunmei Li; Ting Fu; Weihong TanDisclosuresNanomedicine. 2012;7(8):1253-1271.AbstractContinuing improvement in the pharmacological and therapeutic properties of drugs is driving the revolution in novel drug delivery systems. In fact, a wide spectrum of therapeutic nanocarriers has been extensively investigated to address this emerging need. Accordingly, this article will review recent developments in the use of nanoparticles as drug delivery systems to treat a wide variety of diseases. Finally, we will introduce challenges and future nanotechnology strategies to overcome limitations in this field.IntroductionNanotechnology involves the engineering of functional systems at the molecular scale. Such systems are characterized by unique physical, optical and electronic features that are attractive for disciplines ranging from materials science to biomedicine. One of the most active research areas of nanotechnology is nanomedicine, which applies nanotechnology to highly specific medical interventions for the prevention, diagnosis and treatment of diseases.[1,2,401] The surge in nanomedicine research during the past few decades is now translating into considerable commercialization efforts around the globe, with many products on the market and a growing number in the pipeline. Currently, nanomedicine is dominated by drug delivery systems, accounting for more than 75% of total sales.[3]

          Nanomaterials fall into a size range similar to proteins and other macromolecular structures found inside living cells. As such, nanomaterials are poised to take advantage of existing cellular machinery to facilitate the delivery of drugs. Nanoparticles (NPs) containing encapsulated, dispersed, absorbed or conjugated drugs have unique characteristics that can lead to enhanced performance in a variety of dosage forms. When formulated correctly, drug particles are resistant to settling and can have higher saturation solubility, rapid dissolution and enhanced adhesion to biological surfaces, thereby providing rapid onset of therapeutic action and improved bioavailability. In addition, the vast majority of molecules in a nanostructure reside at the particle surface,[4] which maximizes the loading and delivery of cargos, such as therapeutic drugs, proteins and polynucleotides, to targeted cells and tissues. Highly efficient drug delivery, based on nanomaterials, could potentially reduce the drug dose needed to achieve therapeutic benefit, which, in turn, would lower the cost and/or reduce the side effects associated with particular drugs. Furthermore, NP size and surface characteristics can be easily manipulated to achieve both passive and active drug targeting. Site-specific targeting can be achieved by attaching targeting ligands, such as antibodies or aptamers, to the surface of particles, or by using guidance in the form of magnetic NPs. NPs can also control and sustain release of a drug during transport to, or at, the site of localization, altering drug distribution and subsequent clearance of the drug in order to improve therapeutic efficacy and reduce side effects.

          Nanotechnology could be strategically implemented in new developing drug delivery systems that can expand drug markets. Such a plan would be applied to drugs selected for full-scale development based on their safety and efficacy data, but which fail to reach clinical development because of poor biopharmacological properties, for example, poor solubility or poor permeability across the intestinal epithelium, situations that translate into poor bioavailability and undesirable pharmacokinetic properties.[5] The new drug delivery methods are expected to enable pharmaceutical companies to reformulate existing drugs on the market, thereby extending the lifetime of products and enhancing the performance of drugs by increasing effectiveness, safety and patient adherence, and ultimately reducing healthcare costs.[6–8]

          Commercialization of nanotechnology in pharmaceutical and medical science has made great progress. Taking the USA alone as an example, at least 15 new pharmaceuticals approved since 1990 have utilized nanotechnology in their design and drug delivery systems. In each case, both product development and safety data reviews were conducted on a case-by-case basis, using the best available methods and procedures, with an understanding that postmarketing vigilance for safety issues would be ongoing. Some representative examples of therapeutic nanocarriers on the market are briefly described in Table 1.

          In this review, we focus mainly on the application of nanotechnology to drug delivery and highlight several areas of opportunity where current and emerging nanotechnologies could enable novel classes of therapeutics. We look at challenges and general trends in pharmaceutical nanotechnology, and we also explore nanotechnology strategies to overcome limitations in drug delivery. However, this article can only serve to provide a glimpse into this rapidly evolving field, both now and what may be expected in the future.

          Nanocarriers & Their Applications

          Various nanoforms have been attempted as drug delivery systems, varying from biological substances, such as albumin, gelatin and phospholipids for liposomes, to chemical substances, such as various polymers and solid metal-containing NPs (Figure 1). Polymer–drug conjugates, which have high size variation, are normally not considered as NPs. However, since their size can still be controlled within 100 nm, they are also included in these nanodelivery systems. These nanodelivery systems can be designed to have drugs absorbed or conjugated onto the particle surface, encapsulated inside the polymer/lipid or dissolved within the particle matrix. As a consequence, drugs can be protected from a critical environment or their unfavorable biopharmaceutical properties can be masked and replaced with the properties of nanomaterials. In addition, nanocarriers can be accumulated preferentially at tumor, inflammatory and infectious sites by virtue of the enhanced permeability and retention (EPR) effect. The EPR effect involves site-specific characteristics, not associated with normal tissues or organs, thus resulting in increased selective targeting. Based on those properties, nanodrug delivery systems offer many advantages,[9–11] including:

          (Enlarge Image)

          Figure 1.

          Some nanotechnology-based drug delivery platforms, including a nanocrystal, liposome, polymeric micelle, protein-based nanoparticle, dendrimer, carbon nanotube and polymer–drug conjugate.
          NP: Nanoparticle.

          • Improving the stability of hydrophobic drugs, rendering them suitable for administration;
          • Improving biodistribution and pharmacokinetics, resulting in improved efficacy;
          • Reducing adverse effects as a consequence of favored accumulation at target sites;
          • Decreasing toxicity by using biocompatible nanomaterials.

          By adopting nanotechnology, fundamental changes in drug production and delivery are expected to affect approximately half of the worldwide drug production in the next decade, totaling approximately US$380 billion in revenue.[12] Next, several main nanocarriers are briefly discussed.

          Nanocrystals

          One of the most obvious and important nanotechnology tools for product development is the opportunity to convert existing drugs with poor water solubility and dissolution rate into readily water-soluble dispersions by converting them into nanosized drugs.[13,14] In other words, the drug itself may be formulated at a nanoscale such that it can function as its own ‘carrier’.[15] Many approaches have been studied, but the most practical strategy involves reducing the drug particle size to nanometer range and stabilizing the drug NP surface with a layer of nonionic surfactants or polymeric macromolecules.[16] By reducing the particle size of the active pharmaceutical ingredient, the drug’s surface area is increased considerably, thereby improving its solubility and dissolution and consequently increasing both the maximum plasma concentration and area under the curve. Once the drug is nanosized, it can be formulated into various dosage forms, such as oral, nasal and injectable. These nanocrystal drugs may have advantages over association colloids (micelle solutions) because the level of surfactant per amount of drug can be greatly minimized, using only the amount that is necessary to stabilize the solid–fluid interface.[15]

          Furthermore, recent studies have shown that external agents, such as surfactants, for nanocrystal drug delivery can be eliminated. For example, a method was recently developed for the delivery of a hydrophobic photosensitizing anticancer drug in its pure form using nanocrystals.[17] Synthesized by the reprecipitation method, the resulting drug nanocrystals were stable in aqueous dispersion, without the necessity of any additional stabilizer. These nanocrystals are uniform in size distribution with an average diameter of 110 nm. Such nanocrystals were efficiently taken up by tumor cells in vitro, and irradiation of such cells with visible light (665 nm) resulted in significant cell death. An in vivo study of the nanocrystal drug also showed significant efficacy compared with the conventional surfactant-based delivery system. These results illustrate the potential of pure drug nanocrystals for photodynamic therapy. As shown in Table 1 , a number of well-known drugs have already been commercialized using the nanocrystal approach.

          Organic Nanoplatforms

          Liposomes Liposomes are self-assembled artificial vesicles developed from amphiphilic phospholipids. These vesicles consist of a spherical bilayer structure surrounding an aqueous core domain, and their size can vary from 50 nm to several micrometers. Liposomes have attractive biological properties, including general biocompatibility, biodegradability, isolation of drugs from the surrounding environment and the ability to entrap both hydrophilic and hydrophobic drugs. Through the addition of agents to the lipid membrane, or the alteration of the surface chemistry, liposome properties, such as size, surface charge and functionality, can be easily tuned.

          Liposomes are the most clinically established nanosystems for drug delivery. Their efficacy has been demonstrated in reducing systemic effects and toxicity, as well as in attenuating drug clearance.[18,19]Modified liposomes at the nanoscale have been shown to have excellent pharmacokinetic profiles for the delivery of DNA, antisense oligonucleotide, siRNA, proteins and chemotherapeutic agents.[20]Examples of marketed liposomal drugs with higher efficacy and lower toxicity than their nonliposomal analogues are listed in Table 1 . Doxorubicin is an anticancer drug that is widely used for the treatment of various types of tumors. It is a highly toxic compound affecting not only tumor tissue, but also heart and kidney, a fact that limits its therapeutic applications. However, the development of doxorubicin enclosed in liposomes culminated in an approved nanomedical drug delivery system.[21,22] This novel liposomal formulation has resulted in reduced delivery of doxorubicin to the heart and renal system, while elevating the accumulation in tumor tissue[23,24] by the EPR effect. Furthermore, a number of liposomal drugs are currently being investigated, including anticancer agents, such as camptothecin[25]and paclitaxel (PTX),[26] as well as antibiotics, such as vancomycin[27] and amikacin.[28]

          Liposomes are also subject to some limitations, including low encapsulation efficiency, fast burst release of drugs, poor storage stability and lack of tunable triggers for drug release.[29] Furthermore, since liposomes cannot usually permeate cells, drugs are released into the extracellular fluid.[30] As such, many efforts have focused on improving their stability and increasing circulation half-life for effective targeting or sustained drug action.[19,31] Surface modification is one method of conferring stability and structural integrity against a harsh bioenvironment after oral or parenteral administration.[32] Surface modification can be achieved by attaching polyethylene glycol (PEG) units, which form a protective layer over the liposome surface (known as stealth liposomes) to slow down liposome recognition, or by attaching other polymers, such as poly(methacrylic acid-co-cholesteryl methacrylate)[33] and poly(actylic acid),[34] to improve the circulation time of liposomes in blood. To overcome the fast burst release of the chemotherapeutic drugs from liposomes, drugs such as doxorubicin may be encapsulated in the liposomal aqueous phase by an ammonium sulphate gradient.[35] This strategy enables stable drug entrapment with negligible drug leakage during circulation, even after prolonged residence in the blood stream.[36] Further efforts to improve control over the rate of release and drug bioavailability have been made by designing liposomes whose release is environmentally triggered. Accordingly, the drug release from liposome-responsive polymers, or hydrogel, is triggered by a change in pH, temperature, radiofrequency or magnetic field.[37] Liposomes have also been conjugated with active-targeting ligands, such as antibodies[38–40] or folate, for target-specific drug delivery.[41]

          Polymeric NPs Polymeric NPs are colloidal particles with a size range of 10–1000 nm, and they can be spherical, branched or core–shell structures. They have been fabricated using biodegradable synthetic polymers, such as polylactide–polyglycolide copolymers, polyacrylates and polycaprolactones, or natural polymers, such as albumin, gelatin, alginate, collagen and chitosan.[42] Various methods, such as solvent evaporation, spontaneous emulsification, solvent diffusion, salting out/emulsification-diffusion, use of supercritical CO2 and polymerization, have been used to prepare the NPs.[43]Advances in polymer science and engineering have resulted in the development of smart polymer (stimuli-sensitive polymer), which can change its physicochemical properties in response to environmental signals. Physical (temperature, ultrasound, light, electricity and mechanical stress), chemical (pH and ionic strength) and biological signals (enzymes and biomolecules) have been used as triggering stimuli. Various monomers having sensitivity to specific stimuli can be tailored to a homopolymer in response to a certain signal or copolymers answering multiple stimuli. The versatility of polymer sources and their easy combination make it possible to tune up polymer sensitivity in response to a given stimulus within a narrow range, leading to more accurate and programmable drug delivery.

          Polymeric nanocarriers can be categorized based on three drug-incorporation mechanisms. The first includes polymeric carriers that use covalent chemistry for direct drug conjugation (e.g., linear polymers). The second group includes hydrophobic interactions between drugs and nanocarriers (e.g., polymeric micelles from amphiphilic block copolymers). Polymeric nanocarriers in the third group include hydrogels, which offer a water-filled depot for hydrophilic drug encapsulation.

          Polymer–Drug Conjugates (Prodrugs) Many polymer–drug conjugates have been developed since the first combination reported in the 1970s.[44,45] Conjugation of macromolecular polymers to drugs can significantly enhance the blood circulation time of the drugs. Especially, protein or peptide drugs, which can be readily digested inside the human body, can maintain their activity by conjugation of the water-soluble polymer PEG (PEGylation). For example, it was reported that PEGylated L-asparaginase increased its plasma half-life by up to 357 h.[46] Without PEG, the half-life of natural L-asparaginase is only 20 h. In addition to PEGylation of proteins, small molecular anticancer drugs can also be PEGylated to improve their pharmacokinetics for cancer therapy. For instance, PEG-camptothecin (PROTHECAN®) has entered clinical trials for cancer therapy.[47]

          Increasing the otherwise poor solubility of some drugs is another important function of polymer–drug conjugation. Specifically, conjugating water-soluble polymers to functional groups that already exist in the drug structure can significantly enhance the water solubility of the drug. Recently, a new category of polymer–drug conjugates called brush polymer–drug conjugates were prepared by ring-opening metathesis copolymerization.[48] In this report, as PEG was employed as the brush polymer side chains, the conjugates exhibited significant water solubility. However, polymer–drug conjugates require chemical modification of the existing drugs; as a consequence, their production could cost more, and additional purification steps are needed. Moreover, polymers that are chemically conjugated with drugs are often considered new chemical entities owing to a pharmacokinetic profile distinct from that of the parent drugs. As such, additional US FDA approval is required, even though the parent drug has already been approved. Despite the variety of novel drug targets and sophisticated chemistries available, only four drugs (doxorubicin, camptothecin, PTX and platinate) and four polymers (N-[2-hydroxylpropyl]methacrylamide [HPMA] copolymer, poly-L-glutamic acid [PGA], PEG and dextran) have been used to develop polymer–drug conjugates.[49–54] In addition to the commercially available polymer drugs listed in Table 1 , PGA-PTX (Xyotax™, CT-2103; Cell Therapeutics Inc./Chugai Pharmaceutical Co. Ltd.),[55] PGA-camptothecin (CT-2106; Cell Therapeutics Inc.)[56] and HPMA–doxorubicin (PK1/FCE-28068; Pfizer Inc./Cancer Research Campaign)[57] are now in clinical trials. As an example, PK1 has been evaluated in clinical trials as an anticancer agent, and a Phase I evaluation has been completed in patients with several types of tumors resistant to prior therapy, such as chemotherapy or radiation. However, although the clinical results for HPMA–doxorubicin conjugates look promising, PEG-based conjugation remains the gold-standard in the field of polymeric drug delivery. In addition, polymer–drug conjugates are still limited by their nonbiodegradability and the fate of polymers after in vivoadministration.[58]

          Polymeric Micelles Polymeric micelles are formed when amphiphilic surfactants or polymeric molecules spontaneously associate in aqueous medium to form core–shell structures. The inner core of a micelle, which is hydrophobic, is surrounded by a shell of hydrophilic polymers, such as PEG.[59] Their hydrophobic core serves as a reservoir for poorly water-soluble and amphiphilic drugs; at the same time, their hydrophilic shell stabilizes the core, prolongs circulation time in blood and increases accumulation in tumor tissues.[41] So far, a large variety of drug molecules have been incorporated into polymeric micelles, either by physical encapsulation[60,61] or covalent attachment.[62] Genexol-PM® (Samyang, Korea), PEG-poly(D,L-lactide)-PTX, employs cremophor-free polymeric micelles loaded with PTX drugs. It was found to have a three-times higher maximum tolerated dose in nude mice and two- to threefold higher levels of biodistribution, compared with those of pristine PTX, in various tissues, including tumors. A Phase I clinical trial has been evaluated in patients, and the results showed that Genexol-PM is superior to conventional PTX for the delivery of higher doses without additional toxicity.[63] Recently, a series of novel dual targeting micellar delivery systems were developed based on the self-assembled hyaluronic acid-octadecyl (HA-C18) copolymer and folic acid-conjugated HA-C18 (FA-HA-C18). PTX was successfully encapsulated by HA-C18 and FA-HA-C18 polymeric micelles, with a high encapsulation efficiency of 97.3%. Since these copolymers are biodegradable, biocompatible and cell-specifically targetable, they become promising nanostructure carriers for hydrophobic anticancer drugs.[64] In addition, stimuli-responsive drug-loaded micelles[65–69] and multifunctional polymeric micelles containing imaging as well as therapeutic agents[70–72] are now under active investigation with the potential to be the mainstream of the polymeric drug development in the near future. Furthermore, using computer simulation, the experimental preparation of drug-loaded polymeric micelles could be more efficiently guided, by providing insight into the mechanism of mesoscopic structures and serving as a complement to experiments.[73]

          Hydrogel NPs In recent years, hydrogel NPs have gained considerable attention as one of the most promising nanoparticulate drug delivery systems owing to their unique properties. Hydrogels are cross-linked networks of hydrophilic polymers that can absorb and retain more than 20% of their weight in water, while at the same time, maintaining the distinct 3D structure of the polymer network. Swelling properties, network structure, permeability or mechanical stability of hydrogels can be controlled by external stimuli or physiological parameters.[74–78] Hydrogels have been extensively studied for controlled release of therapeutics, stimuli-responsive release and applications in biological implants.[75,79–81] However, the hydration response to changes in stimuli in most hydrogel systems is too slow for therapeutic applications. To overcome this limitation, further development of hydrogel structures at the micro- and nano-scale is needed.[82] Recent reports showed some progress in micro- and nanogels of poly-N-isopropylacrylamide with ultrafast responses and attractive rheological properties.[83,84] Ding et al. demonstrated that cisplatin-loaded polyacrylic acid hydrogel NPs could be implanted and plastered on tumor tissue.[85] This hydrogel system exhibited superior efficacy in impeding tumor growth and prolonging lifespan in mice. The in vivo biodistribution assay also demonstrated that the hydrogel implant results in high concentration and retention of the drug. A multifunctional hybrid hydrogel was developed by combining the magnetic properties of NPs and the typical characteristics of the hydrogel. These hybrid hydrogels could be used to load a large number of drugs and transport them to the target site by the application of an external magnetic field.[86] To improve the specificity of the hydrogel drug delivery systems, core–shell nanogels were developed, which utilize aptamers as the recognition element and near-infrared light as a triggering stimulus for drug delivery. In this system, gold (Au)–silver nanorods, which possess intense absorption bands in the near-infrared range, were coated with DNA cross-linked polymeric shells, so that drugs can be rapidly and controllably released upon the near-infrared irradiation.[87] As the fate of hydrogel NPs after in vivo administration may be a concern for clinical applications, biodegradable hydrogel NPs with diameters of approximately 200 nm have been synthesized via inverse miniemulsion reversible addition–fragmentation chain-transfer polymerization of 2-(dimethylamino)ethyl methacrylate. A disulfide cross-linker was used to cross-link the NPs, so that the polymer network could be degraded to its constituent primary chains by exposure to a reductive environment. It is indicated that these biodegradable hydrogel NPs are currently being investigated for encapsulation and controlled release of siRNA.[88] Although hydrogel NPs-based drugs are not commercially available, they have high possibility to be further developed for drug delivery systems in the future, owing to their highly biocompatible and effective drug-loading properties.

          Protein-based NPs Hydrophobic drugs, such as taxanes, are highly active and widely used in a variety of solid tumor therapies. Both PTX and docetaxel, which are the commercially available taxanes for clinical treatments, are hydrophobic. Because of their solubility problems, they have been formulated as suspensions with nonionic surfactants, such as Cremophor EL® (BASF Corp.) for PTX and Tween-80 (ICI Americas, Inc.) for docetaxel. However, these surfactants are associated with hypersensitivity reaction and toxic side effects to tissues. To decrease toxicity, albumin conjugated with PTX has been formulated, yielding NPs approximately 130 nm in size and approved by the FDA for breast cancer treatment.[89–91] In addition to reduced toxicity, albumin–PTX has been found to bind with the albumin receptor (gp60) on endothelial cells, with further extravascular transport,[92–94] resulting in an increase in drug concentration at tumor sites without hypersensitivity reactions. The albumin–PTX complex is approved in 38 countries for the treatment of metastatic breast cancer. Furthermore, Abraxane® is currently in various stages of investigation for the treatment of other cancers, such as metastatic breast cancer, non-small-cell lung cancer, malignant melanoma, pancreatic and gastric cancer.

          Dendrimers Dendrimers are synthetic, branched macromolecules that form a tree-like structure. Unlike most linear polymers, the chemical composition and molecular weight of dendrimers can be precisely controlled; hence, it is relatively easy to predict their biocompatibility and pharmacokinetics.[95]Dendrimers are very uniform with extremely low polydispersities, and they are commonly created with dimensions incrementally grown in approximate nanometer steps from 1 to over 10 nm. Their globular structures and the presence of internal cavities enable drugs to be encapsulated within the macromolecule interior and are used to provide controlled release from the inner core.[96] Although the small size (up to 10 nm) of dendrimers limits extensive drug incorporation, their dendritic nature and branching allows drug loading onto the outside surface of the structure[97] via covalent binding or electrostatic interactions. Dendrimers can be synthesized by either divergent or convergent approaches. In the divergent approach, dendrimers are synthesized from the core and further built to other layers called generations. However, this method provides a low yield because the reactions that occur must be conducted on a single molecule processing a large number of equivalent reaction sites.[98] In addition, a large amount of reagents is required for the latter stages of synthesis, resulting in complication of purification. For the convergent method, synthesis begins at the periphery of the dendrimer molecules and stops at the core. In this approach, each synthesized generation can be subsequently purified.[98]

          Drug molecules associated with dendrimers can be utilized for cancer treatment,[99] the enhancement of drug solubility and permeability (dendrimer–drug conjugates)[100] and intracellular delivery.[101] Some drugs can be physically encapsulated inside the dendrimer network or form linkages (either covalently or noncovalently) on the dendrimer surface.[102] Furthermore, functionalization of the dendrimer surface with specific ligands can enhance potential targeting. For example, Myc et al. reported a polyamidoamine dendrimer conjugate containing FA as the targeting agent and methotroxate as the therapeutic agent.[103] Cytotoxicity and specificity were tested with both FA receptor-expressing and nonexpressing cells. Both in vitro and in vivo results showed that the dendrimer conjugate was preferentially cytotoxic to the target cells. The polyamido amine dendrimer conjugated with an anti-prostate specific membrane antigen antibody was also demonstrated.[104] The antibody–dendrimer conjugate specifically bound to anti-prostate specific membrane antigen-positive, but not negative, cell lines. However, dendrimer toxicity and immunogenicity are the main concerns when they are applied for drug delivery. Since the clinical experience with dendrimers has so far been limited, it is hard to tell whether the dendrimers are intrinsically ‘safe’ or ‘toxic’.

          Inorganic Platforms

          Au NPs Noble metal NPs, such as Au NPs, have emerged as a promising scaffold for drug and gene delivery in that they provide a useful complement to more traditional delivery vehicles. The combination of inertness and low toxicity,[105] easy synthesis, very large surface area, well-established surface functionalization (generally through thiol linkages) and tunable stability provide Au NPs with unique attributes to enable new delivery strategies. Moreover, excess loading of pharmaceuticals on NPs allows ‘drug reservoirs’ to accumulate for controlled and sustained release, thereby maintaining the drug level within the therapeutic window. An Au NP with 2-nm core diameter could, in principle, be conjugated with 100 molecules to available ligands (n = 108) in the monolayer.[106] Zubarev et al. have recently succeeded in coupling 70 PTX molecules, a chemotherapeutic drug, to an Au NP with a 2-nm core diameter.[107] Efficient release of these therapeutic agents could be triggered by internal (e.g., glutathione[108] or pH[109]) or external (e.g., light[110,111]) stimuli. In addition to serving as the carrier for drug delivery, Au NPs can also be imaged using contrast imaging techniques. Once the Au NPs are targeted to the diseased site, such as a tumor, hyperthermia treatment can be used for tumor destruction. For example, a recent study demonstrated that PEGylated Au NPs were employed for highly efficient drug delivery and in vivo photodynamic therapy of cancer.[112] Compared with conventional photodynamic therapy drug delivery in vivo, PEGylated Au NPs accelerated the silicon phthalocyanine 4 administration by approximately two orders of magnitude without side effects in treated mice. The key issue that needs to be addressed with Au NPs is the engineering of the particle surface for optimized properties, such as bioavailability and nonimmunogenicity.

          Superparamagnetic NPs Magnetic NPs have been proposed as drug carriers with a push towards clinical trials.[113] The superparamagnetic properties of iron (II) oxide particles can be used to guide microcapsules in place for delivery by external magnetic fields. Another advantage of using magnetic NPs is the ability to heat the particles after internalization, which is known as the hyperthermia effect. For example, Brazel et al. developed a grafted thermosensitive polymeric system by embedding FePt NPs in poly(N-isopropylacrylamide)-based hydrogels, which can be triggered to release the loaded drug by inducing an increase in temperature based on a magnetic thermal heating event.[114] The grafted hydrogel system is also shown to exhibit a desirable positive thermal response with an increased drug diffusion coefficient for temperatures higher than physiological temperature.[115]

          Besides being utilized for targeting and raising temperature, magnetic NPs can also affect the permeability of microcapsules by applying external oscillating magnetic fields and releasing encapsulated materials.[116] For example, ferromagnetic Au-coated cobalt NPs (3 nm in diameter) were incorporated into the polymer walls of microcapsules. Subsequently, application of external alternating magnetic fields of 100–300 Hz and 1200 Oe strength disturbed the capsule wall structures and dramatically increased their permeability to macromolecules. This work supports the hypothesis that magnetic NPs embedded in polyelectrolyte capsules can be used for the controlled release of substances by applying an external magnetic field.

          The main benefits of superparamagnetic NPs over classical cancer therapies are minimal invasiveness, accessibility of hidden tumors and minimal side effects. Conventional heating of a tissue by, for example, microwaves or laser light results in the destruction of healthy tissue surrounding the tumor. However, targeted paramagnetic particles provide a powerful strategy for localized heating of cancerous cells.

          Ceramic NPs Ceramic NPs are particles fabricated from inorganic compounds with porous characteristics, such as silica, alumina and titania.[117–119] Among these, silica NPs have attracted much research attention as a result of their biocompatibility and ease of synthesis, as well as surface modification.[120–122,301] Furthermore, the well-established silane chemistry facilitates the cross-linking of drugs to silica particles.[123,124] For example, recent breakthroughs in mesoporous silica NPs (MSNs) have brought new possibilities to this burgeoning area of research. MSNs contain hundreds of empty channels (mesopores) arranged in a 2D network of a honeycomb-like porous structure. In contrast to the low biocompatibility of other amorphous silica materials, recent studies have shown that MSNs exhibit superior biocompatibility at concentrations adequate for pharmacological applications.[125,126]Once the vehicle is localized in the cytoplasm, it is desirable to have effective control over the release of drug molecules in order to reach pharmacologically effective levels. The ability to selectively functionalize the external particle and/or the interior nanochannel surface of MSNs is advantageous in achieving this goal.[127,128] Different functional groups can be added by using this methodology, including, for example, functionalization with stimuli-responsive tethers that could be further attached to NPs (Au and iron [II] oxide). These NPs could work as gatekeepers and be removed by either intracellular or external triggers, such as changes in pH, reducing environment, enzymatic activity, light, electromagnetic field or ultrasound.[128] The surface of MSNs can be engineered with cell-specific moieties, such as organic molecules, peptides, aptamers and antibodies, to achieve cell type or tissue specificity. Moreover, optical and magnetic contrast agents can be introduced to develop multipurpose drug delivery systems.

          These strategies demonstrated that the application of target-specific MSN vehicles in vitro is promising; however, the application in vivo has not yet been reported. These particles are not biodegradable; consequently, there is a concern that they may accumulate in the human body and cause harmful effects.[117] For further in vivo applications, the biocompatibility, biodistribution, retention, degradation and clearance of MSNs must be systematically investigated.

          Carbon-based Nanomaterials Carbon-based nanomaterials have attracted particular interest because they can be surface functionalized for the grafting of nucleic acids, peptides and proteins. Carbon nanotubes (CNTs), fullerene, and nanodiamonds[129] have been extensively studied for drug delivery applications.[130] The size, geometry and surface characteristics of single-wall nanotubes (SWNTs), multiwall nanotubes and C60 fullerenes make them appealing for drug carrier usage. For example, PTX-conjugated SWNTs have shown promise for in vivo cancer treatment. SWNT delivery of PTX affords markedly improved treatment efficacy over clinical Taxol (Bristol-Myers Squibb Co.), as evidenced by its ability to slow down tumor growth at a low PTX dose.[131]

          However, the primary drawback of carbon-based nanomaterials appears to be their toxicity. Experiments have shown that CNTs can lead to cell proliferation inhibition and apoptosis. Although they are less toxic than carbon fibers and NPs, the toxicity of CNTs increases significantly when carbonyl, carboxyl and/or hydroxyl functional groups are present on their surface.[132] Because of the reported toxicity of CNTs,[133–137] studies involving their application for drug delivery are still being conducted.[138–140] In order to promote the application of CNTs for drug delivery, researchers have functionalized their surface, rendering them benign.[136] Unfortunately, concerns that functionalized CNTs may revert back to a toxic state if the functional group detaches has limited the pursuit of using these modified CNTs for biomedical applications.

          The toxicity of other forms of nanocarbons has also been reported.[132,140,141] One study of human lung tumor cells showed that carbon NPs are even more toxic than multiwall nanotubes and carbon nanofibers.[132] Given the mounting evidence demonstrating the toxicity of carbon NPs, the enthusiasm to develop carbon NPs for drug delivery has decreased significantly in recent years.

          Integrated Nanocomposite Particles

          A variety of nanoplatforms have been developed for a wide spectrum of applications, and each of these applications has unique advantages and limitations. By combining the specific function of each material, new hybrid nanocomposite materials can be fabricated. For instance, liposomes and polymeric NPs are the two most widely studied drug delivery platforms, and attempts have been made to combine the advantages of both systems. A recent study reported the use of nanocells consisting of nuclear poly(lactic-co-glycolic acid) NPs within an extranuclear PEGylated phospholipid envelope for temporal targeting of tumor cells and neovasculature.[142] Moreover, liposomes are routinely coated with a hydrophilic polymer, such as PEG or poly(ethylene oxide), to improve the circulation time in vivo, which is another example of a liposome–polymer composite.[143] Similarly, liposomal locked-in dendrimers, the combination of liposomes and dendrimers in one formulation, has resulted in higher drug loading and slower drug release from the composite, as compared with pure liposomes.[144] Another LipoMag formulation, which consists of an oleic acid-coated magnetic nanocrystal core and a cationic lipid shell, was magnetically guided to deliver and silence genes in cells and tumors in mice.[145]

          Targeting Strategies

          Two basic requirements should be realized in the design of nanocarriers to achieve effective drug delivery (Figure 2). First, drugs should be able to reach the desired tumor sites after administration with minimal loss to their volume and activity in blood circulation. Second, drugs should only kill tumor cells without harmful effects to healthy tissue.[146] These requirements may be enabled using two strategies: passive and active targeting of drugs.[147]

          (Enlarge Image)

          Figure 2.

          Passive and active targeting.
          By the enhanced permeability and retention effect, nanoparticles (NPs) can be passively extravasated through leaky vascularization, allowing their accumulation at the tumor region (A). In this case, drugs may be released in the extracellular matrix and then diffuse through the tissue. Active targeting (B) can enhance the therapeutic efficacy of drugs by the increased accumulation and cellular uptake of NPs through receptor-mediated endocytosis. NPs can be engineered to incorporate ligands that bind to endothelial cell surface receptors. In this case, the enhanced permeability and retention effect does not pertain, and the presence of leaky vasculature is not required.

          Passive Targeting

          Passive targeting takes advantage of the unique pathophysiological characteristics of tumor vessels, enabling nanodrugs to accumulate in tumor tissues. Typically, tumor vessels are highly disorganized and dilated with a high number of pores, resulting in enlarged gap junctions between endothelial cells and compromised lymphatic drainage. The ‘leaky’ vascularization, which refers to the EPR effect, allows migration of macromolecules up to 400 nm in diameter into the surrounding tumor region.[147–149] One of the earliest nanoscale technologies for passive targeting of drugs was based on the use of liposomes. More advanced liposomes are coated with a synthetic polymer that protects the agents from immune destruction.[150]

          Moreover, the EPR effect, the microenvironment surrounding tumor tissue, is different from that of healthy cells, a physiological phenomenon that also supports passive targeting. Based on the high metabolic rate of fast-growing tumor cells, they require more oxygen and nutrients. Consequently, glycolysis is stimulated to obtain extra energy, resulting in an acidic environment.[151] Taking advantage of this, pH-sensitive liposomes have been designed to be stable at physiological pH 7.4, but degraded to release drug molecules at the acidic pH.[152]

          Although passive targeting approaches form the basis of clinical therapy, they suffer from several limitations. Ubiquitously targeting cells within a tumor is not always feasible because some drugs cannot diffuse efficiently, and the random nature of the approach makes it difficult to control the process. The passive strategy is further limited because certain tumors do not exhibit an EPR effect, and the permeability of vessels may not be the same throughout a single tumor.[153]

          Active Targeting

          One way to overcome the limitations of passive targeting is to attach affinity ligands (antibodies,[154]peptides,[155] aptamers[156] or small molecules[157] that only bind to specific receptors on the cell surface) to the surface of the nanocarriers by a variety of conjugation chemistries. Nanocarriers will recognize and bind to target cells through ligand–receptor interactions by the expression of receptors or epitopes on the cell surface. In order to achieve high specificity, those receptors should be highly expressed on tumor cells, but not on normal cells. Furthermore, the receptors should homogeneously express and should not be shed into the blood circulation. Internalization of targeting conjugates can also occur by receptor-mediated endocytosis after binding to target cells, facilitating drug release inside the cells. Based on the receptor-mediated endocytosis mechanism, targeting conjugates bind with their receptors first, followed by plasma membrane enclosure around the ligand–receptor complex to form an endosome. The newly formed endosome is transferred to specific organelles, and drugs could be released by acidic pH or enzymes. Although the active targeting strategy looks intriguing, nanodrugs currently approved for clinical use are relatively simple and generally lack active targeting or triggered drug release components. Moreover, nanodrugs currently under clinical development lack specific targeting. To fully explore the application of targeted drug delivery, we need to investigate whether the specific diseases are the correct application for targeting, whether the properties of the therapeutic drugs, as well as their site and mode of action, are suited for targeting and whether the delivery vehicles are optimal for product development.[158]

          Key Factors Impacting Drug Delivery

          In order to achieve effective drug delivery, nanocarriers must have suitable circulation time to prevent the elimination of drugs before reaching their target. Based on previous investigations, size, shape and surface characteristics are key factors that impact the efficiency of drug delivery systems.

          Summary

          Nanotechnology is an emerging field with the potential to revolutionize drug delivery. Advances in this area have allowed some nanomedicines in the market to achieve desirable pharmacokinetic properties, reduce toxicity and improve patient compliance, as well as clinical outcomes. Integration of nanoparticulate drug delivery technologies in preformulation work not only accelerates the development of new therapeutic moieties, but also helps in the reduction of attrition of new molecular entities caused by undesirable biopharmaceutical and pharmacokinetic properties.

          Optimizing the integration of nanomaterials into drug delivery systems will require standardized metrics for their classification, as well as protocols for their handling. This will, in turn, result in a better understanding of the interactions of nanomaterials with biological systems, which will facilitate better engineering of their properties specific to biomedical applications. The development of such drug carriers will require a greater understanding of both the surface chemistry of nanomaterials and the interaction chemistry of these nanomaterials with biological systems. This can only be achieved through collaborative efforts among scientists in different disciplines. Those who work in this emerging field should have up-to-date information on related toxicology issues, potential health and safety risks and the regulatory environment that will impact patient use. Understanding both the benefits and the risks of these new nanotechnology applications will be essential to good decision-making for drug developers, regulators and ultimately the consumers and patients who will be the beneficiaries of new drug delivery technologies.

        5. Nanoparticles wrapped inside human platelet membranes serve as new vehicles for targeted drug delivery.

http://www.technologynetworks.com/news.aspx?ID=183111

Nanoparticles disguised as human platelets could greatly enhance the healing power of drug treatments for cardiovascular disease and systemic bacterial infections. These platelet-mimicking nanoparticles, developed by engineers at the University of California, San Diego, are capable of delivering drugs to targeted sites in the body — particularly injured blood vessels, as well as organs infected by harmful bacteria. Engineers demonstrated that by delivering the drugs just to the areas where the drugs were needed, these platelet copycats greatly increased the therapeutic effects of drugs that were administered to diseased rats and mice.

“This work addresses a major challenge in the field of nanomedicine: targeted drug delivery with nanoparticles,” said Liangfang Zhang, a nanoengineering professor at UC San Diego and the senior author of the study. “Because of their targeting ability, platelet-mimicking nanoparticles can directly provide a much higher dose of medication specifically to diseased areas without saturating the entire body with drugs.”

Schematic-of-platelet-nanoparticles-150915-f.jpg

The study is an excellent example of using engineering principles and technology to achieve “precision medicine,” said Shu Chien, a professor of bioengineering and medicine, director of the Institute of Engineering in Medicine at UC San Diego, and a corresponding author on the study. “While this proof of principle study demonstrates specific delivery of therapeutic agents to treat cardiovascular disease and bacterial infections, it also has broad implications for targeted therapy for other diseases such as cancer and neurological disorders,” said Chien.

The ins and outs of the platelet copycats

On the outside, platelet-mimicking nanoparticles are cloaked with human platelet membranes, which enable the nanoparticles to circulate throughout the bloodstream without being attacked by the immune system. The platelet membrane coating has another beneficial feature: it preferentially binds to damaged blood vessels and certain pathogens such as MRSA bacteria, allowing the nanoparticles to deliver and release their drug payloads specifically to these sites in the body.

Enclosed within the platelet membranes are nanoparticle cores made of a biodegradable polymer that can be safely metabolized by the body. The nanoparticles can be packed with many small drug molecules that diffuse out of the polymer core and through the platelet membrane onto their targets.

To make the platelet-membrane-coated nanoparticles, engineers first separated platelets from whole blood samples using a centrifuge. The platelets were then processed to isolate the platelet membranes from the platelet cells. Next, the platelet membranes were broken up into much smaller pieces and fused to the surface of nanoparticle cores. The resulting platelet-membrane-coated nanoparticles are approximately 100 nanometers in diameter, which is one thousand times thinner than an average sheet of paper.

This cloaking technology is based on the strategy that Zhang’s research group had developed to cloak nanoparticles in red blood cell membranes. The researchers previously demonstrated that nanoparticles disguised as red blood cells are capable of removing dangerous pore-forming toxins produced by MRSA, poisonous snake bites and bee stings from the bloodstream.

By using the body’s own platelet membranes, the researchers were able to produce platelet mimics that contain the complete set of surface receptors, antigens and proteins naturally present on platelet membranes. This is unlike other efforts, which synthesize platelet mimics that replicate one or two surface proteins of the platelet membrane.

“Our technique takes advantage of the unique natural properties of human platelet membranes, which have a natural preference to bind to certain tissues and organisms in the body,” said Zhang. This targeting ability, which red blood cell membranes do not have, makes platelet membranes extremely useful for targeted drug delivery, researchers said.

Platelet copycats at work

In one part of this study, researchers packed platelet-mimicking nanoparticles with docetaxel, a drug used to prevent scar tissue formation in the lining of damaged blood vessels, and administered them to rats afflicted with injured arteries. Researchers observed that the docetaxel-containing nanoparticles selectively collected onto the damaged sites of arteries and healed them.

When packed with a small dose of antibiotics, platelet-mimicking nanoparticles can also greatly minimize bacterial infections that have entered the bloodstream and spread to various organs in the body. Researchers injected nanoparticles containing just one-sixth the clinical dose of the antibiotic vancomycin into one of group of mice systemically infected with MRSA bacteria. The organs of these mice ended up with bacterial counts up to one thousand times lower than mice treated with the clinical dose of vancomycin alone.

“Our platelet-mimicking nanoparticles can increase the therapeutic efficacy of antibiotics because they can focus treatment on the bacteria locally without spreading drugs to healthy tissues and organs throughout the rest of the body,” said Zhang. “We hope to develop platelet-mimicking nanoparticles into new treatments for systemic bacterial infections and cardiovascular disease.”

6.  Sponge-like nanoporous gold could be key to new devices to detect disease-causing agents in humans and plants, according to UC Davis researchers.

http://www.technologynetworks.com/news.aspx?ID=182663

A group from the UC Davis Department of Electrical and Computer Engineering have demonstrated that they could detect nucleic acids  using nanoporous gold, a novel sensor coating material, in mixtures of other biomolecules that would gum up most detectors. This method enables sensitive detection of DNA in complex biological samples, such as serum from whole blood.

“Nanoporous gold can be imagined as a porous metal sponge with pore sizes that are a thousand times smaller than the diameter of a human hair,” said Erkin Şeker, assistant professor of electrical and computer engineering at UC Davis and the senior author on the papers. “What happens is the debris in biological samples, such as proteins, is too large to go through those pores, but the fiber-like nucleic acids that we want to detect can actually fit through them. It’s almost like a natural sieve.”

CoverArt_nanoporous_gold.png

Rapid and sensitive detection of nucleic acids plays a crucial role in early identification of pathogenic microbes and disease biomarkers. Current sensor approaches usually require nucleic acid purification that relies on multiple steps and specialized laboratory equipment, which limit the sensors’ use in the field. The researchers’ method reduces the need for purification.

“So now we hope to have largely eliminated the need for extensive sample clean-up, which makes the process conducive to use in the field,” Şeker said.

The result is a faster and more efficient process that can be applied in many settings.

The researchers hope the technology can be translated into the development of miniature point-of-care diagnostic platforms for agricultural and clinical applications.

“The applications of the sensor are quite broad ranging from detection of plant pathogens to disease biomarkers,” said Şeker.

For example, in agriculture, scientists could detect whether a certain pathogen exists on a plant without seeing any symptoms. And in sepsis cases in humans, doctors might determine bacterial contamination much more quickly than at present, preventing any unnecessary treatments.

7.  Pushing the limits of lensless imaging

http://www.rdmag.com/news/2015/09/pushing-limits-lensless-imaging?

The Optical Society

To take a picture with this method, scientists fire an X-ray or extreme ultraviolet laser at a target. The light scatters off, and some of those photons interfere with one another and find their way onto a detector, creating a diffraction pattern. By analyzing that pattern, a computer then reconstructs the path those photons must have taken, which generates an image of the target material—all without the lens that’s required in conventional microscopy.

WASHINGTON — Using ultrafast beams of extreme ultraviolet light streaming at a 100,000 times a second, researchers from the Friedrich Schiller University Jena, Germany, have pushed the boundaries of a well-established imaging technique. Not only did they make the highest resolution images ever achieved with this method at a given wavelength, they also created images fast enough to be used in real time. Their new approach could be used to study everything from semiconductor chips to cancer cells.

The team will present their work at the Frontiers in Optics, The Optical Society’s annual meeting and conference in San Jose, California, USA, on October 22, 2015.

The researchers’ wanted to improve on a lensless imaging technique called coherent diffraction imaging, which has been around since the 1980s. To take a picture with this method, scientists fire an X-ray or extreme ultraviolet laser at a target. The light scatters off, and some of those photons interfere with one another and find their way onto a detector, creating a diffraction pattern. By analyzing that pattern, a computer then reconstructs the path those photons must have taken, which generates an image of the target material—all without the lens that’s required in conventional microscopy.

“The computer does the imaging part—forget about the lens,” explained Michael Zürch, Friedrich Schiller University Jena, Germany and lead researcher. “The computer emulates the lens.”

Without a lens, the quality of the images primarily depends on the radiation source. Traditionally, researchers use big, powerful X-ray beams like the one at the SLAC National Accelerator Laboratory in Menlo Park, CA, USA. Over the last 10 years, researchers have developed smaller, cheaper machines that pump out coherent, laser-like beams in the laboratory setting. While those machines are convenient from the cost perspective, they have drawbacks when reporting results.

The table-top machines are unable to produce as many photons as the big expensive ones which limits their resolution. To achieve higher resolutions, the detector must be placed close to the target material—similar to placing a specimen close to a microscope to boost the magnification. Given the geometry of such short distances, hardly any photons will bounce off the target at large enough angles to reach the detector. Without enough photons, the image quality is reduced.

Zürch and a team of researchers from Jena University used a special, custom-built ultrafast laser that fires extreme ultraviolet photons a hundred times faster than conventional table-top machines. With more photons, at a wavelength of 33 nanometers, the researchers were able to make an image with a resolution of 26 nanometers — almost the theoretical limit. “Nobody has achieved such a high resolution with respect to the wavelength in the extreme ultraviolet before,” Zürch said.

The ultrafast laser also overcame another drawback of conventional table-top light sources: long exposure times. If researchers have to wait for images, they can’t get real-time feedback on the systems they study. Thanks to the new high-speed light source, Zürch and his colleagues have reduced the exposure time to only about a second — fast enough for real-time imaging. When taking snapshots every second, the researchers reached a resolution below 80 nanometers.

The prospect of high-resolution and real-time imaging using such a relatively small setup could lead to all kinds of applications, Zürch said. Engineers can use this to hunt for tiny defects in semiconductor chips. Biologists can zoom in on the organelles that make up a cell. Eventually, he said, the researchers might be able to cut down on the exposure times even more and reach even higher resolution levels.

About FiO/LS

Frontiers in Optics (FiO) 2015 is The Optical Society’s (OSA) 99th Annual Meeting and is being held together with Laser Science, the 31th annual meeting of the American Physical Society (APS) Division of Laser Science (DLS). The two meetings unite the OSA and APS communities for five days of quality, cutting-edge presentations, in-demand invited speakers and a variety of special events spanning a broad range of topics in optics and photonics—the science of light—across the disciplines of physics, biology and chemistry. The exhibit floor will feature leading optics companies, technology products and programs.

About The Optical Society

Founded in 1916, The Optical Society (OSA) is a leading professional organization for scientists, engineers, students and entrepreneurs who fuel discoveries, shape real-life applications and accelerate achievements in the science of light. Through world-renowned publications, meetings and membership initiatives, OSA provides quality research, inspired interactions and dedicated resources for its extensive global network of optics and photonics experts. OSA is a founding partner of the National Photonics Initiative and the 2015 International Year of Light.

SOURCE: The Optical Society

8.  Physicists determine three-dimensional positions of individual atoms for the first time
http://www.rdmag.com/news/2015/09/physicists-determine-three-dimensional-positions-individual-atoms-first-time?

Katherine Kornei, UCLA
The scientists were able to plot the exact coordinates of nine layers of atoms with a precision of 19 trillionths of a meter. Courtesy of Mary Scott and Jianwei (John) Miao/UCLAAtoms are the building blocks of all matter on Earth, and the patterns in which they are arranged dictate how strong, conductive or flexible a material will be. Now, scientists at UCLA have used a powerful microscope to image the three-dimensional positions of individual atoms to a precision of 19 trillionths of a meter, which is several times smaller than a hydrogen atom.

Their observations make it possible, for the first time, to infer the macroscopic properties of materials based on their structural arrangements of atoms, which will guide how scientists and engineers build aircraft components, for example. The research, led by Jianwei (John) Miao, a UCLA professor of physics and astronomy and a member of UCLA’s California NanoSystems Institute, is published September 21 in the online edition of the journal Nature Materials.

For more than 100 years, researchers have inferred how atoms are arranged in three-dimensional space using a technique called X-ray crystallography, which involves measuring how light waves scatter off of a crystal. However, X-ray crystallography only yields information about the average positions of many billions of atoms in the crystal, and not about individual atoms’ precise coordinates.

“It’s like taking an average of people on Earth,” Miao said. “Most people have a head, two eyes, a nose and two ears. But an image of the average person will still look different from you and me.”

Because X-ray crystallography doesn’t reveal the structure of a material on a per-atom basis, the technique can’t identify tiny imperfections in materials, such as the absence of a single atom. These imperfections, known as point defects, can weaken materials, which can be dangerous when the materials are components of machines like jet engines.

“Point defects are very important to modern science and technology,” Miao said.

Miao and his team used a technique known as scanning transmission electron microscopy, in which a beam of electrons smaller than the size of a hydrogen atom is scanned over a sample and measures how many electrons interact with the atoms at each scan position. The method reveals the atomic structure of materials because different arrangements of atoms cause electrons to interact in different ways.

However, scanning transmission electron microscopes only produce two-dimensional images. So, creating a 3-D picture requires scientists to scan the sample once, tilt it by a few degrees and re-scan it—repeating the process until the desired spatial resolution is achieved—before combining the data from each scan using a computer algorithm. The downside of this technique is that the repeated electron beam radiation can progressively damage the sample.

Using a scanning transmission electron microscope at the Lawrence Berkeley National Laboratory’s Molecular Foundry, Miao and his colleagues analyzed a small piece of tungsten, an element used in incandescent light bulbs. As the sample was tilted 62 times, the researchers were able to slowly assemble a 3-D model of 3,769 atoms in the tip of the tungsten sample.

The experiment was time consuming because the researchers had to wait several minutes after each tilt for the setup to stabilize.

“Our measurements are so precise, and any vibrations—like a person walking by—can affect what we measure,” said Peter Ercius, a staff scientist at Lawrence Berkeley National Laboratory and an author of the paper.

The researchers compared the images from the first and last scans to verify that the tungsten had not been damaged by the radiation, thanks to the electron beam energy being kept below the radiation damage threshold of tungsten.

Miao and his team showed that the atoms in the tip of the tungsten sample were arranged in nine layers, the sixth of which contained a point defect. The researchers believe the defect was either a hole in an otherwise filled layer of atoms or one or more interloping atoms of a lighter element such as carbon.

Regardless of the nature of the point defect, the researchers’ ability to detect its presence is significant, demonstrating for the first time that the coordinates of individual atoms and point defects can be recorded in three dimensions.

“We made a big breakthrough,” Miao said.

Miao and his team plan to build on their results by studying how atoms are arranged in materials that possess magnetism or energy storage functions, which will help inform our understanding of the properties of these important materials at the most fundamental scale.

“I think this work will create a paradigm shift in how materials are characterized in the 21st century,” he said. “Point defects strongly influence a material’s properties and are discussed in many physics and materials science textbooks. Our results are the first experimental determination of a point defect inside a material in three dimensions.”

The study’s co-authors include Rui Xu, Chien-Chun Chen, Li Wu, Mary Scott, Matthias Bartels, Yongsoo Yang and Michael Sawaya, all of UCLA; as well as Colin Ophus of Lawrence Berkeley National Laboratory; Wolfgang Theis of the University of Birmingham; Hadi Ramezani-Dakhel and Hendrik Heinz of the University of Akron; and Laurence Marks of Northwestern University.

This work was primarily supported by the U.S. Department of Energy’s Office of Basic Energy Sciences (grant DE-FG02-13ER46943 and contract DE-AC02—05CH11231).

9.  An SDSU chemist has developed a technique to identify potential cancer drugs that are less likely to produce side effects.

http://www.technologynetworks.com/medchem/news.aspx?ID=183124

A class of therapeutic drugs known as protein kinase inhibitors has in the past decade become a powerful weapon in the fight against various life-threatening diseases, including certain types of leukemia, lung cancer, kidney cancer and squamous cell cancer of the head and neck. One problem with these drugs, however, is that they often inhibit many different targets, which can lead to side effects and complications in therapeutic use. A recent study by San Diego State University chemist Jeffrey Gustafson has identified a new technique for improving the selectivity of these drugs and possibly decreasing unwanted side effects in the future.

Why are protein kinase–inhibiting drugs so unpredictable? The answer lies in their molecular makeup.

Many of these drug candidates possess examples of a phenomenon known as atropisomerism. To understand what this is, it’s helpful to understand a bit of the chemistry at work. Molecules can come in different forms that have exactly the same chemical formula and even the same bonds, just arranged differently. The different arrangements are mirror images of each other, with a left-handed and a right-handed arrangement. The molecules’ “handedness” is referred to as chirality. Atropisomerism is a form of chirality that arises when the spatial arrangement has a rotatable bond called an axis of chirality. Picture two non-identical paper snowflakes tethered together by a rigid stick.

Some axes of chirality are rigid, while others can freely spin about their axis. In the latter case, this means that at any given time, you could have one of two different “versions” of the same molecule.

Watershed treatment

As the name suggests, kinase inhibitors interrupt the function of kinases—a particular type of enzyme—and effectively shut down the activity of proteins that contribute to cancer.

“Kinase inhibition has been a watershed for cancer treatment,” said Gustafson, who attended SDSU as an undergraduate before earning his Ph.D. in organic chemistry from Yale University, then working there as a National Institutes of Health poctdoctoral fellow in chemical biology.

“However, it’s really hard to inhibit a single kinase,” he explained. “The majority of compounds identified inhibit not just one but many kinases, and that can lead to a number of side effects.”

Many kinase inhibitors possess axes of chirality that are freely spinning. The problem is that because you can’t control which “arrangement” of the molecule is present at a given time, the unwanted version could have unintended consequences.

In practice, this means that when medicinal chemists discover a promising kinase inhibitor that exists as two interchanging arrangements, they actually have two different inhibitors. Each one can have quite different biological effects, and it’s difficult to know which version of the molecule actually targets the right protein.

“I think this has really been under-recognized in the field,” Gustafson said. “The field needs strategies to weed out these side effects.”

Applying the brakes

So that’s what Gustafson did in a recently published study. He and his colleagues synthesized atropisomeric compounds known to target a particular family of kinases known as tyrosine kinases. To some of these compounds, the researchers added a single chlorine atom which effectively served as a brake to keep the atropisomer from spinning around, locking the molecule into either a right-handed or a left-handed version.

When the researchers screened both the modified and unmodified versions against their target kinases, they found major differences in which kinases the different versions inhibited. The unmodified compound was like a shotgun blast, inhibiting a broad range of kinases. But the locked-in right-handed and left-handed versions were choosier.

“Just by locking them into one or another atropisomeric configuration, not only were they more selective, but they inhibited different kinases,” Gustafson explained.

If drug makers incorporated this technique into their early drug discovery process, he said, it would help identify which version of an atropisomeric compound actually targets the kinase they want to target, cutting the potential for side effects and helping to usher drugs past strict regulatory hurdles and into the hands of waiting patients.

11.  ‘Nanocubes’ Make PSA Test Over 100 Times More Sensitive

http://www.mdtmag.com/news/2015/09/nanocubes-make-psa-test-over-100-times-more-sensitive?

A new catalyst that improves the sensitivity of the standard PSA test more than 100-fold, pictured above, is made of palladium nanocubes coated with iridium. (Credit: Xiaohu Xia, Michigan Technological University)

Say you’ve been diagnosed with prostate cancer, the second-leading cause of cancer death in men. You opt for surgery to remove your prostate. Three months later, a prostate surface antigen (PSA) test shows no prostate cells in your body. Everyone rejoices.

Until 18 months later, when another PSA test reveals that now prostate cells have reappeared. What happened?

The first PSA test yielded what’s known as a false negative result. It did not detect the handful of cells that remained after surgery and later multiplied. Now a chemist at Michigan Technological University has made a discovery that could, among other things, slash the numbers of false negatives in PSA tests.

Xiaohu Xia and his team, including researchers from Louisiana State University and the University of Texas at Dallas, have developed a new catalyst that could make lab tests like the PSA much more sensitive. And it may even speed up reactions that neutralize toxic industrial chemicals before they enter lakes and streams.

A paper on the research, “Pd-Ir Core-Shell Nanocubes: A Type of Highly Efficient and Versatile Peroxidase Mimic,” was published online Sept. 3 in ACS Nano. In addition to Xia, the coauthors are graduate students Jingtuo Zhang, Jiabin Liu and Haihang Ye and undergraduate Erin McKenzie of Michigan Tech; Moon J. Kim and Ning Lu of the University of Texas at Dallas; and Ye Xu and Kushal Ghale of Louisiana State University. The LSU team conducted theoretical calculations, and the UT Dallas team contributed high-resolution electron microscopy images.

Their new catalyst mimics the action of similar biochemicals found in nature, called peroxidases. “In animals and plants, these peroxidases are important– for example, they get rid of hydrogen peroxide, which is harmful to the organism,” said Xia, an assistant professor of chemistry at Michigan Tech. In medicine, peroxidases have become powerful tools for accelerating chemical reactions in diagnostic tests; a peroxidase found in the horseradish root is commonly used in the standard PSA test.

However, these natural peroxidases have drawbacks. They can be difficult to extract and purify. “And, they are made of protein, which isn’t very stable,” Xia explained. “At high temperatures, they cook, like meat.”

“Moreover, their efficiency is just fair,” he added. “We wanted to develop a mimic peroxidase that was substantially more efficient than the natural peroxidase, which would lead to a more-sensitive PSA test.”

Their new catalyst, made from nanoscale cubes of palladium coated with a few layers of iridium atoms, does just that. PSA tests Xia’s team conducted using the palladium-iridium catalyst were 110 times more sensitive than tests completed with the conventional peroxidase.

“After surgery, it’s vital to detect a tiny amount of prostate antigen, because otherwise you can get a false negative and perhaps delay treatment for cancer,” said Xia. “Our ultimate goal is to further refine our system for use in clinical diagnostic laboratories.”

Xia hopes that his mimic peroxidase will someday save lives through earlier detection of cancer and other maladies. He also plans to explore other applications, including how it compares with horseradish peroxidase in other catalytic reactions: breaking down toxic industrial-waste products like phenols into harmless substances.

Finally, the team wants to better understand why its palladium-iridium catalyst works so well. “We know the iridium coating is the key,” Xia said. “We think it makes the surface sticky, so the chemical reagents bind to it better.”

12.  Using Proteomics To Understand How Genetic Mutations Rewire Cancer Cells

http://www.laboratorynetwork.com/doc/using-proteomics-to-understand-genetic-mutations-rewire-cancer-cells-0001?

SAN JOSE, Calif.–(BUSINESS WIRE)–Thermo Fisher Scientific and the Biotech Research and Innovation Center (BRIC) at the University of Copenhagen (UCPH) have shared results from two important scientific papers that advance understanding of how gene mutations drive cancer progression. The two landmark studies, published this week in the journal ; CELL, are some of the early results of the strategic collaboration between Thermo Fisher Scientific and the Linding Lab at BRIC, UCPH.

Using advanced Thermo Scientific Orbitrap Fusion mass spectrometry and next-generation sequencing technologies, researchers from the Universities of Copenhagen, Yale, Zurich, Rome and Tottori describe how specific cancer mutations target and damage the protein signaling networks within human cells on a global scale.

By developing advanced algorithms to integrate data from quantitative mass-spectrometry and next generation sequencing of tumor samples, the researchers have been able to uncover cancer-related changes to phosphorylation signaling networks. This new breakthrough allows researchers to identify the effects of mutations on the function of protein pathways in cancer for individual patients, even if those mutations are very rare.

Lead BRIC researcher Dr. Rune Linding said: “The identification of distinct changes within our tissues that could have the potential to help predict and treat cancer is a major step forward and we are confident that it can aid in the development of novel therapies and screening techniques.”

Since the human genome was decoded more than a decade ago, large scale cancer genome studies have successfully identified gene mutations in individual patients and tumors. However to develop improved cancer therapies, researchers need to explain and relate this genomic data to proteins, the targets of most pharmaceutical drugs. Creating this linkage provides powerful new insights into cancer biology and potential therapeutic approaches.

“The studies highlight the importance of integrating proteomics with genomics in future cancer studies and underscores the value of the broad technological expertise within Thermo Fisher,” said Ken Miller, vice president of research product marketing, life sciences mass spectrometry at Thermo Fisher. “It is becoming increasingly apparent that the genetic basis for each patient’s cancer is subtly, but importantly, different. This realization will inevitably lead to a need for tools to acquire and assess patient-specific information to develop highly personalized therapies with the potential for much greater efficacy. It is hoped that the novel approaches described in these studies, together with best-in-class enabling technologies such as the Orbitrap and Ion Torrent systems, will continue to improve our knowledge of cancer biology.”

The Biotech Research & Innovation Centre (BRIC) was established in 2003 by the Danish Ministry of Science, Technology and Innovation to form an elite centre in biomedical research.

The two studies will be available in advance online and printed in the 24th September issue of CELL, a premier journal in life and biological sciences. More information about the studies and links to media content can be found on http://www.lindinglab.science and http://www.bric.ku.dk. The work was supported by the European Research Council (ERC), the Lundbeck Foundation and Human Frontier Science Program.

13.  Multi-Ancestry GWAS Uncovers a Dozen New Loci Linked to Blood Pressure

Sep 21, 2015

https://www.genomeweb.com/cardiovascular-disease/multi-ancestry-gwas-uncovers-dozen-new-loci-linked-blood-pressure?

NEW YORK (GenomeWeb) – In Nature Genetics, an international team described a dozen new loci influencing blood pressure patterns across individuals from multiple populations — a set that overlaps with variants implicated in epigenetic features of blood and other tissues.

Through a multi-stage genome-wide association study that relied on genotyping information for as many as 320,251 individuals of East Asian, South Asian, and European descent, the researchers focused in on SNPs at 12 blood pressure-associated sites in the genome, including loci previously linked to cardiac or metabolic functions.

In particular, the team saw blood pressure-linked variants in and around genes contributing to vascular smooth muscle and renal function. And a large proportion of the associated SNPs — or variants in linkage disequilibrium with them — turned up at sites already implicated in control of DNA methylation.

“We note an effect of genome-wide-associated sentinel SNPs on DNA methylation for traits in addition to blood pressure, suggesting that DNA methylation might have a wider role in linking common genetic variation to multiple phenotypes,” the study’s authors wrote.

More than a billion people around the world are affected by high blood pressure, the team explained, a condition that elevates the risk of heart disease, heart attack, stroke, and chronic kidney disease.

Because it occurs at especially high rates in East Asian and South Asian populations, the investigators reasoned that it might be possible to find both ancestry-specific and trans-ancestral genetic associations with high blood pressure.

The team started by analyzing imputed and directly genotyped SNPs in 31,516 individuals of East Asian ancestry, 35,352 individuals with European ancestry, and 33,126 individuals of South Asian descent, searching for variants associated with systolic blood pressure, diastolic blood pressure, pulse pressure, mean arterial pressure, and hypertension.

Through analyses on each population individually and in a meta-analysis of individuals from all three populations, the researchers initially identified 630 loci with suspected ties to at least one of the five blood pressure traits considered.

They then compared the top SNP at each site against data on as many as 87,205 individuals tested for various blood pressure traits for the International Consortium on Blood Pressure GWAS, narrowing in on 19 loci with potential ties to blood pressure that were not described in the past.

The team confirmed blood pressure associations for SNPs at 12 of the new loci through testing on another 48,268 East Asians, 68,456 Europeans, and 16,328 South Asians.

The analysis also verified almost two-dozen loci linked to blood pressure in the past and pointed to 17 sites in the genome with weaker ties to the traits of interest.

Variants at the 12 new loci seemed to have similar effects on the five traits in question, regardless of the population considered, while variants that first appeared to show population-specific effects in East Asians and Europeans did not pan out in replication testing.

By folding in linkage disequilibrium patterns for SNPs at the new blood pressure-associated sites, the researchers got a look at genes that fall near these linked SNPs — a collection that includes genes such as PDE3A, KCNK3, and PRDM6.

They also used these linkage patterns to look for overlap with DNA methylation-related SNPs, demonstrating that 28 of 35 SNPs at these loci seem to be linked to altered DNA methylation levels and related expression shifts in samples from thousands of Europeans or East Asians.

And the team saw similar effects in hundreds of cord blood samples subjected to methylation profiling, suggesting the effect is not simply a consequence of high blood pressure itself.

“The presence of these associations at an early stage of life, before substantial environmental exposure, lends support to the view that the sequence variants have a direct effect on DNA methylation and argues against reverse causation,” the study authors wrote.

14.  Elabela, A New Human Embryonic Stem Cell Growth Factor

September 20, 2015 by mburatov

When embryonic stem cell lines are made, they are traditionally grown on a layer of “feeder cells” that secrete growth factors that keep the embryonic stem cells (ESCs) from differentiating and drive them to grow. These feeder cells are usually irradiated mouse fibroblasts that coat the culture dish, but do not divide. Mouse ESCs can be grown without feeder cells if the growth factor LIF is provided in the medium. LIF, however, is not the growth factor required by human ESCs, and therefore, designing culture media for human ESCs to help them grow without feeder cells has proven more difficult.

Having said that, several laboratories have designed media that can be used to derive human embryonic stem cells without feeder cells. Such a procedure is very important if such cells are to be used for therapeutic purposes, since animal cells can harbor difficult to detect viruses and unusual sugars on their cell surfaces that can also be transferred to human ESCs in culture. These unusual sugars can elicit a strong immune response against them, and for this reason, ESCs must be cultivated or derived under cell-free conditions. However, to design good cell-free culture media, we must know more about the growth factors required by ESCs.

To that end, Bruno Reversade from The Institute of Molecular and Cell Biology in Singapore and others have identified a new growth factor that human ESCs secrete themselves. This protein, ELABELA (ELA), was first identified as a signal for heart development. However, Reversade’s laboratory has discovered that ELA is also abundantly secreted by human ESCs and is required for human ESCs to maintain their ability to self-renew.

Reversade and others deleted the ELA gene with the CRISPR/Cas9 system, and they also knocked the expression of this gene down in other cells with small interfering RNAs. Alternatively, they also incubated human ESCs with antibodies against ELA, which neutralized ELA and prevented it from binding to the cell surface. However Ela was inhibited, the results were the same; reduced ESC growth, increased amounts of cell death, and loss of pluripotency.

How does ELA signal to cells to grow? Global signaling studies of growing human ESCs showed that ELA activates the PI3K/AKT/mTORC1 signaling pathway, which has been show in other work to be required for cell survival. By activating this pathway, ELA drives human ESCs through the cell-cycle progression, activates protein synthesis, and inhibits stress-induced apoptosis.

Interestingly, INSULIN and ELA have partially overlapping functions in human ESC culture medium, but only ELA seems to prime human ESCs toward the endoderm lineage. In the heart, ELA binds to the Apelin receptor APLNR. This receptor, however, is not expressed in human ESCs, which suggests that another receptor, whose identity remains unknown at the moment, binds ELA in human ESCs.

Thus ELA seems to act through an alternate cell-surface receptor, is an endogenous secreted growth factor in human

This paper was published in the journal Cell Stem Cell.

15.  Multiwavelength TIRF Microscopy Enables Insight into Actin Filaments

http://www.photonics.com/Article.aspx?PID=1&AID=57707

Researchers at the University of California, San Francisco (UCSF) are combining multiple laser excitation wavelengths in total internal reflection fluorescence (TIRF) microscopy to investigate the binding dynamics of individual actin filaments.

DAN CALLEN, COHERENT INC.

TIRF microscopy provides a unique method of imaging isolated molecules and complexes in vitro. Additionally, the use of sensitive, low-noise cameras enables researchers to study this behavior in real time. A new plug-and-play method of combining several fiber-delivered, digitally modulated lasers into a single instrument, such as a TIRF microscope, now enables multiple labeled proteins to be imaged pseudosimultaneously at high frame rates. This article explores how multiwavelength excitation is being combined with TIRF microscopy in the laboratory of Dr. Dyche Mullins, a professor at UCSF, and how it’s being used to gain new insights into complex biochemical interactions that control the stability and function of actin filaments.

TIRF microscopy in single-filament studies

The Mullins Lab, located at UCSF’s Mission Bay campus, is widely recognized as a leading authority on the study of actin filaments. The protein filaments are fundamental to many processes in virtually every eukaryotic cell — they act as structural elements that enable movement of internal cargoes, amoeboid cell migration, cell division, etc. With these filaments playing so many different roles, it is not surprising that their combination of growth, branching, aggregation and movement involves many subtle control options, which are mediated by a range of different proteins. Sam Lord, the Mullins Lab’s microscope specialist, said, “One area of our research is studying how various proteins bind to actin filaments to enable aggregation, branching and other actions, and more specifically, how yet another set of proteins modulates these binding processes. Obviously, we do bulk studies in a cuvette that reveal overall kinetic data about these binding processes but we also want to image these processes in real time to study the structural biochemistry.” In order to do so, the lab uses TIRF microscopy to observe single actin filaments.

This process involves excitation light that is introduced into the sample region through either a glass slide or a cover slip. The microscope’s optics are configured so that the light hits the glass/sample interface beyond the critical angle, meaning that all of the light will undergo total internal reflection (TIR). However, even with TIR, some of the light’s electric field, called the evanescent wave, penetrates into the sample by an incredibly short distance — typically around 100 nm — beyond the interface. This means that TIRF microscopy can be used to selectively excite fluorescence in molecules and complexes that are adhered to the interface. However, because the light does not penetrate into the bulk (i.e., background) sample region, this methodology will not excite fluorescence from the huge backdrop of molecules freely floating within this medium.

TIRF microscopy is thus a 3D-resolved imaging technique. Its X-Y resolution is limited only by diffraction and/or the camera resolution, but the Z-axis sampling depth is much smaller than the diffraction limit. If there is sufficient signal for fast frame acquisition speeds, the important fourth dimension — time — enables dynamic processes, such as actin filament-protein binding, to be observed on a single filament or on a network of filaments, in real time.

In principle, both laser and nonlaser light sources may be used for fluorescence excitation in such TIRF-based applications. However, for experiments with naturally low signal levels, such as single-molecule monitoring, a laser beam’s extreme brightness is a critical advantage. In particular, a laser’s unique spatial brightness means that it is relatively simple to collimate and subsequently focus the beam into the sample with a narrow range of incidence angles, avoiding excitation of the bulk sample.

Through-objective TIRF microscopy

All TIRF microscope setups are based on one of two basic approaches: through-objective lens geometry or the prism-based method. In the former approach, light is directed in an off-axis geometry through an oil-immersion microscope objective so that the angle of incidence at the coverslip/sample interface is greater than the critical angle, as is shown schematically in Figure 1.


Figure 1.
 In TIRF microscopy, excitation light beyond the critical light is completely reflected. The evanescence of the light field at the refractive interface penetrates into the sample by about 100 nm, causing selective excitation of molecules and complexes adhered to this interface. TIRF microscopes are available with a choice of either through-objective excitation or prism excitation options.
In the prism-based method, the orientation of the sample is reversed with respect to the imaging objective. A light beam is introduced to the sample through a prism attached to the cover slip; the geometry of the prism ensures that the incidence angle at the sample is greater than the critical angle.

Depending on the type of experiment being performed, there are both advantages and disadvantages to each of the above methods. For example, the prism method limits physical access to the sample. As Lord explained, the Mullins Lab uses a Nikon microscope in the through-objective configuration with a very high numerical aperture (NA = 1.49) for several reasons. “For single-molecule studies, fluorescence signal strength is always a major challenge, particularly since we are following processes that need fast frame rates. So, we need a high-NA objective with a small working distance to maximize light collection efficiency. These objectives require a coverglass of precise thickness and the sample near the top of the coverslip to minimize aberrations.” Lord also stated that caution must be taken so the team does not introduce scattering and other losses due to viewing fluorescence through the bulk of the sample.

Multiple, simultaneous laser wavelengths

As has been noted, the mechanisms controlling the binding of regulatory proteins to actin filaments are quite complex. To better understand these processes, the Mullins Lab increasingly has been using sophisticated, multiwavelength TIRF-based experiments. In order to image multiple fluorophores, Lord explained, “We can use either multiple sequenced lasers or a scope equipped with multiple cameras — we have setups for both arrangements.” He continued, “Multiple excitation wavelengths that sequence at high rates enable us to selectively image multiple, differently labeled targets using a microscope equipped with a single high-sensitivity camera, and ensures near-perfect image registration.”

When using multiple lasers, the two technical challenges are to perfectly coalign the lasers into the microscope objective and then to be able to switch between different wavelengths. In order to follow fast binding processes in real time, researchers typically must switch wavelengths between alternate camera frames to build up pseudosimultaneous (i.e., interleaved) videos at two or sometimes three laser wavelengths. This switching must be performed with no undesirable dead time (i.e., shifts in the beam path) and without using mechanical shutters or a complex and costly approach, such as an acousto-optic tunable filter.

Lord notes, “As recently as five years ago, we simply didn’t have low-cost options to conduct single molecule studies using multiple laser wavelengths pseudosimultaneously at the requisite frame rates (30 fps) in order to follow critical binding processes.” He added, “Digitally controllable diode or solid-state lasers, hardware sequencing electronics and quad-band optical filters make it possible to achieve nearly simultaneous multicolor imaging with a single camera.”

In 2014, the lab acquired several digitally modulatable smart lasers to enable multiwavelength TIRF microscopy. These lasers included Coherent’s fiber-pigtailed OBIS FP modules that operate at 488, 561 and 640 nm. The lab also acquired the OBIS Galaxy, which enables simple plug-and-play combining of up to eight fiber-coupled lasers into one, single-mode output fiber. As was detailed by Coherent’s Dan Callen and Matthias Schulze in BioPhotonics’ November 2014 issue (“Laser Combiner Enables Scanning Fluorescence Endoscopy,” www.photonics.com/A56915), this passive module enables lasers to be added or subtracted (i.e., hot-swapped) to any fiber-coupled instrument or setup in a few minutes or less via standard fiber connectors, such as FC/UFC and FC/APC connectors.

Figure 2. The OBIS Galaxy (shown with the top cover removed) allows plug-and-play combining of up to eight separate fiber coupled lasers into a single output fiber. Courtesy of Sam Lord.
The timing hardware setup at the Mullins Lab is very simple in design due to the fact that these smart lasers support direct digital modulation. In each experiment, the frame rate is set by the microscope’s high-sensitivity camera, which is an Andor DU897. The camera’s TTL output trigger pulses are processed in either a programmable Arduino board or an ESio controller, which then directs TTL pulses to fire one of the three lasers without any hardware or software delays. Alternating wavelengths typically are used in most experiments, although any sequence of wavelength frames easily can be programed using the Arduino and Micro-Manager software.1

According to Lord, the flexibility of this arrangement supports future experimental setups that have even greater levels of complexity. In particular, he added, “We may well add a 405-nm laser option in the near future. If/when this arrives, we can simply plug it in and we are ready to go.”

Investigating modulation of actin binding processes

In the team’s work on the binding of actin filaments, this flexible TIRF setup enables the Mullins Lab to conduct experiments with several different approaches. For example, in typical two-wavelength experiments, the actin filament is labeled with one fluorophore, and the protein of interest is labeled with another fluorophore. The protein fluorophore only appears in the TIRF-produced images if/when it binds to the actin sitting on the cover slip. One use of the third wavelength is to image a second protein, which is labeled with a different fluorophore. The image sequences then may reveal, for example, whether the proteins are interspersed at different sites on the filament, or whether the second protein promotes filament growth or branching from a new site. Or, it may reveal that the second protein competitively displaces the first.

In a recently published study,2 Mullins Lab researchers used their multilaser TIRF setup to investigate the details of control mechanisms associated with the binding of tropomyosins to actin filaments. Tropomyosins are coiled-coil proteins whose known functions are to bind actin filaments and thereby regulate multiple cytoskeletal functions — including actin network dynamics near the leading edge of motile cells.

Mullins explained, “The binding of tropomyosins to actin filaments is known to be fundamentally important in actin dynamics. But, we do not yet fully understand how this binding is regulated, especially near the leading edge of migrating cells. Why, for example, are filaments in the lamellum coated with tropomyosin while filaments in the adjacent lamellipod are not?” (Lamellum and lamellipod are distinct, actin-based substructures involved in cell migration.) He went on to state that, prior to his team’s latest studies, previous research demonstrated that tropomyosins inhibit actin nucleation by the Arp2/3 protein complex and that this, in turn, prevented filament severing by the protein cofilin.3,4 “So, we have recently used TIRF and other methods to investigate if and how the Arp2/3 complex and cofilin in turn modulate the binding of tropomyosins to actin filaments,” he said.


Figure 3.
 TIRF images showing Tm1A binding preferentially to the pointed end of single actin filaments. The red signal is from Cy5 labeled Tm1A fluorescence excited at 640 nm, and the green signal is due to Alexa 488 labeled actin excited at 488 nm. Courtesy of J.Y. Hsiao, L.M. Goins, N.A. Petek, R.D. Mullins.
The team members studied these interactions in the specific case of nonmuscle Drosophila tropomyosin protein, Tm1A. They also compared some of these interactions in Tm1A to the same interactions in rabbit skeletal muscle tropomyosin, as other researchers previously have found that mammalian skeletal muscle tropomyosin is the least-effective Arp2/3 inhibitor.2

Data from dual-wavelength excitation produced by TIRF microscopy methodology when applied to single filaments is shown in Figure 3. This information shows that Tm1A preferentially binds near the pointed end of actin filaments. By comparing similar data that resulted from different experimental conditions, the researchers showed that pointed-end binding is dependent on the nucleotide state of the actin and the Tm1A concentration.

Although a complete evaluation of all of the research’s results, conclusions and wider implications falls outside the scope of this article, Mullins does summarize some of the key points. “Binding of cyto-skeletal tropomyosin to actin filaments turns out to be more complicated than previously appreciated. Both nucleation and spreading of tropomyosin are strongly influenced by the conformation of the actin filament and the presence of other regulatory proteins.” Mullins added that, based on TIRF-produced images and other collected data, “We have been able to propose a model where the cooperation of the severing activity of cofilin and tropomyosin binding helps establish the border between the lamellipod and lamellum.” The role of cofilin in the model referenced by Mullin is shown in Figure 4.


Figure 4.
 These images summarize the role of cofilin in the model proposed by Hsaio et al. [ref]. The branched actin network on the left shows the situation in the absence of cofilin, where tropomyosin binding is blocked by Arp2/3 branches. The branched actin network on the right illustrates that in the presence of cofilin, new pointed ends are created, which allows tropomyosin to bind. Once tropomyosin is bound, it protects the actin filaments from further cofilin severing, possibly resulting in the transition from the lamellipod to the lamellum. Courtesy of J.Y. Hsiao, L.M. Goins, N.A. Petek, R.D. Mullins.
In summation, TIRF microscopy is a well-established technique for imaging single molecular structures and protein complexes. This method also enables their respective dynamics to be observed in real time. By providing a method to rapidly switch between two or more excitation wavelengths, the latest lasers and laser-combining technologies are now enabling researchers to perform TIRF microscopy experiments with a greater number of separate labels. This capability is delivering unique insights into important and multifaceted processes in the study of cell biology.

Meet the author

Dan Callen is a product manager at Coherent Inc. in Santa Clara, Calif.; email: daniel.callen@coherent.com.

References

1. A.D. Edelstein et al. (2014). Advanced methods of microscope control using μManager software. J Biol Methods, Vol. 1, No. 2, e10.

2. J.Y. Hsiao et al. (2015). Arp2/3 complex and cofilin modulate binding of tropomyosin to branched actin networks. Curr Biol, pp. 1-10.

3. L. Blanchoin et al. (2001). Inhibition of the Arp2/3 complex-nucleated actin polymerization and branch formation by tropomyosin. Curr Biol, Vol. 11, No. 16, pp. 1300-1304.

4. J.H. Iwasa and R.D. Mullins (2007). Spatial and temporal relationships between actin-filament nucleation, capping and disassembly. Curr Biol, Vol. 17, No. 5, pp. 395-406.

18.  Using QCLs for MIR-Based Spectral Imaging — Applications in Tissue Pathology

http://www.photonics.com/Article.aspx?PID=1&AID=57708

A quantum cascade laser (QCL) microscope allows for fast data acquisition, real-time chemical imaging and the ability to collect only spectral frequencies of interest. Due to their high-quality, highly tunable illumination characteristics and excellent signal-to-noise performance, QCLs are paving the way for the next generation of mid-infrared (MIR) imaging methodologies.

MICHAEL WALSH, UNIVERSITY OF ILLINOIS AT CHICAGO; MATTHEW BARRE & BENJAMIN BIRD, DAYLIGHT SOLUTIONS

H. Sreedhar*1, V. Varma*2, A. Graham3, Z. Richards1, F. Gambacorata4, A. Bhatt1,
P. Nguyen1, K. Meinke1, L. Nonn1, G. Guzman1, E. Fotheringham5, M. Weida5,
D. Arnone5, B. Mohar5, J. Rowlette5
Real-time, MIR chemical imaging microscopes could soon become powerful frontline screening tools for practicing pathologists. The ability to see differences in the biochemical makeup across a tissue sample greatly enhances a practioner’s ability to detect early stages of disease or disease variants. Today, this is accomplished much as it was 100 years ago — through the use of specially formulated stains and dyes in combination with white light microscopy. A new MIR, QCL-based microscope from Daylight Solutions enables real-time, nondestructive biochemical imaging of tissues without the need to perturb the sample with chemical or heat treatments, thus preserving the sample for follow-on fluorescence tagging, histochemical staining or other “omics” testing within the workflow.
MIR chemical imaging is a well-established absorbance spectroscopy technique; it senses the relative amount of light that molecules absorb due to their unique vibrational resonances falling within the MIR portion of the electromagnetic spectrum (i.e., wavelengths from approximately 2 to 15 µm). This absorption can be detected with a variety of MIR detector types and can provide detailed information about the sample’s chemical composition.

The most common instrument for this type of measurement is known as a Fourier transform infrared (FTIR) spectrometer. FTIR systems use a broadband MIR light source, known as a globar, to illuminate a sample; the absorption spectrum is generated by the use of interferometry. Throughout the past decade, FTIR systems have incorporated linear arrays and 2D focal plane arrays (FPAs) in a microscope configuration to enable a technique known as chemical imaging.

19.  Inner Ear Undertakers

Support cells in the inner ear respond differently to two drugs that kill hair cells.

By Kerry Grens | September 1, 2015

http://www.the-scientist.com//?articles.view/articleNo/43824/title/Inner-Ear-Undertakers/

The paper
E.L. Monzack et al., “Live imaging the phagocytic activity of inner ear supporting cells in response to hair cell death,” Cell Death Differ, doi:10.1038/cdd.2015.48, 2015.

Killer drugs
A number of commonly used medications can cause hearing loss by killing off cochlear hair cells, which translate sound waves into neural activity. To understand how they die, Lisa Cunningham and Elyssa Monzack of the National Institute on Deafness and Other Communication Disorders and colleagues turned to the utricle, a vestibular inner-ear structure involved with balance whose hair cells are very similar to those in the cochlea, which are notoriously resistant to culturing when mature.

Body bags
The team developed a method to watch hair cells of whole mouse utricles die in real time after exposure to the chemotherapy drug cisplatin or the antibiotic neomycin. In response to the latter, supporting cells, glia-like neighbors of hair cells, appeared to form a phagosome around the corpses and engulf them. “You can see two, three, sometimes four supporting cells advancing simultaneously on that hair cell corpse,” says Cunningham—which suggests that the dying cell is giving off a specific and local signal.

Spilled guts
In contrast, cisplatin-induced hair cell death provoked hardly any phagocytic reaction from supporting cells, about half of which themselves succumbed. Cunningham says this could have clinical implications if dead hair cells then spill their cytoplasmic contents into the tissue, which can result in an immune response that can cause even further damage.

Distress call
Mark Warchol of Washington University in St. Louis says it will be important to identify the signal supporting cells are responding to after neomycin treatment. “There’s some molecular signal by which the hair cell causes [supporting cells] to execute this process. And with cisplatin, they’re just not capable of doing it.”

Tags

utricle, sensory biology, phagocytosis, hearing, hair cell, ear, cell death and cell & molecular biology

20.  Inner Ear Cartography

Scientists map the position of cells within the organ of Corti.

By Ruth Williams | September 1, 2015

http://www.the-scientist.com//?articles.view/articleNo/43804/title/Inner-Ear-Cartography/

Age-related hearing loss caused by damage to the sensory hair cells within the cochlea is extremely common, but studying the inner ear is tough. “It’s in the densest bone in the body, so you don’t have access,” says John Brigande of Oregon Health and Science University in Portland. Even if you can extract cells, he says, “there are so darn few of them.”

Despite these technical difficulties, researchers have gleaned gene-expression information about different cell types within the organ of Corti—home to the sensory cells within the cochlea. But “it’s not only important to know what a cell expresses,” says Robert Durruthy-Durruthy, a postdoc in the Stanford University lab of Stefan Heller. “It’s also important to know where it can be found within a tissue.”

To this end, Durruthy-Durruthy, Heller, and postdoc Jörg Waldhaus have derived a 2-D map of organ of Corti cells from neonatal mice. First, the team sorted all cell types across the medial-to-lateral axis (or width) of the organ based on marker gene expression. The approximately 900 sorted cells, representing nine cell types, were then each quantitatively analyzed for the expression of 192 selected genes. Computational analysis of these expression data then enabled reconstruction of the cells’ positions along the organ’s apical-to-basal (length) and medial-to-lateral axes. In principle, the technique, which harnesses gene-expression information to determine cells’ spatial organization, could be applied to generate 2-D maps of any complex tissue, says Durruthy-Durruthy.

Within the mammalian cochlea, apical cells retain regenerative capacity for a few weeks after birth, but basal cells do not. “Spatial mapping allows us to get at the differences [between these cells],” says Brigande, and that could ultimately highlight possible ways to reinstate regeneration in the adult ear. (Cell Reports, 11:1385-99, 2015)

  FROM ORGAN TO SINGLE CELLS: To build a map of cells within the organ of Corti—where sound is translated to neural activity—scientists divide the cochlea in two. Each half of the organ of Corti is then broken up into its constituent cells, which comprise nine cell types (represented by the nine colors) spanning the organ’s edial-to-lateral axis.

http://www.the-scientist.com/images/August2015/MO_11.jpg

21.  Resveratrol Stabilizes Amyloid in Alzheimer’s

Pauline Anderson

September 17, 2015

http://www.medscape.com/viewarticle/851172?

High doses of purified resveratrol, a polyphenol found in some foods, appear to stabilize levels of amyloid beta (Aβ) in cerebrovascular fluid (CSF) and in plasma in patients with mild to moderate Alzheimer disease (AD) and are safe and well tolerated, a new phase 2 study has shown.

Although it is too soon to start recommending resveratrol supplements to patients, the research indicates that this compound is safe and is promising, lead author R. Scott Turner, MD, PhD, professor, Neurology, and director of the Memory Disorders Program, Georgetown University Medical Center, Washington, DC, one of 21 medical centers across the United States participating in the study.

“It seems to have some interesting effects, enough to justify further research into this strategy,” he told Medscape Medical News.

The study was published online September 11 as an Open Access article in Neurology.

Natural Compound

Resveratrol is a naturally occurring compound found in red grapes, red wine, dark chocolate, and some other foods, and is widely available as a supplement.

It is believed that resveratrol promotes resilience to stress, as levels increase in plants exposed to severe cold or to fungus, said Dr Turner. Animal research suggests that resveratrol may affect sirtuins, which are proteins that are activated with calorie restriction, which is a form of mild stress.

The study included 119 patients randomly assigned to either high doses of pure synthetic pharmaceutical grade resveratrol that is not available commercially (n = 64) or placebo (n = 55). The resveratrol used in the study was introduced at a dose of 500 mg a day and was increased every 3 months, so that by the end of the 1-year study, subjects were taking 2000 mg a day.

Results showed that at 1 year, the treated group’s levels of Aβ40 in CSF declined from 6574 to 6513 ng/mL, but in the placebo group, these levels went from 6560 to 5622 ng/mL, for a statistical difference at week 52 (P = .002).

This difference was also found in secondary analyses of study completers, in the mild dementia subgroup, and in APOE4 carriers and noncarriers.

The treated group’s Aβ40 levels in plasma declined from 163 to 153 ng/mL, and in the placebo group, these levels went from 165 to 132 ng/mL (for a statistical difference; P = .024).

“We can’t prove efficacy from this trial, but we’re looking for some movement in biomarkers, and we actually found that,” which is promising, said Dr Turner. “The major movement we found was in amyloid proteins in blood and CSF that were stabilized by resveratrol treatment compared to placebo, where it trended downhill, which is what happens with Alzheimer’s disease.”

This downhill trend could signal more amyloid being deposited into the brain. In contrast, that resveratrol seemed to stabilize Aβ40 in the CSF and plasma suggests the drug was able to penetrate the blood–brain barrier.

Unfortunately, said Dr Turner, the study could not fund amyloid positron emission tomography scans, which might have shed more light on the Aβ status of subjects.

Although there were no significant effects of the treatment on other amyloid biomarkers, including CSF and plasma Aβ42, trends were similar to the findings with Aβ40.

There was no difference in CSF tau. There was a trend toward an increase in CSF phospho-tau 181 with treatment (P = .08) and in secondary analysis of mild dementia (P = .047).

As for brain volume determined through magnetic resonance imaging (MRI), results showed that volumes declined more in the treatment group (going from 866 to 839 mL) than in the placebo group (going from 850 to 840 mL). This result was “mysterious” and “unexpected,” said Dr Turner.

However, he noted that the same effect has been reported in other AD trials, including those investigating immunotherapy. “The working hypothesis is that by treating AD, we are also decreasing the amount of inflammation and swelling in the brain.”

The study showed no significant effects on the mini mental state exam or on other clinical scales, but the researchers note that the phase 2 trial was not powered to detect differences in clinical outcomes.

However, they did find that the activities of daily living scale declined less in the resveratrol group than in the placebo group. “That’s also promising, because even with this phase 2, we are seeing what we think might be a clinical benefit,” said Dr Turner

A total of 657 adverse events were reported (355 in the treatment and 302 in the placebo groups), most of which were mild. The most common adverse events were gastrointestinal-related and included nausea and diarrhea.

Weight Loss

The placebo group gained about 1 pound of body weight, whereas the treated group lost almost 2 pounds. At the end of the study, the mean body mass index in the placebo group was 26.1, and in the treated group, it was 25.4.

“The weight loss is concerning, because Alzheimer disease itself causes weight loss, and we don’t want people to continue to lose weight,” said Dr Turner.

It is not clear whether the weight loss was a result of the adverse effects of diarrhea, nausea, and so on, or because of some metabolic effect.

Interestingly, six of the seven new neoplasms seen in study participants occurred in those taking placebo. This is of great interest to cancer researchers, said Dr Turner, adding that resveratrol and similar compounds are being tested in many age-related disorders, including diabetes and neurodegenerative disorders, as well as AD and cancer.

None of the 36 serious adverse events (19 on the drug and 17 on placebo), including three deaths, were deemed to be related to treatment.

Commenting on this study for Medscape Medical News, James Hendrix, PhD, director, Global Science Initiatives, Alzheimer’s Association, said that although the finding that resveratrol might stabilize Aβ40 is encouraging, the study needs to be followed up with a larger and longer phase 3 trial.

“The main focus of this study, and the main question it addressed, was whether a dose at such a high level is safe, and with the exception of some [gastrointestinal] discomfort for some people, it appears to be mostly safe.”

Dr Hendrix noted that the high dose used in the study is equivalent to 1000 bottles of red wine.

He pointed out that the study was relatively small, with 56 subjects completing the study in the treatment group, and only 48 in the placebo group.

The research was supported by a grant from the National Institute on Aging. Dr Turner reports no personal financial interests related to the study. Dr Hendrix is an employee of the Alzheimer’s Association, which has funded resveratrol grants in the past, but did not fund this study.

Neurology. Published online September 11, 2015. Full text

http://www.neurology.org/content/early/2015/09/11/WNL.0000000000002035.full.pdf

A randomized, double-blind, placebo-controlled trial of resveratrol for Alzheimer disease ABSTRACT Objective: A randomized, placebo-controlled, double-blind, multicenter 52-week phase 2 trial of resveratrol in individuals with mild to moderate Alzheimer disease (AD) examined its safety and tolerability and effects on biomarker (plasma Ab40 and Ab42, CSF Ab40, Ab42, tau, and phospho-tau 181) and volumetric MRI outcomes (primary outcomes) and clinical outcomes (secondary outcomes). Methods: Participants (n 5 119) were randomized to placebo or resveratrol 500 mg orally once daily (with dose escalation by 500-mg increments every 13 weeks, ending with 1,000 mg twice daily). Brain MRI and CSF collection were performed at baseline and after completion of treatment. Detailed pharmacokinetics were performed on a subset (n 5 15) at baseline and weeks 13, 26, 39, and 52. Results: Resveratrol and its major metabolites were measurable in plasma and CSF. The most common adverse events were nausea, diarrhea, and weight loss. CSF Ab40 and plasma Ab40 levels declined more in the placebo group than the resveratrol-treated group, resulting in a significant difference at week 52. Brain volume loss was increased by resveratrol treatment compared to placebo. Conclusions: Resveratrol was safe and well-tolerated. Resveratrol and its major metabolites penetrated the blood–brain barrier to have CNS effects. Further studies are required to interpret the biomarker changes associated with resveratrol treatment. Classification of evidence: This study provides Class II evidence that for patients with AD resveratrol is safe, well-tolerated, and alters some AD biomarker trajectories. The study is rated Class II because more than 2 primary outcomes were designated. Neurology® 2015;85:1–9

Caloric restriction prevents aging-dependent phenotypes1 and activates sirtuins (including SIRT1), a highly conserved family of deacetylases that are regulated by NAD1/NADH and thus link energy metabolism to gene expression.2 SIRT1 substrates include FOXO and PGC- 1a. 3 A screen of SIRT1 activators identified resveratrol (trans-3,49,5-trihydroxystilbene) as a potent compound.4 Similar to caloric restriction,5,6 resveratrol decreases aging-dependent cognitive decline and pathology in Alzheimer disease (AD) animal models.7,8

Resveratrol is under investigation to prevent age-related disorders including cancer, diabetes mellitus, and neurodegeneration.4,9–12 Due to its low bioavailability but high bioactivity,13,14 we increased the dose to the maximal amount considered safe and well-tolerated for this study.15 We conducted a randomized, placebocontrolled, double-blind, multicenter 52- week phase 2 trial of resveratrol in individuals with mild to moderate AD. The primary objectives were to (1) assess the safety and tolerability of resveratrol; (2) assess effect on plasma and CSF Ab42 and Ab40, CSF tau and phospho-tau 181, and volumetric MRI; and (3) examine pharmacokinetics. The secondary objectives were to (1) explore the effects of resveratrol on cognitive, functional, and behavioral outcomes; (2) examine the influence of APOE genotype; and (3) determine whether resveratrol affects insulin and glucose metabolism. We hypothesized that resveratrol would alter AD biomarker trajectories.

RESULTS A total of 179 participants were screened, of whom 60 were not randomized (50 screen-failed and 10 withdrew consent). Participants (119) were randomized as shown (figure 1). A total of 104 completed the study (12.6% dropout), and 77 completed 2 CSF collections (34% dropout). Eighteen participants discontinued treatment early and 15 discontinued the study. The population was English-speaking, 57% female, and 91% Caucasian.

Safety and tolerability. No differences between the resveratrol and placebo-treated groups were found on vital signs, physical examinations, or neurologic examinations. Routine laboratory tests were normal. A total of 657 AEs (490 mild, 139 moderate, 28 severe) were reported (355 on drug, 302 on placebo) (table 2). A total of 113 out of 119 (95%) participants reported at least 1 AE. The most common AEs were nausea and diarrhea (in 42% of individuals with drug vs 33% with placebo, p 5 0.35). Few participants reported nausea and diarrhea—the most likely drug-related AE—that led to treatment discontinuation, a treatment plateau at a lower dosage, or study discontinuation (figure 1). The placebo group gained 0.54 6 3.2 kg body weight, while the treated group lost 0.92 6 4.9 kg (mean 6 SD, p 5 0.038) resulting in a difference in body mass index (BMI). The treated group’s BMI was 25.4 6 4.0 vs the placebo group’s 26.1 6 4.1 at week 52 (mean 6 SD, p 5 0.047). Thirty-six serious AEs (SAEs) were reported (19 on drug, 17 on placebo) including 27 hospitalizations (14 on drug, 13 on placebo) and 3 deaths (1 on drug, 2 on placebo)—none study drug-related. There were no differences in participants who experienced at least one SAE (20.3% on drug, 18.2% on placebo), at least one hospitalization (18.8% drug, 16.4% placebo), or died (1.6% drug, 3.6% placebo). Seven new neoplasms were reported (1 on drug, 6 on placebo, p , 0.048) (table 2). Retrospective review of the brain MRIs of a placebo-enrolled participant with malignant glioma, which resulted in death, revealed that the tumor was present at screening. Two participant deaths were due to lung melanoma (placebo group) and drowning (drug group).

AD duration (from year of symptom onset), y, mean (SD)      Resv 3.9 (2.3)        Placebo 5.5 (2.6)     <0.001

Outcomes. At week 52, the treated group’s CSF Ab40 declined from 6,574 6 2,346 to 6,513 6 2,279 ng/mL and from 6,560 6 2,190 to 5,622 6 1,736 ng/mL with placebo, resulting in a difference at week 52 (mean 6 SD, p 5 0.002) (figure 2A). This difference was also found in secondary analyses of study completers (p 5 0.002), in the mild dementia subgroup (p 5 0.01), and in APOE4 carriers (p 5 0.05) and noncarriers (p 5 0.01) (table e-2). During the study, the treated group’s plasma Ab40 (figure 2B) declined from 163 6 58 to 153 6 54 ng/mL and from 165 6 55 to 132 6 54 ng/mL with placebo (mean 6 SD, p 5 0.024). Secondary analyses by APOE4 genotype revealed an effect of treatment on plasma Ab40 in APOE4 carriers (p 5 0.04) but not noncarriers (table e-2). There were no effects on CSF Ab42 or plasma Ab42 (figure 2, C and D), although trends were similar to Ab40. There was no difference in CSF tau and a trend toward an increase in CSF phospho-tau 181 with treatment (p 5 0.08), and in a secondary analysis of mild dementia (p 5 0.047) (data not shown). Volumetric MRIs revealed that brain volume (excluding CSF, brainstem, and cerebellum) declined more in the treatment group (p 5 0.025) with an increase in ventricular volume (p 5 0.05) at week 52 (figure 3, A and B). In the treatment group, brain volume decreased from 866 6 84 to 839 6 85 mL and ventricular volume increased from 55 6 24 to 81 6 24 mL (mean 6 SD). With placebo, brain volume decreased from 850 6 99 to 840 6 93 mL and ventricular volume increased from 56 6 19 to 76 6 25 mL (mean 6 SD). Secondary analyses revealed that brain volume declined with treatment in APOE4 carriers (p 5 0.02) but not noncarriers (table e-2). Similar results were found with ventricular volume, which increased with treatment in APOE4 carriers (p 5 0.05) but not noncarriers. This phase 2 trial (underpowered to detect differences in clinical outcomes) found no significant effects on CDR-SOB, ADAS-cog, MMSE, or NPI. The drugtreated group’s ADCS-ADL declined from 63.7 6 10.8 to 57.4 6 12.3 and from 60.5 6 10.7 to 51.3 6 14.5 in the placebo group (mean 6 SD, p 5 0.03), indicating less decline with treatment. No drug effects were found with plasma glucose or insulin metabolism (data not shown). We also analyzed (post hoc) the subset of individuals with CSF Ab42 ,600 ng/mL at baseline as a proxy of AD amyloid pathology. At week 52, differences between treatment groups persisted for CSF Ab40 (p 5 0.001, total n 5 70) and plasma Ab40 (p 5 0.02, n 5 83). In this analysis, we also found a treatment effect on CSF Ab42 (p 5 0.02, n 5 70) but lost significance in brain volume loss (p 5 0.06, n 5 83) and ADCSADL (p 5 0.055, n 5 88).

DISCUSSION High-dose oral resveratrol is safe and well-tolerated. The most common AEs were nausea and diarrhea, but results were similar to placebo. Weight and fat loss with resveratrol are reported in some preclinical studies,4 but human studies are scarce and of shorter duration. A decrease in body fat and a trend toward weight loss were reported in a 26- week trial with 200 mg/day resveratrol in healthy older participants.33 Weight and fat loss may be related to enhanced mitochondrial biogenesis mediated by SIRT1 activation of PCG-1a. 4,10,11 Ab levels declined as dementia advanced. The altered CSF Ab40 trajectory suggests that the drug penetrated the blood–brain barrier to have central effects. At week 52, the mean CSF levels of resveratrol, 3G-RES, 4G-RES, and S-RES were 3.3%, 0.4%, 0.4%, and 0.3%, respectively, of plasma levels at the same study visit. At the highest dosage, low mM levels of resveratrol and its metabolites were measured in plasma, with corresponding low nM levels found in CSF. Resveratrol has many targets, with some engaged at uM concentrations.4 These findings suggest that a central molecular target may be engaged at nM concentrations. In addition to anti-inflammatory, antioxidant, and anti-Ab aggregation, putative targets include sirtuin activation with enhanced a-cleavage of amyloid precursor protein34 and promotion of autophagy.35 Further studies of banked CSF, plasma, pellets, DNA, and blood mononuclear cells from participants will examine mechanisms.

Resveratrol treatment increased brain volume loss. This finding persisted when participants with weight loss (table 2) were excluded (data not shown). The etiology and interpretation of brain volume loss observed here and in other studies are unclear, but they are not associated with cognitive or functional decline. In the first human active Ab immunization trial, antibody responders had greater brain volume loss, and greater volumetric changes were associated with higher antibody titers.36 In the phase 2 bapineuzumab trial, treatment resulted in greater ventricular enlargement, but only in APOE4 carriers.37 In the phase 3 bapineuzumab APOE4 carrier trial and the high-dose noncarrier study, treatment resulted in a trend toward greater brain atrophy.38 Since this phase 2 study lacks consistent changes in clinical outcomes, interpretation of the effects on trajectories for plasma and CSF Ab40, and brain and ventricular volume, remain uncertain.

Resveratrol altered levels of CSF Ab40 (A) and plasma Ab40 (B) (ng/mL, mean 6 SE). Similar but nonsignificant trends were found for CSF Ab42 (C) and plasma Ab42 (D) (ng/mL, mean 6 SE). Note difference in scales. Sample sizes are indicated.

Resveratrol increased brain volume loss (A, C) (mL, mean 6 SE) with a corresponding increase in ventricular volume (B, D) (mL, mean 6 SE). Sample sizes are indicated.

This phase 2 study has limitations. It was designed to determine the safety and tolerability of resveratrol and to examine pharmacokinetics. Although some biomarker trajectories were altered, we found no effects of drug treatment on plasma Ab42, CSF Ab42, CSF tau, CSF phospho-tau 181, hippocampal volume, entorhinal cortex thickness, MMSE, CDR, ADAS-cog, NPI, or glucose or insulin metabolism. The altered biomarker trajectories must be interpreted with caution. Although they suggest CNS effects, they do not indicate benefit.

22.  Miniature VHS Solenoid Valves Play Significant Role in the Viability of 3D Bio-Printing of Human Cells  

The rapid development of viable inkjet technology for highly specialised applications, such as printing human cells, continues to generate significant interest. If successful, the realisation of this technology for specialised biological applications, generally known as ‘biofabrication’, has the potential to replace the long established (and often controversial) process of using animals for testing new drugs. However, there are many challenges to overcome to enable the successful production of a valve-based cell printer for the formation of human embryonic stem cell spheroid aggregates. For example, printing techniques need to be developed which are both controllable and less harmful to the process of preserving human cell tissue viability and functions.

One particular cell printing project at an advanced stage and which has benefitted from the features and benefits of Lee Products miniature VHS solenoid valves and nozzles, is the result of pioneering activities at Edinburgh’s Heriot-Watt University. Dr Will Shu at the University’s Biomedical micro-engineering Group and his colleagues, including Alan Faulkner-Jones a bioengineering PhD student have successfully developed a bio-printer which has been demonstrated at the 3D Print show in London. Also involved in the development of the bio-printer are specialists at Roslin Cellab in Midlothian, a leading stem cell technology company.

The valve based bio-printer has been validated to print highly viable cells in programmable patterns from two different bio-inks with independent control of the volume of each droplet (with a lower limit of 2nL or fewer than five cells per droplet). Human ESC’s (Embryonic Stem Cells) were used to make spheroids by overprinting two opposing gradients of bio-ink; one of hESC’s in medium and the other of medium alone.
The resulting array of uniform sized droplets with a gradient of cell concentrations was inverted to allow cells to aggregate and form spheroids via gravity.
The resulting aggregates have controllable and repeatable sizes and consequently they can be made to order for specific applications. Spheroids with between 5 and 140 dissociated cells resulted in spheroids of 0.25-0.6 mm diameter. The success of the bio-printer demonstrates that a valve based printing process is gentle enough to maintain stem cell viability, accurate enough to produce spheroids of uniform size and that printed cells maintain their pluripotency.
Looking closer at the design of the bio-printer platform reveals two dispensing systems, each comprising a Lee VHS Nanolitre solenoid dispensing valve with a Teflon coated 101.6 µm internal diameter Lee Minstac nozzle controlled by a Arduino microcontroller. Each dispensing system is attached to a static pressure reservoir for the bio-ink solution to be dispensed via flexible tubing. The dispensing system and bio-ink reservoirs are mounted within a custom-built enclosure on the tool head of a micrometer-resolution 3-axis 3d printing platform (High-Z S-400, CNC Step) and controlled by a customized CNC controller (based on G540, Geokodrives).

A relatively larger nozzle diameter (compared to the size of the cells that are printed) was selected to reduce the amount of shear stress that could be experienced by the cells during the dispensing process. The bio-ink reservoirs were kept as close as possible to the valves in order to minimise the amount of time it would take to charge the system with bio-ink and to purge it at the end of the experiment. A USB microscope is also included to enable visual inspection of the target substrate during the printing process. Due to the type of deposition system used, a direct line of sight view through the nozzle is not possible and therefore the USB microscope is mounted at an offset angle from the cell deposition system assemblies.
Commenting on the development of the bio-printer and the vital role played by Lee Product’s VHS solenoid valves, Dr Will Shu at Heriot-Watt University said: “Printing living cells is extremely challenging and to the best of our knowledge, this is the first time that these cells have been 3D printed. The technique will allow us to create more accurate human tissue models which are essential to in-vitro drug development and toxicity testing and since the majority of drug discovery is targeting human disease, it makes sense to use human tissues.
”The development of the bio-printer has taken many years of effort and we are very pleased with the performance of Lee’s VHS solenoid valves, they are a vital component within the bio-printer printhead and we recommend them to our colleagues working on similar projects.”
Dr Shu added, “We also acknowledge the support and interaction from our contacts at Lee Products which has helped us to overcome the challenges of this project.”
This highly specialised application is an excellent example of the performance of Lee’s range of VHS Micro-Dispense Solenoid Valves which provide precise, repeatable, non-contact dispensing of fluids in the nanolitre to microlitre range. The valves feature a number of port configurations to facilitate quick and convenient connections to Lee’s 062 MINSTAC fittings and press-on tubing. The 062 MINSTAC outlet port can be used with Lee 062 MINSTAC tubing or atomising nozzles. Custom configurations and voltages are also available to suit specific applications.

https://www.labmate-online.com/articles/laboratory-products/3/dr_will_shu_and_alan_faulkner-jones/miniature_vhs_solenoid_valves_play_significant_role_in_the_viability_of_3d_bio-printing_of_human_cells_/1833/#sthash.IbWGZ7fU.Maild7vy.dpuf

23. NEW MITOCHONDRIA-BASED INSULIN AMPLIFIER PATHWAY IDENTIFIED IN T2 DIABETES.

http://health-innovations.org/2015/09/23/new-mitochondria-based-insulin-amplifier-pathway-identified-in-t2-diabetes/

Posted on September 23, 2015 by Healthinnovations

Ten million Canadians are living with diabetes or pre-diabetes. The Canadian Diabetes Association reports that more than 20 Canadians are newly diagnosed with the disease every hour of every day. It is also the seventh leading cause of death in Canada, with associated health-care costs estimated at nearly $9 billion a year. Type 2 diabetes accounts for 90 per cent of all cases, increasing the risk of blindness, nerve damage, stroke, heart disease and several other serious health conditions.

Insulin secretion from β cells of the pancreatic islets of Langerhans is impaired in type 2 diabetes (T2D).  Evidence suggests that this metabolic amplification of insulin secretion occurs distally in the secretory pathway, possibly at the calcium dependent exocytotic site.  Therefore the regulation or amplification of insulin is an important target for researchers around the world

Now, researchers from the University of Alberta have identified a new molecular pathway that manages the amount of insulin produced by the pancreatic cells, essentially a ‘dimmer’ switch that adjusts how much or how little insulin is secreted when blood sugar increases.  The team state that the dimmer appears to be lost in Type 2 diabetes, however, it can be restored and ‘turned back on’, reviving proper control of insulin secretion from islet cells of people with Type 2 diabetes.  The opensource study is published in the Journal of Clinical Investigation.

Previous studies show that the canonical mechanism of glucose-stimulated insulin secretion involving increases in metabolism-derived ATP, inhibition of KATP channels, and activation of VDCCs was first introduced more than 30 years ago and remains as a cornerstone mechanism for the triggering of insulin secretion’.  The KATP channel mechanism does not define the entire secretory response with multiple metabolic coupling intermediates proposed as factors that amplify the secretory response to a Ca2+exocytosis-based signal, with the net export of mitochondrial substrates being of great interest.

The current study examined pancreatic islet cells from 99 human organ donors.  Results show that the glucose-dependent amplification of exocytosis in human β cells, which is disrupted in type 2 diabetes, requires isocitrate flux through mitochondrial export which generates cytosolic NADPH and GSH. These then act through SENP1 to amplify the exocytosis of insulin, thereby controlling glucose homeostasis.  The lab then validated these data findings in a transgenic animal model.

The researchers state that the discovery is a potential game-changer in Type 2 diabetes research, leading to a new way of thinking about the disease and its future treatment.  The go on to add that understanding the islet cells in the pancreas that make insulin, how they work, and how they can fail, could lead to new ways to treat the disease, delaying or even preventing diabetes.

The team surmise that although the ability to restore and fix the dimmer switch in islet cells may have been proven on a molecular level, finding a way to translate those findings into clinical use could yet take decades. Despite this the group conclude that the findings show an important new way forward.

Source: University of Alberta

https://michellepetersen76.files.wordpress.com/2015/09/identifying-the-dimmer-switch-of-diabetes-healthinnovations.jpg?w=860

Pancreatic islet–specific knockout of Senp1 blunts insulin secretion due to an impaired amplification of exocytosis. Proposed pathway linking mitochondrial export of (iso)citrate, glutathione biosynthesis (blue), and glutathione reduction (orange) pathways to the amplification of insulin exocytosis (yellow). Isocitrate-to-SENP1 signaling amplifies insulin secretion and rescues dysfunctional β cells. MacDonald et al 2015.

24.  Nanotechnology
http://www.nano.gov/nanotech-101/what/definition

Nanotechnology is science, engineering, and technology conducted at the nanoscale, which is about 1 to 100 nanometers.

Physicist Richard Feynman, the father of nanotechnology.

Nanoscience and nanotechnology are the study and application of extremely small things and can be used across all the other science fields, such as chemistry, biology, physics, materials science, and engineering.

The ideas and concepts behind nanoscience and nanotechnology started with a talk entitled “There’s Plenty of Room at the Bottom” by physicist Richard Feynman at an American Physical Society meeting at the California Institute of Technology (CalTech) on December 29, 1959, long before the term nanotechnology was used. In his talk, Feynman described a process in which scientists would be able to manipulate and control individual atoms and molecules. Over a decade later, in his explorations of ultraprecision machining, Professor Norio Taniguchi coined the term nanotechnology. It wasn’t until 1981, with the development of the scanning tunneling microscope that could “see” individual atoms, that modern nanotechnology began.

Medieval stained glass windows are an example of  how nanotechnology was used in the pre-modern era. (Courtesy: NanoBioNet)

It’s hard to imagine just how small nanotechnology is. One nanometer is a billionth of a meter, or 10-9 of a meter. Here are a few illustrative examples:

  • There are 25,400,000 nanometers in an inch
  • A sheet of newspaper is about 100,000 nanometers thick
  • On a comparative scale, if a marble were a nanometer, then one meter would be the size of the Earth

Nanoscience and nanotechnology involve the ability to see and to control individual atoms and molecules. Everything on Earth is made up of atoms—the food we eat, the clothes we wear, the buildings and houses we live in, and our own bodies.

But something as small as an atom is impossible to see with the naked eye. In fact, it’s impossible to see with the microscopes typically used in a high school science classes. The microscopes needed to see things at the nanoscale were invented relatively recently—about 30 years ago.

Once scientists had the right tools, such as the scanning tunneling microscope (STM) and the atomic force microscope (AFM), the age of nanotechnology was born.

Although modern nanoscience and nanotechnology are quite new, nanoscale materials were used for centuries. Alternate-sized gold and silver particles created colors in the stained glass windows of medieval churches hundreds of years ago. The artists back then just didn’t know that the process they used to create these beautiful works of art actually led to changes in the composition of the materials they were working with.

Today’s scientists and engineers are finding a wide variety of ways to deliberately make materials at the nanoscale to take advantage of their enhanced properties such as higher strength, lighter weight, increased control of light spectrum, and greater chemical reactivity than their larger-scale counterparts.

http://www.nano.gov/node/1415

Education and workforce development are critical to the advancement of nanotechnology and are encompassed within one of the four goals of the National Nanotechnology Initiative (NNI): “Develop and sustain educational resources, a skilled workforce, and a dynamic infrastructure and toolset to advance nanotechnology.” As new knowledge is created through exploratory research and development, it is a challenge to translate this understanding into the educational system and to the broader public. Over the past fifteen years of the NNI, there have been several activities that have made significant contributions in this area: public outreach and informal education by the NSF Nanoscale Informal Science Education  Network (NISE Net) through programs such as NanoDays; technician and workforce training through programs such as the NSF Advanced Technological Education Centers including the Nanotechnology Applications and Career Knowledge (NACK) Network; countless university courses and degree programs; and the emerging incorporation of nanoscience into the K-12 science education standards in states such as Virginia. To build upon this strong foundation, several announcements were made last week at the White House Forum on Small Business Challenges to Commercializing Nanotechnology including the establishment of a Nano and Emerging Technologies Student Leaders conference, a webinar series focused on providing information for teachers, and a web portal of nanoscale science and engineering educational resources.  – See more at: http://www.nano.gov/node/1415#sthash.fw1tMPiU.dpuf

25.  Antimicrobial film for future implants

http://www.nanowerk.com/news2/biotech/newsid=41408.php

(Nanowerk News) The implantation of medical devices is not without risks. Bacterial or fungal infections can occur and the body’s strong immune response may lead to the rejection of the implant. Researchers at Unit 1121 “Biomaterials and Bio-engineering” (Inserm/Strasbourg university) have succeeded in creating a biofilm with antimicrobial, antifungal and anti-inflammatory properties. It may be used to cover titanium implants (orthopaedic prostheses, pacemakers…) prevent or control post-operative infections. Other frequently used medical devices that cause numerous infectious problems, such as catheters, may also benefit.
These results are published in the journal Advanced Healthcare Materials (“Harnessing the Multifunctionality in Nature: A Bioactive Agent Release System with Self-Antimicrobial and Immunomodulatory Properties”).

26.  Characterizing the forces that hold everything together: UMass Amherst physicists offer new open source calculations for molecular interactions

http://www.nanotech-now.com/news.cgi?story_id=52274

UMass Amherst physicists, with others, provide a new software tool and database to help materials designers with the difficult calculations needed to predict the magnitude of van der Waals interactions between anisotropic or directionally dependent bodies such as those illustrated, with long-range torques. Though small, these forces are dominant on the nanoscale.

CREDIT: UMass Amherst

Abstract:
As electronic, medical and molecular-level biological devices grow smaller and smaller, approaching the nanometer scale, the chemical engineers and materials scientists devising them often struggle to predict the magnitude of molecular interactions on that scale and whether new combinations of materials will assemble and function as designed.

Characterizing the forces that hold everything together: UMass Amherst physicists offer new open source calculations for molecular interactions

Amherst. MA | Posted on September 23rd, 2015

This is because the physics of interactions at these scales is difficult, say physicists at the University of Massachusetts Amherst, who with colleagues elsewhere this week unveil a project known as Gecko Hamaker, a new computational and modeling software tool plus an open science database to aid those who design nano-scale materials.

In the cover story in today’s issue of Langmuir, Adrian Parsegian, Gluckstern Chair in physics, physics doctoral student Jaime Hopkins and adjunct professor Rudolf Podgornik on the UMass Amherst team report calculations of van der Waals interactions between DNA, carbon nanotubes, proteins and various inorganic materials, with colleagues at Case Western Reserve University and the University of Missouri who make up the Gecko-Hamaker project team.

To oversimplify, van der Waals forces are the intermolecular attractions between atoms, molecules, surfaces, that control interactions at the molecular level. The Gecko Hamaker project makes available to its online users a large variety of calculations for nanometer-level interactions that help to predict molecular organization and evaluate whether new combinations of materials will actually stick together and work.

In this work supported by the U.S. Department of Energy, Parsegian and colleagues say their open-science software opens a whole range of insights into nano-scale interactions that materials scientists haven’t been able to access before.

Parsegian explains, “Van der Waals forces are small, but dominant on the nanoscale. We have created a bridge between deep physics and the world of new materials. All miniaturization, all micro- and nano-designs are governed by these forces and interactions, as is behavior of biological macromolecules such as proteins and lipid membranes. These relationships define the stability of materials.”

He adds, “People can try putting all kinds of new materials together. This new database and our calculations are going to be important to many different kinds of scientists interested in colloids, biomolecular engineering, those assembling molecular aggregates and working with virus-like nanoparticles, and to people working with membrane stability and stacking. It will be helpful in a broad range of other applications.”

Podgornik adds, “They need to know whether different molecules will stick together or not. It’s a complicated problem, so they try various tricks and different approaches.” One important contribution of Gecko Hamaker is that it includes experimental observations seemingly unrelated to the problem of interactions that help to evaluate the magnitude of van der Waals forces.

Podgornik explains, “Our work is fundamentally different from other approaches, as we don’t talk only about forces but also about torques. Our methodology allows us to address orientation, which is more difficult than simply describing van der Waals forces, because you have to add a lot more details to the calculations. It takes much more effort on the fundamental level to add in the orientational degrees of freedom.”

He points out that their methods also allow Gecko Hamaker to address non-isotropic, or non-spherical and other complex molecular shapes. “Many molecules don’t look like spheres, they look like rods. Certainly in that case, knowing only the forces isn’t enough. You must calculate how torque works on orientation. We bring the deeper theory and microscopic understanding to the problem. Van der Waals interactions are known in simple cases, but we’ve taken on the most difficult ones.”

Hopkins, the doctoral student, notes that as an open-science product, Gecko Hamaker’s calculations and data are transparent to users, and user feedback improves its quality and ease of use, while also verifying the reproducibility of the science.

####

For more information, please click here

Contacts:
Janet Lathrop
jlathrop@admin.umass.edu
413-545-0444

27.  Researchers have succeeded in creating a biofilm with antimicrobial, antifungal and anti-inflammatory properties. (Image: Inserm / E.Falett)
Implantable medical devices (prosthesis/pacemakers) are an ideal interface for micro-organisms, which can easily colonize their surface. As such, bacterial infection may occur and lead to an inflammatory reaction. This may cause the implant to be rejected. These infections are mainly caused by bacteria such as Staphylococcus aureus, originating in the body, and Pseudomonas aeruginosa. These infections may also be fungal or caused by yeasts. The challenge presented by implanting medical devices in the body is preventing the occurrence of these infections, which lead to an immune response that compromises the success of the implant. Antibiotics are currently used during surgery or to coat certain implants. However, the emergence of multi-resistant bacteria now restricts their effectiveness.
A biofilm invisible to the naked eye…
It is within this context that researchers at the “Bioengineering and Biomaterials” Unit 1121 (Inserm/Strasbourg University) with four laboratories1 have developed a biofilm with antimicrobial and anti-inflammatory properties. Researchers have used a combination of two substances: polyarginine (PAR) and hyaluronic acid (HA), to develop and create a film invisible to the naked eye (between 400 and 600 nm thick) that is made of several layers. As arginine is metabolised by immune cells to fight pathogens, it has been used to communicate with the immune system to obtain the desired anti-inflammatory effect. Hyaluronic acid, a natural component of the body, was also chosen for its biocompatibility and inhibiting effect on bacterial growth.
…with embedded antimicrobial peptides,
The film is also unique due to the fact that it embeds natural antimicrobial peptides, in particular catestatin, to prevent possible infection around the implant. This is an alternative to the antibiotics that are currently used. As well as having a significant antimicrobial role, these peptides are not toxic to the body that they are secreted into. They are capable of killing bacteria by creating holes in their cellular wall and preventing any counter-attack on their side.
…on a thin silver coating,
In this study researchers show that poly(arginine), associated with hyaluronic acid, possesses microbial activity against Staphylococcus aureus (S. aureus) for over 24 hours. “In order to prolong this activity, we have placed a silver-coated precursor before applying the film. Silver is an anti-infectious material currently used on catheters and dressings. This strategy allows us to extend antimicrobial activity in the long term” explains Philippe Lavalle, Research Director at Inserm.
…effectively reducing inflammation, preventing and controlling infection
The results from numerous tests performed on this new film shows that it reduces inflammation and prevents the most common bacterial and fungal infections.
On the one hand, researchers demonstrate, through contact with human blood, that the presence of the film on the implant suppresses the activation of inflammatory markers normally produced by immune cells in response to the implant. Moreover, “the film inhibits the growth and long-term proliferation of staphylococcal bacteria (Staphylococcus aureus), yeast strains (Candida albicans) or fungi (Aspegillus fumigatus) that frequently cause implant-related infection” emphasises Philippe Lavalle.
Researchers conclude that this film may be used in vivo on implants or medical devices within a few years to control the complex microenvironment surrounding implants and to protect the body from infection.
Source: INSERM (Institut national de la santé et de la recherche médicale)

28.  Quantum dots light up under strain

http://www.nanotech-now.com/news.cgi?story_id=52274

Semiconductor nanocrystals, or quantum dots, are tiny, nanometer-sized particles with the ability to absorb light and re-emit it with well-defined colors. With low-cost fabrication, long-term stability and a wide palette of colors, they have become a building blocks of the display technology, improving the image quality of TV-sets, tablets, and mobile phones. Exciting quantum dot applications are also emerging in the fields of green energy, optical sensing, and bio-imaging.

Prospects have become even more appealing after a publication, entitled “Band structure engineering via piezoelectric fields in strained anisotropic CdSe/CdS nanocrystals,” was published in the journal Nature Communications last July. An international team, formed by scientists at the Italian Institute of Technology (Italy), the University Jaume I (Spain), the IBM research lab Zurich (Switzerland) and the University of Milano-Bicocca (Italy) demonstrated a radically new approach to manipulate the light emission of quantum dots.

The traditional operating principle of quantum dots is based on the so-called quantum confinement effect, where the particle size determines the color of the emitted light. The new strategy relies on a completely different physical mechanism; a strain induced electrical field inside the quantum dots. It is created by growing a thick shell around the dots. This way, researchers were able to compress the inner core, creating the intense internal electric field. This field now becomes the dominating factor in determining the emission properties.

The result is a new generation of quantum dots whose properties are beyond those enabled by quantum confinement alone. This not only broadens the application scope of the well-known CdSe/CdS material set but also of other materials. “Our findings add an important new degree of freedom to the development of quantum dot-based technological devices,” the researchers say. “For example, the elapsed time between light absorption and emission can be extended to be more than 100 times longer compared to conventional quantum dots, which opens the way towards optical memories and smart pixel new devices. The new material could also lead to optical sensors that are highly sensitive to the electrical field in the environment on the nanometer scale.”

Explore further: Resonant energy transfer from quantum dots to graphene

More information: “Band structure engineering via piezoelectric fields in strained anisotropic CdSe/CdS nanocrystals” Nat Commun. 2015 Jul 29; 6:7905. DOI: 10.1038/ncomms8905

Journal reference: Nature Communications

Read more at: http://phys.org/news/2015-09-quantum-dots-strain.html#jCp

29. Turing Reaction-diffusion Model Confirmed

http://www.scientificcomputing.com/news/2015/09/turing-reaction-diffusion-model-confirmed?

http://www.scientificcomputing.com/sites/scientificcomputing.com/files/Turing_Reaction-diffusion_Model_Confirmed_ml.jpg

In 1952, the legendary British mathematician and cryptographer Alan Turing proposed a model, which assumes formation of complex patterns through chemical interaction of two diffusing reagents. Russian scientists managed to prove that the corneal surface nanopatterns in 23 insect orders completely fit into this model.

Their work is published in the Proceedings of the National Academy of Sciences.

The work was done by a team working in the Institute of Protein Research of the Russian Academy of Sciences, (Pushchino, Russia) and the Department of Entomology at the Faculty of Biology of the Lomonosov Moscow State University. It was supervised by Professor Vladimir Katanaev, who also leads a lab in the University of Lausanne, Switzerland. Artem Blagodatskiy and Mikhail Kryuchkov performed the choice and preparation of insect corneal samples and analyzed the data. Yulia Lopatina from the Lomonosov Moscow State University played the role of expert entomologist, while Anton Sergeev performed the atomic force microscopy.

The initial goal of the study was to characterize the antireflective three-dimensional nanopatterns covering insect eye cornea, with respect to the taxonomy of studied insects and to get insight into their possible evolution path.

The result was surprising as the pattern morphology did not correlate with insect position on the evolutionary tree. Instead, Russian scientists have characterized four main morphological corneal nanopatterns as well as transition forms between them, omnipresent among the insect class. Another finding was that all the possible forms of the patterns directly matched to the array of patterns predicted by the famous Turing reaction-diffusion model published in 1952, what Russian scientists confirmed not by mere observation, but by mathematical modeling as well. The model assumes formation of complex patterns through chemical interaction of two diffusing reagents.

The analysis of corneal surface nanopatterns in 23 insect orders has been performed by means of atomic force microscopy with resolution up to single nanometers.

“This method allowed us to drastically expand the previously available data, acquired through scanning electron microscopy; it also made possible to characterize surface patterns directly, not based upon analysis of metal replicas. When possible, we always examined corneae belonging to distinct families of one order to get insight into intra-order pattern diversity,” Blagodatskiy said.

The main implication of the work is the understanding of the mechanisms underlying the formation of biological three-dimensional nano-patterns, demonstrating the first example of Turing reaction-diffusion model acting in the bio-nanoworld.

Interestingly, the Turing nanopatterning mechanism is common not only for the insect class, but also for spiders, scorpions and centipedes in other words — universal for arthropods. Due to the antireflective properties of insect corneal nanocoatings, the revealed mechanisms are paving the way for design of artificial antireflective nanosurfaces.

“A promising future development of the project is planned to be a genetic analysis of corneal nanopattern formation on platform of a well-studied Drosophila melanogaster (fruitfly) model. The wild-type fruitflies possess a nipple array type nanocoating on their eyes,” Blagodatskiy summarized.

Different combinations of overexpressed and underexpressed proteins known to be responsible for corneal development in Drosophila may alter the nipple pattern to another pattern type and thus shed the light on chemical nature of compounds, forming the Turing-type structures upon insect eyes. Revealing of proteins and\or other agents responsible for nanopattern formation will be a direct clue to artificial design of nanocoatings with desired properties. Another direction of project development will be the comparison

Citation: Artem Blagodatski, Anton Sergeev, Mikhail Kryuchkov, Yuliya Lopatina, Vladimir L. Katanaev. Diverse set of Turing nanopatterns coat corneae across insect lineages.Proceedings of the National Academy of Sciences, 2015; 112 (34): 10750 DOI:10.1073/pnas.1505748112

30.  Germ-free mice gain weight when transplanted with gut microbes from obese humans, in a diet-dependent manner.

By Ed Yong | September 5, 2013

Escherichia coliWIKIPEDIAPhysical traits like obesity and leanness can be “transmitted” to mice, by inoculating the rodents with human gut microbes. A team of scientists led byJeffrey Gordon from the Washington University School of Medicine in St. Louis found that germ-free mice put on weight when they were transplanted with gut microbes from an obese person, but not those from a lean person.

The team also showed that a “lean” microbial community could infiltrate and displace an “obese” one, preventing mice from gaining weight so long as they were on a healthy diet. The results were published today (September 5) in Science.

Gordon emphasized that there are many causes of obesity beyond microbes. Still, he said that studies like these “provide a proof-of-principle for ameliorating diseases.” By understanding how microbes and food interact to influence human health, researchers may be able to design effective probiotics that can prevent obesity by manipulating the microbiome.

The human gut is home to tens of trillions of microbes, which play crucial roles in breaking down food and influencing health. Gordon’s group and others have now shown that obese and lean people differ in their microbial communities. Just last week, the MetaHIT consortium showed that a quarter of Danish people studied had a very low number of bacterial genes in their gut—an impoverished state that correlated with higher risks of both obesity and metabolic diseases.

However, descriptive studies like these cannot tell scientists whether such microbial differences are the cause of obesity or a consequence of it. “A lot of correlations are being made between microbe community configurations and disease states, but we don’t know if these are casual or causal,” said Gordon. By using germ-free mice as living laboratories, Gordon and his colleagues aim to start moving “beyond careful description to direct tests of function,” he added.

“It’s extremely exciting and powerful to go from descriptive studies in humans to mechanistic studies in mice,” said Oluf Pedersen, an endocrinologist who was involved in the MetaHIT studies. “That’s beautifully illustrated in this paper.”

Gordon lab graduate student Vanessa Ridaura inoculated the germ-free mice with gut microbes from four pairs of female twins, each in which one person was obese and the other had a healthy weight. Mice that received the obese humans’ microbes gained more body fat, put on more weight, and showed stronger molecular signs of metabolic problems.

Once the transplanted microbes had taken hold in their guts, but before their bodies had started to change, Ridaura housed the two groups of mice together. Mice regularly eat one another’s feces, so these cage-mates inadvertently introduced their neighbors’ microbes to their own gut communities. Gordon called this the “Battle of the Microbiota.”

These co-housing experiments prevented the mice with “obese” microbes from putting on weight or developing metabolic problems, while those with the “lean” microbes remained at a healthy weight.

Gordon explains that the obese microbe communities, being less diverse than the lean ones, leave many “job openings” within the gut—niches that can be filled by the diverse lean microbes when they invade. “And obviously, those job openings aren’t there in the richer, lean gut community,” he said. “That’s why the invasion is one-directional.”

“But if invasion is so robust, why then isn’t there an epidemic of leanness?” asked Gordon. “The answer appears to be, in part, diet.”

In her initial experiments, Ridaura fed the mice standard chow, which is high in fiber and plant matter. She also blended up two new recipes, designed to reflect extremes of saturated fat versus fruit and vegetable consumption associated with Western diets.

If the mice were fed food low in fat and high in fruit and vegetables, Ridaura found the same results as before—the lean microbes could cancel out the effect of the obese ones. But when the mice were fed food low in fruit and vegetables and high in saturated fat, those with obese gut microbes still gained weight, no matter who their neighbors were.

This may be because the best colonizers among the lean communities were the Bacteroidetes—a group of bacteria that are excellent at breaking down the complex carbohydrates found in plant foods. When the mice ate plant-rich diets, the Bacteroidetes could fulfill a metabolic role that was vacant in the obese gut communities. When the mice ate unhealthy, plant-poor diets, “these vacancies weren’t there and the organisms couldn’t establish themselves,” said Gordon.

“We’re now trying to identify particular sets of organisms that can do what the complete community does,” Gordon added. The ultimate goal is to create a set of specific bacteria that could be safely administered as a probiotic that, along with a defined diet, could help these beneficial microbes to establish themselves and might effectively prevent weight gain.

“This study is an inspiration for us at MetaHIT,” said Pedersen. “It would be very interesting to take stools or cultures from extreme cases within our samples—people who have very rich or very poor gut microbiomes—and inoculate them into germ-free mice. . . . Now that we have a proof-of-concept, it’s obvious for us to follow up our findings through these studies.”

V.K. Ridaura et al., “Gut microbiota from twins discordant for obesity modulate metabolism in mice,” Science, doi: 10.1126/science.1241214, 2013.

31. Gut Microbes Treat Illness

Oral administration of a cocktail of bacteria derived from the human gut reduces colitis and allergy-invoked diarrhea in mice.

By Chris Palmer | July 10, 2013

Micrograph of germ-free mice colon colonized with 17 strains of human-derived Clostridia. Kenya Honda

An astounding array of microorganisms colonizes the human gut; our large intestines alone are home to 1014 bacteria from more than 1,000 species. Though scientists have long attempted to manipulate these microbial populations to affect health, probiotics have failed to reliably treat disease. However, a new study published today in Nature reports that a blend of specially selected strains of Clostridium bacteria derived from humans can significantly reduce symptoms of certain immune disorders in mice.

“[This work] shows that microbes can influence the balance and architecture of the immune system of their host,” said Sarkis Mazmanian, an immunologist at the California Institute of Technology who did not participate in the research. “I think it has tremendous potential for ameliorating human disease.”

Mammalian gut microbiota—the community of microorganisms that inhabit the gastrointestinal tract—have a long, intimate, and mostly symbiotic history with their hosts. The ubiquitous bugs are integral to some of the most basic of physiological functions, including metabolism and immune system development and function. However, specific gut microbes have also been linked to autoimmune disorders, obesity, inflammatory bowel disease, and possibly even neurological disorders. “It’s clear that gut microbes can affect many, many aspects of our physiology,” said Mazmanian.

Senior author Kenya Honda and his team previously reported that colonization of germ-free mice—mice that lack a microbiota—with a cocktail of a few dozen strains of Clostridium bacteria derived from wild-type mice promoted the activity of regulatory T cells (Treg) in the colon. Treg cells produce important anti-inflammatory immune molecules, including interleukin-10 and inducible T-cell co-stimulator, to prevent an overreaction of the immune system, and disruption of Treg cells is known to play a role in autoimmune disorders such as colitis, Crohn’s disease, food allergies, and type II diabetes. Indeed, mice treated with theClostridium cocktail appeared more resistant to allergies and intestinal inflammation.

Clostridia bacteria include the well-known tetanus and botulism toxins. “Clostridia are very diverse bacteria, and include some pathogens,” said Alexander Rudensky, an immunologist at the Memorial Sloan-Kettering Cancer Center in New York and a cofounder,  of Vedanta Biosciences, which he launched with the paper authors in 2010. “So, their role [in disease] may be surprising to immunologists and public, but not to microbiologists.”

To extend the clinical relevance of the previous results, Honda’s group repeated their experiment usingClostridium derived from a sample of human feces. As in the previous study, germ-free mice treated with specially selected strains of human-derived Clostridia displayed a significant increase in Treg cells. The treated mice also displayed reduced symptoms of colitis and allergy-induced diarrhea.

“This is a terrific advance to their previous studies where they showed that mouse microbiota can induce regulatory T cells,” said Mazmanian. “In this paper they’ve extended that to bacteria that come from humans, which they have tested in mice.”

The researchers used RNA sequencing of gut tissue samples of mice treated with human microbes to identify 17 specific non-virulent strains of Clostridium responsible for the increased production of Treg cells. They then sequenced the metagenomes of human ulcerative colitis patient guts, and found that they tended to carry lower levels of the 17 strains, with 5 out of the 17 showing a statistically significant reduction. “This work lays out the first instance of a rationally designed drug candidate isolated from human microbiota, which can be given to animals to treat autoimmune disease,” said study coauthor Bernat Olle, the chief operating officer of Vedanta Biosciences, which is developing therapies based on the new research.

Investigations into the mechanisms underlying Treg-cell induction pointed to small chain fatty acids and bacterial antigens that are cooperatively produced by the 17 strains of Clostridium. The small chain fatty acids and antigens in turn activate a transforming growth factor (TGF-beta) response that drives Treg cell differentiation and expansion.

“It’s very valuable to see studies like this one, where detailed analysis of microbial compositions is linked to biology,” said Rudensky.

Atarashi et al., “Treg induction by a rationally selected mixture of Clostridia strains from the human microbiota,” Nature, doi:10.1038/nature12331, 2013.

 

32.  Foxp3 targets revealed

The first comprehensive — but preliminary — list of Foxp3 targets in mice could provide clues to how the protein helps regulate the immune system

By Chandra Shekhar | January 22, 2007

The first comprehensive catalogue of mouse genes targeted by the transcriptional factor Foxp3 appears intwo papers published in this week’s Nature. The lists from both studies don’t always match, but the combined findings represent a key step in understanding how the protein helps regulatory T-cells maintain immune system tolerance and prevent autoimmune diseases. “The papers provide the first look at relating the transcriptional DNA-binding activity of Foxp3 with specific target genes,” said Fred Ramsdell of ZymoGenetics in Seattle, who was not involved in either study. “This is something the field has beenlooking to do for the past five years.” Expressed primarily in regulatory T-cells, Foxp3 is essential to both their development and normal function. Loss-of-function Foxp3 mutations in mice and humans result in fatal autoimmune diseases. A research team led by Alexander Rudensky of the University of Washington in Seattle, with Ye Zheng as first author, used ex vivo T-cells from mice with Foxp3 knocked out or tagged with GFP. Using a chromatin immunoprecipitation (ChIP) protocol, the team located nearly 1,300 Foxp3 binding sites on the mouse genome, from which it identified 702 Foxp3-bound genes. “Unlike other transcription factors, Foxp3 binds to only a few sites in the genome,” observed Rudensky. “But its binding results in very efficient changes in gene expression.” Another study, led by Richard Young of the Whitehead Institute in Cambridge, Mass. and Harald von Boehmer of the Dana-Farber Cancer Institute in Boston, also used ChIP to identify Foxp3 binding sites. Out of more than 1,500 binding sites, they identified 1,119 genes bound by Foxp3. Instead of ex vivo T-cells, however, the researchers used T-cell hybridomas transfected with Foxp3. This made it easier to observe the effects of T-cell receptor stimulation, explained study’s first author, Alexander Marson. “Foxp3 exerts a much stronger influence on its target genes in stimulated cells than in unstimulated cells,” he noted. Ethan Shevach of the National Institutes of Health in Bethesda, Md., who was not involved in either study, said he preferred the use of normal T-cells — as in the Zheng et al. study — to hybridomas. “There is no evidence that the cell [Marson et al] transfect with Foxp3 is a regulatory T-cell,” Shevach said. Some of the direct targets of Foxp3 identified in the two studies — such as members of the irf family — are transcription factors in their own right, indicating a second layer of regulation mediated by Foxp3. The target lists also include a number of genes for cell surface molecules, such as CD28, and signal transduction, such as Cdc42. “Some of these targets are red herrings,” cautioned Shevach. “Foxp3 may bind to them, but they may have nothing to do with regulatory cell function.” The results from the two studies differ significantly. For instance, Zheng et al. noted that ctla4 — an important T-cell inhibitor — was bound and strongly upregulated by Foxp3, but Marson et al. did not observe this. Conversely, while both studies found that Foxp3 bound to the receptor for IL2, a key player in immune response, only Marson et al. found IL2 itself to be a target. Further, while Zheng et al. determined that Foxp3 activated more genes than it suppressed, Marson et al. came to the opposite conclusion. “What I found most striking was the amount of non-overlap between the two datasets,” said Steve Ziegler of the Benaroya Research Institute in Seattle. “This may reflect the fact that they used two different systems for their chip-on-chip analysis.” Despite the discrepancies, experts said the studies would be a major help in research into immune tolerance. “Foxp3 is located in the nucleus and is hard to get at,” said Ziegler. “Downstream targets of it may be more accessible and give us more tractable surrogate markers of regulatory T-cells.” Chandra Shekhar cshekhar@the-scientist.com Links within this article Two papers: Y. Zheng, et al., “Genome-wide analysis of Foxp3 target genes in developing and mature regulatory T cells,” Nature, Jan 2007. A. Marson, et al., “Foxp3 occupancy and regulation of key target genes during T-cell stimulation,” Nature, Jan 2007. http://www.nature.com T.P. Toma, “Self-tolerance gene?” The Scientist, January 9, 2003 http://www.the-scientist.com/article/display/20994 M. Greener, “Hot on tolerance’s trail: The hunt for human Foxp3,” The Scientist, May 23, 2005http://www.the-scientist.com/article/display/15478 F. Ramsdell, “Foxp3 and natural regulatory T cells: Key to a cell lineage?” Immunity, August 2003. ‘http://www.immunity.com/content/article/abstract?uid=PIIS1074761303002073 Alexander Rudenskyhttp://depts.washington.edu/immunweb/faculty/profiles/rudensky.html Richard Younghttp://jura.wi.mit.edu/young_public/index.html Harald von Boehmer http://www.dana-farber.org/res/physician/detail.asp?personID=232&RD=True&group=%28Researcher%29 Ethan Shevachhttp://www3.niaid.nih.gov/labs/aboutlabs/li/cellularImmunologySection Steve Zieglerhttp://www.benaroyaresearch.org/investigators/ziegler_steven

32.  Lasker Winners Announced

This year’s prizes honor pioneering work on the unfolded protein response, deep-brain stimulation, and the discovery of cancer-related genes.

By Tracy Vence | September 8, 2014

Kazutoshi Mori (left), Peter Walter (right) ALBERT AND MARY LASKER FOUNDATION Kazutoshi Mori of Kyoto University in Japan and Peter Walter of the University of California, San Francisco, have won the 2014 Lasker Award for basic medical research. Mori and Walter are being honored by the Albert and Mary Lasker Foundation for their work related to the unfolded protein response—a cellular stress response that has been implicated in several protein-folding diseases.

In its announcement, the foundation said that “Mori and Walter’s work has led to a better understanding of inherited diseases such as cystic fibrosis, retinitis pigmentosa, and certain elevated cholesterol conditions in which unfolded proteins overwhelm the unfolded protein response.”

Three years ago, the Lasker Foundation honored Franz-Ulrich Hartl and Arthur Horwich for their protein-folding work with its 2011 basic research award.

Meanwhile, Alim Louis Benabid of Joseph Fourier University in Grenoble, France, and Mahlon DeLong of the Emory University School of Medicine in Atlanta, Georgia, have won the this year’s Lasker-DeBakey Clinical Medical Research Award for their deep-brain stimulation work that has been used to help restore and motor function in patients with advanced Parkinson’s disease.

And the University of Washington’s Mary-Claire King has won the 2014 Lasker-Koshland Special Achievement Award in Medical Science for “bold, imaginative, and diverse contributions to medical science and human rights” related to her work to reunite missing persons or their remains with their families, as well as her discovery of the cancer-related BRCA1 gene locus. In a commentary published in JAMA today (September 8), King and her colleagues advocated for population-based screening for cancer-related genetic variants. “Population-wide screening will require significant efforts to educate the public and to develop new counseling strategies, but this investment will both save women’s lives and provide a model for other public health programs in genomic medicine,” they wrote.

This year’s recipients will receive a $250,000 honorarium per category. The awards will be presented on Friday, September 19, in New York City.

33.  Protein Binding

Edited by: Thomas W. Durso S.D. Rosen, C.R. Bertozzi, “The selectins and their ligands,” Current Opinion in Cell Biology, 6:663-73, 1994. (Cited in more than 60 publications through April 1996) Comments by Steven D. Rosen, University of California, San Francisco The selectins are a trio of related proteins involved in leukocyte-endothelium interactions, affecting the ability of leukocytes-that is, white blood cells-to interact with blood vessel walls. THREEPEAT: The selectins are a threesome

By Carolyn Bertozzi | October 28, 1996

Edited by: Thomas W. Durso
S.D. Rosen, C.R. Bertozzi, “The selectins and their ligands,” Current Opinion in Cell Biology, 6:663-73, 1994. (Cited in more than 60 publications through April 1996) Comments by Steven D. Rosen, University of California, San Francisco

The selectins are a trio of related proteins involved in leukocyte-endothelium interactions, affecting the ability of leukocytes-that is, white blood cells-to interact with blood vessel walls.

THREEPEAT: The selectins are a threesome of related proteins, says UC-San Francisco’s Steven Rosen.

“One of the novel aspects of the selectins is that they function as carbohydrate-binding receptor molecules-that is, they recognize specific carbohydrate structures as their ligands, or counter-receptors,” Rosen says. “This means that in principle, it’s possible to interrupt the function of selectins by determining what carbohydrates they bind to and providing mimics for those carbohydrates in the form of soluble small molecules, thereby arriving at a new class or classes of anti-inflammatory substances.”The paper summarizes the three selectins and their physiological functions in leukocyte-endothelium interactions, and describes how they function.First identified at the molecular level in 1989 (L.M. Stoolman, Cell,56:907-10, 1989), selectins are the topic of this review paper by Steven D. Rosen, a professor in the department of anatomy and program in immunology at the University of California, San Francisco, and Carolyn R. Bertozzi, a former postdoc in Rosen’s lab and now an assistant professor of chemistry at the University of California, Berkeley.

Rosen explains that with leukocytes moving from the blood into tissues, the leukocyte-endothelium interaction is critical to inflammatory reactions.

ONE PLACE: UC-Berkeley’s Carolyn Bertozzi, Rosen’s former postdoc, was coauthor of the review paper.

“Leukocytes in tissue sites are protecting the individual from bacterial invasions and foreign substances that the individual wants to eliminate, but leukocytes can have an arsenal of destructive capabilities which can be turned on the individual’s own tissues. So inflammatory reactions have a down side. There are a lot of inflammatory diseases, such as rheumatoid arthritis, multiple sclerosis, lupus, and other autoimmune diseases.””In many cases, inflammatory reactions lead to pathological problems,” he points out. “It’s a defense mechanism the body has, but leukocytes being in tissue sites can cause problems as well as be of value to the individual.

He concludes: “The interest in the selectins was: Here’s a family of proteins that has involvement in leukocyte-endothelium interactions, therefore here’s a potential set of targets to prevent leukocyte entry into tissues and prevent inflammatory problems.”

Asked for his opinion on why this paper has been cited so much, Rosen replies: “There’s a huge amount of interest in the selectins, because there’s basic cell biology and biochemistry that everybody’s interested in here. . . . There’s a real convergence of the basic science with direct clinical applications. What you do in the lab can have immediate ramifications on the design of anti-inflammatory compounds. There’s tremendous biotech and pharmaceutical company interest in the selectins and their ligands.

“This has been a tremendously hot topic since 1989, and it will be for years to come. Our article put everything down in one place, from the basic cell biology to the clinical connections, and updated the carbohydrate information and ligand identification information in a very accessible way.”

In addition to reviewing the selectins, Rosen states, “the paper deals with what is known about the carbohydrates that the selectins recognize, and what is known about the macromolecules-the ligands-that carry these carbohydrates. What might make the carbohydrates that one selectin recognizes different from the carbohydrates that another selectin molecule might recognize-that is, what is the selectivity of carbohydrate binding among the three selectins?”

The paper also lists the animal models of inflammatory diseases in which selectins have been shown to play an important role, “where antagonism of the selectin leads to beneficial effects, in terms of decreasing damage,” Rosen notes.

Since the publication of this paper, he and Bertozzi have written a second review, updating ligand characterizations (S.D. Rosen, C.R. Bertozzi, Current Biology, 6:261-4, 1996).

“It has a lot more on carbohydrate specificity, and it’s got some new information on how one of the selectins recognizes its ligands,” Rosen notes. “Sulfation is important. At the time of the first review, sulfation was known to be important for the binding of one selectin to its ligands. . . . This review points to the importance of sulfation for the ligand of another selectin. The nature of the sulfation modifications of the ligands are very different for the two selectins.”

Additional LPBI articles:

MIT’s Promise for the MI Patient: A new cardiac patch uses Gold Nanowires to enhance Electrical Signaling between heart cells

Curator: Aviva Lev-Ari, PhD, RN

http://pharmaceuticalintelligence.com/2013/07/25/mits-promise-for-the-mi-patient-a-new-cardiac-patch-uses-gold-nanowires-to-enhance-electrical-signaling-between-heart-cells/

Nanotechnology and Heart Disease

Author and Curator:  Tilda Barliya PhD

http://pharmaceuticalintelligence.com/2013/03/04/nanotechnology-and-heart-disease/

AAAS February 14-18, 2013, Boston: Symposia – The Science of Uncertainty in Genomic Medicine

Reporter: Aviva Lev-Ari, PhD, RN

http://pharmaceuticalintelligence.com/2013/01/20/aaas-february-14-18-2013-bostonsymposia-the-science-of-uncertainty-in-genomic-medicine/

Robert S. Langer, Massachusetts Institute of Technology

Challenges and Opportunities at the Confluence of Biotechnology and Nanomaterials

Introduction to Tissue Engineering; Nanotechnology applications

Author, editor; Tilda Barliya PhD

http://pharmaceuticalintelligence.com/2013/01/01/introduction-to-tissue-engineering-nanotechnology-applications/

Building a Drug-Delivery System(DDS): choice of polymers and drugs

Author: Tilda Barliya PhD

http://pharmaceuticalintelligence.com/2012/10/04/building-a-drug-delivery-systemdds-choice-of-polymers-and-drugs/

Read Full Post »

Eppendorf Award for Young European Investigators

Curator: Larry H. Bernstein, MD, FCAP

Article ID #184: Eppendorf Award for Young European Investigators. Published on 9/18/2015

WordCloud Image Produced by Adam Tubman

Series E. 2; 8.11

The independent Eppendorf Award Jury chaired by Prof. Reinhard Jahn selected Dr. Thomas Wollert (Research Group Leader at the Max Planck Institute of Biochemistry in Martinsried, Germany) as the 2015 winner of the Eppendorf Award for Young European Investigators.

Thomas receives the €20,000 prize for his groundbreaking work in reconstituting complex intracellular membrane events in the test tube using artificial membranes and purified components. His experiments have paved the way for understanding key steps in autophagy, a fundamental process required for the clearance of damaged cell parts in all eukaryotic cells.

Listen to a podcast with Thomas Wollert and learn more about his work, and read excerpts from the interview in a Q&A feature article.

Presented in partnership with Nature The Eppendorf Award for Young European Investigators was established in 1995 to recognize outstanding work in biomedical science. It also provides the opportunity for European researchers to showcase their work and communicate their research to a scientific audience. Nature is pleased to partner with Eppendorf to promote the award and celebrate the winner’s work in print and online. Nature’s Julie Gould talks to the 2015 winner Thomas Wollert (Max Planck Institute of Biochemistry, Germany) about his work — which looks at the complex molecular process that cells use to remove their waste — and how it felt to win the award.
To listen to the full interview, visit: go.nature.com/cszfl1

About the Award Thomas Wollert is the twentieth recipient of the Eppendorf Award for Young European Investigators, which recognizes talented young individuals working in the field of biomedical research in Europe. The Eppendorf Award is presented in partnership with Nature. The winner is selected by an independent jury of scientists under the chairmanship of Reinhard Jahn, Director at the Max Planck Institute for Biophysical Chemistry in Göttingen, Germany. Nature and Eppendorf do not influence the selection. For more information see: eppendorf.com/award

http://www.nature.com/nature/awards/eppendorf/eppendorf_award_2015.pdf?WT.mc_id=EMI_NATURE_1509_YOUNGINVESTIGATOR2015&spMailingID=49568192&spUserID=MTYxNjA5NDg5ODE3S0&spJobID=762344014&spReportId=NzYyMzQ0MDE0S0

Julie Gould: Congratulations on being awarded this year’s prize. How did it feel when you found out that you had won?

Thomas Wollert: That came as a big surprise to me. It’s a great honor and it’s of course a major recognition of our work; not only my work, but also the work that my laboratory has done over the past five years. So this is very important to me.

JG: Tell us a little bit about the research you are working on.

TW: The cells in our bodies recycle almost everything — they do not waste much. The question in the past has been: how is this achieved? The process needs to be highly regulated. You don’t want to degrade something that you still need, but you do want to get rid of dangerous material that accumulates in the cell. We became interested in one pathway that is involved in transporting this sort of trash, or unwanted material, to recycling stations in the cell. We are particularly interested in how the molecular mechanism is driven.

JG: What sort of molecular trash are we talking about?

TW: Everything that needs to be degraded in a cell has to end up at a recycling station, one of which is called the lysosome. What ends up there is chemically degraded, and the building blocks are reused by the cell to build material. Proteins that become aggregated, big material or composite structures, and everything else in the cell cytoplasm (such as mitochondria) need to be transported to the lysosome. There is a specialized pathway to do that — this has been called autophagy for self-digestion. During autophagy, crescent-shaped membranes are formed, which expand and capture cytoplasmic components. These structures become autophagosomes, which are like entire organelles and are the containers that transport the trash to the lysosomes for degradation.

JG: How do these autophagosomes form in the cell?

TW: In yeast the system is fairly well understood. Small membrane vesicles are recruited and fuse to form the crescents haped autophagic precursor membrane. This membrane then surrounds and captures material, and, after sealing, the full autophagosome is formed and finally fuses with the lysosome. There are 40 different proteins in yeast that have been identified as those that have an essential function in autophagy — they are specific to the autophagy pathway. The question was, what are they doing with the membrane and what is their molecular function? And that was the major interest of my lab.

JG: What did you discover? TW:

We analysed two important steps in autophagy. The first is initiation and the second is expansion.

An autophagosome is built from small vesicles, which come together and fuse. This process is driven by one big complex called the Atg1-kinase complex. This complex is known to be involved in recruiting the donor vesicles that create the autophagosome. We recently published work on the expansion step. This is an interesting step that involves a small ubiquitin-like molecule, Atg8. The unique feature of this particular molecule is that it becomes covalently attached to autophagic precursor membranes. Many Atg8 molecules get conjugated to these membranes, so the question has been: why is there so much Atg8 on the membrane and what is its job there? To answer this, we analyzed the proteins independently of the complex cellular environment. We produced recombinant molecular machines that drive the formation of autophagosomes and analyzed their function in the test tube. The test-tube components include the protein subunits of these molecular machines and model membranes that serve as the platform for proteins to assemble into large complexes. What we realized — and what came as a surprise to us — was that the molecular machine that drives conjugation of Atg8 stays with Atg8 at the membrane, rather than leaving after conjugation. We predicted that something needs to happen, some bigger structure needs to form on the membrane to keep the conjugation machine there. Using high-resolution approaches, we observed that Atg8 forms together with its conjugation machine, a protein shell on membranes. It’s like a meshwork that sits on top of the membrane and stabilizes the forming autophagosome. Presumably.

JG: Why presumably?

TW: Because the details of how this expansion is driven by the scaffold is something that we are investigating.

JG: Will you be following this up over the next few years?

TW: Yes. This is an interesting question, but not an easy one to answer. We need to understand the direct relationship of how this really works in vivo.

JG: How does the autophagosome capture material from cells?

TW: The selection of cargo comes in two flavours. Under normal conditions, when the cell is happy, it only wants to degrade unwanted material or something damaged. It chooses these materials quite selectively. For example, it might only want to degrade dysfunctional mitochondria, the cell’s power plants. The membrane then wraps tightly around these structures. However, if a cell becomes stressed or starved, it can use autophagy to degrade anything that’s around. That means bulk cytoplasm without any selectivity. Imagine a big happy cell that is starved and goes on a low-value nutritional diet. The cell will shrink, but it survives. If nutritional conditions improve, it can grow again.

JG: What big impacts will this research have?

TW: The research focus at the moment is neurodegenerative disease and cancer. In certain neurodegenerative diseases, some proteins can accumulate in cells. There are a couple of diseases, such as Huntington’s disease, in which particular genetic modifications lead to alterations in proteins, which then tend to aggregate. In other diseases, such as Alzheimer’s disease, proteins also accumulate, and those protein oligomers, or aggregates, are toxic to the cell. In some neurodegenerative diseases, it has been observed that increasing autophagy is beneficial for cells, and thus patients, because increasing autophagy increases the removal of the toxic material. Neurodegenerative disease is usually not observed until the later stages, when this material has already accumulated. If you could remove this harmful material from cells, you could maybe rescue some neurons from dying. This is one application where you would really want to increase autophagy. In cancer, it has already been shown that combining chemotherapy with an inhibitor of autophagy is beneficial because autophagy just counteracts chemotherapy.

JG: What is it about this field that you find so interesting?

TW: What excites me the most is that you can use a minimal system, combining a few components and then trying to get them to work in a test tube. Our major goal, and our holy grail in this research, is to have the full autophagy pathway in a test tube, combining the autophagy components, step by step, to produce an autophagosome from small membranes, and to have some material wrapped in the autophagosome.

Award Winners

2015 Winner

In 2015 Eppendorf AG is presenting the Eppendorf Award for Young European Investigators for the 20th time. The independent Eppendorf Award Jury chaired by Prof. Reinhard Jahn selected Dr. Thomas Wollert (Research Group Leader Molecular Membrane and Organelle Biology at the Max Planck Institute of Biochemistry in Martinsried, Germany) as the 2015 winner of the Eppendorf Award for Young European Investigators. Thomas Wollert, born 1979, receives the €20,000 prize for his groundbreaking work in reconstituting complex intracellular membrane events in the test tube using artificial membranes and purified components. Thomas talks about his work in this Award Feature

The official prize ceremony took place at the EMBL Advanced Training Centre in Heidelberg, Germany, on June 25, 2015.

To hear an interview with prize winner Thomas, listen here.

2014 Winner

The independent Eppendorf Award Jury chaired by Prof. Reinhard Jahn selected Madeline Lancaster, Ph.D., of the Institute of Molecular Biotechnology of the Austrian Academy of Sciences, Vienna, Austria, as the 2014 winner of the Eppendorf Award for Young European Investigators. Madeline Lancaster, born 1982, receives the € 15,000 research prize for her work showing that complex neuronal tissues resembling early states of fetal human brain can be created in vitro from pluripotent stem cells. Madeline talks about her work in this Award Feature

To hear an interview with prize winner Madeline, listen here or watch the video from the award ceremony.

2013 Winner

The independent Eppendorf Award Jury chaired by Prof. Reinhard Jahn selected Ben Lehner, Ph.D., of the Centre de Regulació Genòmica, Barcelona, Spain, as the 2013 winner of the Eppendorf Award for Young European Investigators. Ben, born 1978, receives the € 15,000 research prize for his discoveries concerning the fundamental question why mutations in the genome result in variable phenotypes. Ben talks about his work in this Award Feature.

To hear an interview with prize winner Ben, listen here or watch the video from the award ceremony.

2012 Winner

The 2012 prize was awarded to Elizabeth Murchison, Ph.D. (Wellcome Trust Sanger Institute, Cambridge, United Kingdom) for her discoveries concerning a deadly cancer that is spreading among the endemic population of Tasmanian devils in Tasmania and threatening the survival of the species. Elizabeth talks about her work in this Award Feature.

To hear an interview with prize winner Elizabeth, listen here or watch the video from the award ceremony in Heidelberg.

2011 Winner

The 2011 Eppendorf Young European Investigator Award goes to Suzan Rooijakkers for her contribution to discovering how Staphylococcus aureus evades immune attack. Suzan talks about her work on this Award Feature.

To hear an interview with prize winner Suzan, listen here.

Listen here to the podcast from the award ceremony in Heidelberg.

2009 Winner

In 2009 the prize was awarded to Óscar Fernández-Capetillo, head of the Genomic Instability Group at the Spanish National Cancer Center. Read the highlights of his interview with Nature in this Award Feature.

Listen here to learn about the impact the Award had on his career.

2008 Winner

The 2008 prize was awarded to Dr. Simon Boulton of the London Research Institute. Read the highlights of his interview with Nature in this Award Feature.

Listen here to learn about the impact the Award had on his career.

2007 Winner

Dr Mónica Bettencourt-Dias is the 2007 winner of the Eppendorf Young European Investigator Award. Monica gives a personal account of her research and the Eppendorf Award in an Award Feature forNature.

Listen here to learn more about the impact the award had on her career.

2006 Winner

Dr Luca Scorrano won the award in 2006. Read more about his research on the Eppendorf Young Investigator website.

Listen here to learn more about Dr Scorrano’s work and the impact the award has had on his career.

http://www.nature.com/multimedia/podcast/eppendorf/eppendorf-podcast-15.mp3   2015

https://www.youtube.com/watch?feature=player_embedded&v=N3SXLURTI_w   2014

https://www.youtube.com/watch?feature=player_embedded&v=ntU_Ve3x6oI     2013

https://www.youtube.com/watch?feature=player_embedded&v=E2mhX9ccEHs    2012

http://media.nature.com/download/nature/nature/podcast/eppendorf/eppendorf_2011_winner.mp3

http://media.nature.com/download/nature/nature/podcast/eppendorf/eppendorf_2011.mp3

http://media.nature.com/download/nature/nature/podcast/eppendorf/eppendorf_2010.mp3

http://media.nature.com/download/nature/nature/podcast/eppendorf/eppendorf-2009.mp3

Read Full Post »

McEwen Award for Innovation: Irving Weissman, M.D., Stanford School of Medicine, and Hans Clevers, M.D., Ph.D., Hubrecht Institute

Larry H. Bernstein, MD, FCAP, Curator
Leaders in Pharmaceutical Innovation

Series E. 2; 7.3

Past winners include Azim Surani, James Thomson, Rudolf Jaenisch and Kazutoshi Takahashi with Shinya Yamanaka

The International Society for Stem Cell Research (ISSCR) has presented EuroStemCell partner Hans Clevers with the McEwen Award for Innovation at the opening of its annual meeting, today (24 June) in Stockholm, Sweden.

The prizes awarded by ISSCR in 2015 are:

McEwen Award for Innovation: Irving Weissman, M.D., Stanford School of Medicine, and Hans Clevers, M.D., Ph.D., Hubrecht Institute

ISSCR-BD Biosciences Outstanding Young Investigator Award: Paul Tesar, Ph.D., Case Western Reserve University School of Medicine

ISSCR Public Service Award: Alan Trounson, Ph.D., MIMR-PHI Institute of Medical Research

 

In 2015, the ISSCR recognizes long-standing contributors to the field, Weissman and Clevers, for the identification, prospective purification and characterization of somatic (adult) tissue-associated stem cells and advancement of their research findings toward clinical applications.

Award recipient Weissman’s many discoveries have helped map the direction of the stem cell field and have served as the basis for important research and work by scientists all over the world.  He was the first to isolate and characterize hematopoietic (blood) stem cells from mice and humans. He developed the approaches and technologies, now widely used within the field, for isolating blood stem and progenitor cells and defining their properties. Weissman pioneered the extension of his approaches to isolation of other stem cell types, including human nervous system cells and skeletal muscle myogenic stem/progenitor cells. Further, he discovered several independent leukemia stem cells and, more recently, bladder cancer stem cells, head and neck cancer stem cells and malignant melanoma stem cells. Weissman has pursued these discoveries to develop several promising means of cancer therapy.

Award recipient Clevers has been a leader in biomedical sciences and the area of Wnt signaling in colon cancer for more than three decades. He and his lab developed tools to identify and track an adult stem cell population able to give rise to the entire lining of the gut and later to demonstrate that these cells can be isolated and grown in culture as “miniguts,” recapitulating the normal structure and function of the gut. These discoveries are a move toward promising therapies for colon conditions, like ulcers, in which the lining of the intestine has been destroyed in patches, and provide a powerful resource for modeling disease pathology and for drug screening.

“Irv Weissman and Hans Clevers have made enormous contributions to stem cell science. Working in the blood and gut systems, respectively, and extending their findings in different tissues, they have defined the concepts and technologies that underpin many avenues of research,” Hans Schöler, chair of the ISSCR’s McEwen Awards selection committee, said. “Each has made pioneering conceptual advances in disease modeling and regenerative medicine.”

 

The ISSCR-BD Biosciences Outstanding Young Investigator Award recognizes exceptional achievements by an ISSCR member and investigator in the early part of their independent career in stem cell research.  The winner receives a $7,500 USD personal award and is invited to present at the ISSCR’s annual meeting. Past winners include Valentina Greco, Marius Wernig, Cédric Blanpain, Robert Blelloch, Joanna Wysocka and Konrad Hochedlinger.

Award recipient Tesar established his independent laboratory five years ago and has rapidly risen to his current position as the Dr. Donald and Ruth Weber Goodman Professor of Innovative Therapeutics and tenured Associate Professor in the Department of Genetics and Genome Sciences at Case Western Reserve University School of Medicine. Tesar’s studies have shaped the global understanding of both pluripotent stem cell and oligodendrocyte biology. His seminal and highly cited report on epiblast stem cells, published in Nature in 2007, along with similar findings by Pedersen, Vallier and colleagues, led to a complete shift in the understanding of how pluripotency is regulated in the mammalian embryo.  He has continued to provide high impact contributions to the field, pioneering new methods to generate and mature oligodendrocyte progenitor cells, and to use these to enhance repair in animal models of multiple sclerosis.

Stanford stem cell pioneer Irving Weissman wins international honors

by Krista Conger on Feb 10, 2015
http://news.stanford.edu/thedish/2015/02/10/stanford-stem-cell-pioneer-irving-weissman-wins-international-honors/

IRVING WEISSMAN, a professor of pathology and of developmental biology at Stanford Medical School, was recently awarded the Charles Rodolphe Brupbacher Prize for Cancer Research in Zurich.

Weissman, who directs the Stanford Institute for Stem Cell Biology and Regenerative Medicine, was honored for his role in identifying and isolating the first hematopoetic, or blood-forming, stem cell in mice in 1988, and then in humans in 1992. In 2000, he also isolated leukemia cancer stem cells from humans. Recently, he and his colleagues have devoted themselves to understanding how cancer cells escape destruction by the immune system by expressing a “don’t eat me” signal on their cell membranes.

“His discoveries on aging processes in stem-cell systems and ultimately his contribution toward understanding cancer stem cells and the way in which the immune system can control these cells are pioneering achievements with far-reaching clinical implications,” Markus Manz, director of the Department of Hematology at the University Hospital Zurich, said of Weissman at a symposium titled “Breakthroughs in Cancer Research and Therapy” where the prize was announced.

Weissman also is the director of Stanford’s Ludwig Center for Cancer Stem Cell Research and Medicine and holds the Virginia and Daniel K. Ludwig Professorship in Clinical Investigation in Cancer Research.

The prize, presented by the Charles Rodolphe Brupbacher Foundation, included 100,000 Swiss francs, or about $108,000.

The Charles Rodolphe Brupbacher Foundation was founded in 1991 by Brupbacher’s wife, Frederique, in honor of her late husband. This is the 12th time the prize, which is meant to recognize internationally acknowledged achievements in fundamental cancer research, has been awarded. Brupbacher was a Swiss banker, economist and international currency expert.

In addition to the Brupbacher Prize, it was recently announced that Weissman will receive theMcEwen Award for Innovation, supported by the McEwen Centre for Regenerative Medicine in Toronto. The award will be presented in June at the annual meeting of the International Society for Stem Cell Research in Stockholm. It recognizes the work of Weissman and Hans Clevers, of the Hubrecht Institute in the Netherlands, in the identification, purification and characterization of adult stem cells from a variety of human tissues and cancers. Weissman and Clevers will share a $100,000 award.

Anti-CD47 antibody may offer new route to successful cancer vaccination

Scientists at the School of Medicine have shown that their previously identified therapeutic approach to fight cancer via immune cells called macrophages also prompts the disease-fighting killer T cells to attack the cancer.

The research, published online May 20 in the Proceedings of the National Academy of Sciences, demonstrates that the approach may be a promising strategy for creating custom cancer vaccines.

Various researchers have been working over the years to create vaccines against cancer, but the resulting vaccines have not been highly effective. Current approaches to developing the vaccines rely on using immune cells called dendritic cells to introduce cancer protein fragments to T cells — a process known as antigen presentation. The hope has been that the process would stimulate the body’s T cells to identify cancer cells as diseased or damaged and target them for elimination. However, this process often only modestly activates the most potent cancer-fighting kind of T cell, called killer T cells or CD8+ T cells.

The Stanford team discovered that there was another viable vaccine approach, using the macrophage pathway to program killer T cells against cancer. Irving Weissman, MD, professor of pathology and of developmental biology, and his team previously showed that nearly all cancers use the molecule CD47 as a “don’t-eat-me” signal to escape from being eaten and eliminated by macrophages. The researchers found that anti-CD47 antibodies, which can block the “don’t-eat-me” signal and enable macrophages to engulf cancer cells, eliminated or inhibited the growth of various blood cancers and solid tumors.

In the new study, the Stanford team showed that after engulfing the cancer cells, the macrophages presented pieces of the cancer to CD8+ T cells, which, in addition to attacking cancer, are also potent attackers of virally infected or damaged cells. As a result, the CD8+ T cells were activated to attack the cancer cells on their own. “It was completely unexpected that CD8+ T cells would be mobilized when macrophages engulfed the cancer cells in the presence of CD47-blocking antibodies,” said MD/PhD student Diane Tseng, the lead author of the study. Following engulfment of cancer cells, macrophages activate T cells to mobilize their own immune attack against cancer, she said.

The Stanford group plans to start human clinical trials of the anti-CD47 cancer therapy in 2014. The new research provides hope that the therapy will cause the immune system to wage a two-pronged attack on cancer — through both macrophages and T cells. The approach may also give physicians early indicators of how the treatment is working in patients. “Monitoring T-cell parameters in patients receiving anti-CD47 antibody may help us identify the immunological signatures that tell us whether patients are responding to therapy,” said co-author Jens Volkmer, MD, an instructor at the Stanford Institute for Stem Cell Biology and Regenerative Medicine.

The research revives interest in an aspect of macrophages that has been neglected for decades: their role in presenting antigens to T cells. For many years, researchers have focused on the dendritic cell as the main antigen-presenting cell, and have generally believed that macrophages specialize in degrading antigens rather presenting them. This research shows that macrophages can be effective at antigen presentation and are powerful initiators of the CD8+T cell response.

The fact that T cells become involved in fighting cancer as a result of CD47-blocking antibody therapy could have important clinical implications. The antibody might be used as a personalized cancer vaccine allowing T cells to recognize the unique molecular markers on an individual patient’s cancer. “Because T cells are sensitized to attack a patient’s particular cancer, the administration of CD47-blocking antibodies in a sense could act as a personalized vaccination against that cancer,” Tseng added.

Weissman, who is senior author of the new study, is the director of the Stanford Institute for Stem Cell Biology and Regenerative Medicine and the director of the Stanford Ludwig Center for Cancer Stem Cell Research and Medicine.

Other Stanford investigators involved in the research were senior scientist Stephen Willingham, PhD; postdoctoral scholars John Fathman, PhD, Nathaniel Fernhoff, PhD, Matthew Inlay, PhD, and Masanori Miyanishi, MD, PhD; instructor Jun Seita, MD, PhD; graduate student Kipp Weisskopf, MPhil; and life sciences research associate Humberto Contreras-Trujillo.

The research was supported by the Virginia and D.K. Ludwig Fund for Cancer Research, the Joseph and Laurie Lacob Gynecologic/Ovarian Cancer Fund, the National Institutes of Health (grants R01CA86017, P01CA139490, P30CA124435 and F30CA168059), and the Student Training and Research in Tumor Immunology Program of the Cancer Research Institute.

Christopher Vaughan is communications manager at the Stanford Institute for Stem Cell Biology and Regenerative Medicine.

 

Clinical Investigation of a Humanized Anti-CD47 Antibody in Targeting Cancer Stem Cells in Hematologic Malignancies and Solid Tumors

Funding Type:

Disease Team Therapy Development III

Grant Number: DR3-06965

Investigator(s): Irving Weissman – PI

Institution: Stanford University

Disease Focus:
Cancer
Solid Tumor
Blood Cancer

Most normal tissues are maintained by a small number of stem cells that can both self-renew to maintain stem cell numbers, and also give rise to progenitors that make mature cells. We have shown that normal stem cells can accumulate mutations that cause progenitors to self-renew out of control, forming cancer stem cells (CSC). CSC make tumors composed of cancer cells, which are more sensitive to cancer drugs and radiation than the CSC. As a result, some CSC survive therapy, and grow and spread. We sought to find therapies that include all CSC as targets. We found that all cancers and their CSC protect themselves by expressing a ‘don’t eat me’ signal, called CD47, that prevents the innate immune system macrophages from eating and killing them. We have developed a novel therapy (anti-CD47 blocking antibody) that enables macrophages to eliminate both the CSC and the tumors they produce. This anti-CD47 antibody eliminates human cancer stem cells when patient cancers are grown in mice. At the time of funding of this proposal, we will have fulfilled FDA requirements to take this antibody into clinical trials, showing in animal models that the antibody is safe and well-tolerated, and that we can manufacture it to FDA specifications for administration to humans.

Here, we propose the initial clinical investigation of the anti-CD47 antibody with parallel first-in-human Phase 1 clinical trials in patients with either Acute Myelogenous Leukemia (AML) or separately a diversity of solid tumors, who are no longer candidates for conventional therapies or for whom there are no further standard therapies. The primary objectives of our Phase I clinical trials are to assess the safety and tolerability of anti-CD47 antibody. The trials are designed to determine the maximum tolerated dose and optimal dosing regimen of anti-CD47 antibody given to up to 42 patients with AML and up to 70 patients with solid tumors. While patients will be clinically evaluated for halting of disease progression, such clinical responses are rare in Phase I trials due to the advanced illness and small numbers of patients, and because it is not known how to optimally administer the antibody. Subsequent progression to Phase II clinical trials will involve administration of an optimal dosing regimen to larger numbers of patients. These Phase II trials will be critical for evaluating the ability of anti-CD47 antibody to either delay disease progression or cause clinical responses, including complete remission. In addition to its use as a stand-alone therapy, anti-CD47 antibody has shown promise in preclinical cancer models in combination with approved anti-cancer therapeutics to dramatically eradicate disease. Thus, our future clinical plans include testing anti-CD47 antibody in Phase IB studies with currently approved cancer therapeutics that produce partial responses. Ultimately, we hope anti-CD47 antibody therapy will provide durable clinical responses in the absence of significant toxicity.

New insights into the biology of cancer have provided a potential explanation for the challenge of treating cancer. An increasing number of scientific studies suggest that cancer is initiated and maintained by a small number of cancer stem cells that are relatively resistant to current treatment approaches. Cancer stem cells have the unique properties of continuous propagation, and the ability to give rise to all cell types found in that particular cancer. Such cells are proposed to persist in tumors as a distinct population, and because of their increased ability to survive existing anti-cancer therapies, they regenerate the tumor and cause relapse and metastasis. Cancer stem cells and their progeny produce a cell surface ‘invisibility cloak’ called CD47, a ‘don’t eat me signal’ for cells of the native immune system to counterbalance ‘eat me’ signals which appear during cancer development. Our anti-CD47 antibody counters the ‘cloak’, enabling the patient’s natural immune system to eliminate the cancer stem cells and cancer cells. Our preclinical data provide compelling support that anti-CD47 antibody might be a treatment strategy for many different cancer types, including breast, bladder, colon, ovarian, glioblastoma, leiomyosarcoma, squamous cell carcinoma, multiple myeloma, lymphoma, and acute myelogenous leukemia.

Development of specific therapies that target all cancer stem cells is necessary to achieve improved outcomes, especially for sufferers of metastatic disease. We hope our clinical trials proposed in this grant will indicate that anti-CD47 antibody is a safe and highly effective anti-ancer therapy that offers patients in California and throughout the world the possibility of increased survival and even complete cure.

We have previously developed a new therapeutic candidate, the anti-CD47 humanized antibody, Hu5F9-G4, which demonstrates potent anti-cancer activity in animal models of malignancy. The goal of CIRM DTIII Grant DR3-06965 is to conduct initial phase I clinical trials of this antibody in advanced cancer patients. We originally proposed to conduct two separate Phase I clinical trials: one in solid tumor patients with advanced malignancy (commenced in August 2014), the other in relapsed, refractory AML patients (anticipated to start in September 2015). The primary endpoints for these trials will be to assess safety and tolerability, and additional endpoints include obtaining information about the dosing regimen for subsequent clinical investigations, and initial efficacy assessments.

CD47 is a dominant anti-phagocytosis signal that is expressed on all types of human cancers assessed thus far. It binds to SIRPα, an inhibitory receptor on macrophages, and in so doing, blocks the ability of macrophages to engulf and eliminate cancer cells. Hu5F9-G4 blocks binding of CD47 to SIRPα, and restores the ability of macrophages to engulf or phagocytose cancer cells. In pre-clinical cancer models, treatment with Hu5F9-G4 shrunk tumors, eliminated metastases, and in some cases resulted in long-term protection from cancer recurrence. These results suggest that Hu5F9-G4 leads to elimination of cancer stem cells in addition to differentiated cancer cells.

We have developed Hu5F9-G4 for human clinical trials by demonstrating safety and tolerability in pre-clinical toxicology studies. These studies also indicated that we can achieve serum levels associated with potent efficacy in pre-clinical models. The regulatory agencies (FDA in the U.S., and MHRA in the U.K.) reviewed the large package of pre-clinical data describing Hu5F9-G4, and approved our requests to commence separate Phase I clinical trials in solid tumor and AML patients. The solid tumor trial commenced at Stanford in August 2014 and has been designed to assess patients in separate groups, or cohorts, treated with increasing doses of Hu5F9-G4. The trial is ongoing as primary endpoints have not been met. The acute myeloid leukemia trial has been given regulatory approval in the U.K., and will start enrolling patients in September 2015. In summary, during the last year, the Hu5F9-G4 clinical trials have made substantial progress and all milestones have been met.

Stem Cell Research: Promise and Progress

Hans Clevers: “Every day new research is showing us that many types of cancers are fed by tumour stem cells”

http://www.irbbarcelona.org/en/news/hans-clevers-every-day-new-research-is-showing-us-that-many-types-of-cancers-are-fed-by-tumour

The biggest challenge in designing new cancer therapies lies in successfully identifying and targeting tumour stem cells, which are responsible for the regrowth of the tumour.

The Barcelona BioMed Conference on “Normal and Tumour Stem Cells”, aims to analyze the function of stem cells in cancer. The conference, which begins today and runs until November 14 at the Institut d’Estudis Catalans, is co-organized by colon cancer research experts Eduard Batlle (IRB Barcelona) andHans Clevers (Hubrecht Institute, the Netherlands), with the support of the BBVA Foundation. During the three-day event, 21 world experts in the field will meet with a further 130 participants to share their latest research findings on tumour stem cells.

“In 2007 we held the first Barcelona BioMed Conference on this topic. At the time there was only very preliminary data on the relationship between stem cells and cancer. Five years on, many convincing data have emerged to indicate that the majority of tumours are indeed fed by tumour stem cells,” explains Hans Clevers, the scientist who first identified stem cells in the intestine and who today is one of the world leaders in research on normal stem cells and their potential for regenerative therapy.

A number of important studies have demonstrated that at the heart of cancers of the breast, colon, skin, brain, lung and leukemias lie a small group of malignant cells that have retained the properties of the stem cell that gave rise to the cancers in the first place. It is these cells that allow the tumour to grow and can regenerate it. The efforts of many research groups worldwide now focusses on unraveling this process, identifying the specific genes that allow it to occur, and finding ways to detect and eliminate these malignant stem cells.

Stem cells and the origin of tumours

One of the principal characteristics of stem cells is that they are able to copy themselves indefinitely, giving rise to one stem cell and one specialized cell. This capacity for unlimited replication ensures the constant renewal of healthy tissues, which is fundamental for survival and is the basis of regenerative medicine. When the stem cells undergo cancerous mutations or when normal tumour cells acquire stem cell properties, however, this can lead to the formation of tumours.

“This conference gives us a valuable opportunity to learn about the latest work on the two types of stem cells, normal and tumour, in different tissues. What we have been observing over recent years is that the tumour mimcs the hierarchies that exist in normal tissues. In order to understand the tumour, we need to understand the healthy tissue. Most of the scientists invited to the conference are working on both aspects,” explains Batlle. The list of speakers includes pioneers in the field, such as Irving L. Weissman, director of the Institute for Stem Cell Biology & Regenerative Medicine in Stanford, California. Weissman, known as the “father of haematopoiesis”, first identified stem cells in the blood and determined how they give rise to the different types of blood cells, making major contributions to our understanding of leukemias and other ‘liquid’ tumours.

Stem cells and metastasis

In addition to being at the root of the tumour and allowing it to grow, stem cells may also cause metastasis. In order for metastasis to occur, cells from the original tumour must escape into the blood stream and invade new organs to seed new tumours there. “Only cells with stem cell properties are able to make this happen, since they are the only type of cell that can generate all the cell types of the tumor,” explains Batlle. But in order to cause metastasis, these cells also need to be able to do other things. “We have discovered that in the case of colon cancer, stem cells must be able to trick the healthy tissue of the organ they have invaded into helping them survive in this hostile environment.” Batlle’s study, to be published tomorrow inCancer Cell, will be presented during the conference. This is the first piece of work to reveal a key role for the tumour microenvironment in fostering the process of metastasis, a discovery which will open doors to similar findings in other types of tumours.

Normal stem cells vs. tumour stem cells

One of the keys in the fight against cancer is the ability to identify tumour stem cells and differentiate them from healthy stem cells. The conference co-organizers maintain that “this is still a central question. We don’t yet know enough about normal stem cells, and technical issues make things difficult. We are making rapid progress, however, and in the next few years we expect to be able to make great strides both in figuring out the similarities and differences in the two types of cells, and in coming up with new strategies to fight the growth and spread of tumours.”

PROFILES OF CONFERENCE CO-ORGANIZERS

EDUARD BATLLE – Group Leader of the Colorectal Cancer Laboratory and Coordinator of the Oncology Programme at IRB Barcelona. ICREA Research Professor (Instituto Catalán para la Investigación y Estudios Avanzados).

Dr. Batlle’s research over the past decade has focused on the characterization of the mechanisms that cause the initiation, progression and metastasis of colon cancer. He has published studies in several high-impact journals such as Cell, Nature, Nature Genetics and Cancer Cell. His achievements include the discovery of the transcription factor Snail in tumour cells and the elucidation of the function of EphB membrane receptors in colorrectal cancer. During the Barcelona BioMed Conference, Dr. Batlle will present the results of a study to be published in Cancer Cell on a process indispensable for colon cancer metastasis.

Among his recognitions, Batlle has received the Banc Sabadell Prize for Biomedical Research (2010) and the “Debiopharm Life Sciences Award for Outstanding Research in Oncology” given by the Ecole Polytechnique Fédérale de Lausanne in Switzerland (2006). He is the recipient of an ERC Starting Grant awarded by the European Research Council in 2007.

 

HANS CLEVERS – Group leader at the Hubrecht Institute (director 2002-2012 ) and President of the Royal Netherlands Academy of Arts and Sciences. Dr. Clevers was the first scientist to identify intestinal stem cells and remains one of the leading researchers in this field. His discoveries have had significant impact in cancer as well as in regenerative therapy with stem cells and in vitro organ culture. Clevers’ work in developmental biology and cancer led him to discover the beta-catenin/Tcf4 transcriptional complex, which causes the majority of colorrectal cancer.

http://apoorvamandavilli.com/wp-content/uploads/2010/10/2010stem-cells-and-cancer.pdf

 

In 1991 Clevers became a professor of immunology at the University Medical Center in Utrecht. Since 2002 he has been a professor of molecular genetics at UMC Utrecht. Also in 2002 he became director of the Hubrecht Institute for Developmental Biology and Stem-Cell Research at the Royal Dutch Academy of Sciences, where until May 2012 he led the WNT Signaling and Cancer research group and was project leader of the Netherlands Proteomics Centre and Cancer Genomics Centre. Clevers discovered similarities between the normal renewal of intestinal tissue and the onset of colon cancer. In 2007 he received a grant of two million euros from the KWF Cancer Society to study the function of stem cells in the normal intestines and in colon cancer, and in 2008 he received an ERC Advanced Investigator Grant. In March 2012, Clevers, who since 2000 had been a member of the Royal Netherlands Academy of Arts and Sciences, was elected its president, a position he assumed on June 1 of that year, succeeding Robbert Dijkgraaf. In connection with his election to this position, he resigned from the Hubrecht Institute and began to carry out research two days a week at the UMC-U.[4][5][6][7][9]

Asked in a 2008 interview what had been the highlights of his research up to that point, Clevers said “there would probably be three. There was a first one, when I just started my lab, within the first few months we cloned the gene that they call TCF1, t-cell factor 1, I used to be a t-cell embryologist when we first started out. And that paper was published in EMBO in ’91, first author. So in that paper we described cloning of this vector, which at that time maybe on the world scale was not great but for my own lab to clone this gene was my first thing I ever did alone. This gene then in ’96 we found to be the crucial missing component of what’s called the Wnt signaling pathway, and this [was] generally seen as a major breakthrough we had. There were papers in ’96 and ’97 in Cell, and we had two papers in Science in the same two years.”

Clevers and his team thus showed that “there is that this TCF transcription factor, there is a small family of them, they occur in every animal on the planet, they are the end point of the signal transcription cascade, and they control virtually every decision in a developing animal. When we realized this we started changing our model systems, we used to work on lymphocytes, and we changed it, first to frogs and flies, drosophila, where the Wnt pathway had been studied by many other people that way we could use assays of those people. We then realized that in mammals Wnt signaling…was not only important in embryos but also crucial in adults, which is novel. And we switched to the gut, we found that one of our knockouts, the TCF4 knockout, one of the four members of that family had no stem cells in the gut. And this is the first link in the literature, this was also a ’97 paper in Nature Genetics, between Wnt signaling and stem cells in adults. And in that same year we found that colon cancer comes about by the disregulation of TCF4, and those two phenomena are really linked. So stem cells need TCF4, cancers disregulate TCF4 by mutating a gene upstream in that pathway called APC.”

After this Clevers’s team “continued to work on the intestine and on the physiology of the intestine, which was essentially an unstudied field, much to my surprise. May I emphasize, there are thousands of very competent embryologists, and they work on tiny details, and they fight over the smallest details, are extremely competent. In this intestinal field there are thousands of gastroentromologists that study cancer or colitis or Crohn’s Disease, but there are very few, if any, labs studying normal tissue, which is amazing because that is a tissue that we use every five days. It’s the most rapidly proliferating tissue in a normal body. So my lab actually build up a lot of mouse models and we learn a lot about how that’s being done, and then finally…last year we finally identified the stem cells in the gut. And we now can purify them in large numbers and study their characteristics.”[4]

A recent posting at the website of the Royal Netherlands Academy of Arts and Sciences provides a capsule summary of Clevers’s research to date: “His research deals with the intestine, in both its healthy and diseased state. He has discovered that there are numerous similarities between the normal process whereby intestinal tissue is renewed and the development of intestinal cancer. Improved understanding of these processes is crucial to developing new ways of treating cancer. Hans Clevers has described the molecular signalling pathways that are disrupted by cancer and has identified a protein that is specific to stem cells in the intestine. He has then been able to grow ‘mini-intestines’ from individual stem cells. These are the first steps on the road to regenerative medicine, in this case the regeneration of intestinal tissue.”[7]

Q&A: Hans Clevers

Eric Bender

Nature 521, S15 (14 May 2015) http://dx.doi.org://10.1038/521S15a

n 2009, Hans Clevers and Toshiro Sato (then a postdoc in Clevers’ lab) demonstrated a powerful new model to study development and disease: a three-dimensional ‘organoid’ derived from adult stem cells that replicates the structure of cells lining the intestine. More than 100 labs worldwide are now working with different types of organoid to study cancer and other diseases. Clevers, at the Hubrecht Institute in Utrecht, the Netherlands, discusses the potential of this approach.

Why might it be better to screen drugs in organoids rather than in cell lines?

We don’t currently understand why certain tumours are sensitive or resistant to particular drugs. With targeted therapies, you can make a prediction, but for classical chemotherapy drugs, such as cisplatin or 5-fluorouracil, it is totally unpredictable which tumours will respond. Tumours can be sequenced in great detail, but drugs against them cannot be tested effectively other than in clinical trials. Organoids are a very good genetic representation of the tumour, so they let us bridge the gap between deep-sequencing efforts and patient outcomes.

How do you see organoids contributing to the study of colorectal cancer?

We are collaborating with groups at the Broad Institute in Cambridge, Massachusetts, and the Sanger Institute in Hinxton, UK, to build a biobank of organoids from 20 or so people with colon cancer. We have organoids of the cancer and of normal cells from individual patients, as well as sequences of their protein-coding genes. We have established the non-profit Hubrecht Organoid Technology (HUB) to expand our organoid biobanks. The HUB shares these biobanks with academic groups around the world, and now works with about 15 companies on drug-development programmes. We can culture tumours from almost every person with colon cancer, sequence them and test them against drugs. Additionally, we can use research techniques that have been developed for cell lines, such as genetic tools, fluorescence-activated cell sorting and microarrays.

Is this research moving towards clinical trials?

Yes, my group and the HUB are collaborating with Emile Voest at the Netherlands Cancer Institute in Amsterdam on an observational trial. We already have some organoid models from people with colon cancer who receive chemotherapy. The organoids are screened against a panel of common colon-cancer drugs. The patients will be treated the same way the oncologists would normally treat them, but we’ll see if we could have predicted the response from our organoids. We’re also starting another trial in which we will enrol advanced-colon-cancer patients, for whom there is no standard treatment. We will make organoids, test drug sensitivity and resistance, and then advise the oncologists as to what drug to use for that particular patient. We will be looking at multiple drugs, so we need large numbers of patients — that’s the only way we will be able to produce enough data to help us match drugs to tumour types.

To benefit individual patients, won’t you need to test the drugs very quickly?

Yes — and that’s really where we want to take this technology. When you have pneumonia, your bacterial cultures are tested and you get answers in three days. With this technology, we can tell the oncologist the best odds for a combination of therapeutics, maybe not in three days, but in several weeks. We have an organoid-based test in cystic fibrosis that gives us a result in about two weeks.

How does the organoid approach differ from patient-derived xenografts, in which patients’ tumours are transplanted into immune-suppressed mice for testing drugs?

It’s the same principle — you get a functional readout of the patient’s tumour. But organoids can be tested against an unlimited amount of compounds and combinations. Furthermore, in contrast to xenografts, organoids can be established from almost all patients.

What are some of the next steps in your cancer research?

Organoids model the key component of the tumour but they lack some important elements. We want to combine organoids with other elements to make more-complete tools. For instance, we would like to introduce the immune system so that we can study the effects of the fantastic new immunotherapy drugs. We think that we can build it up in a reductionist way — take lymphocytes isolated from a tumour, bring these together with cancer organoids derived from the same tumour and watch what happens. And maybe we can also put microorganisms in these organoids. For example, we could add Helicobacter, a major cause of stomach cancer, to stomach organoids.

Can organoids also help to test drug combinations?

Yes, tumours are genetically heterogeneous, and there can be vast differences in drug sensitivity between clones for the same tumour. We can possibly advance sequence-based therapy by testing millions of drug combinations in organoids.

Single Lgr5 stem cells build crypt–villus structures in vitro without a mesenchymal niche

Toshiro Sato1, Robert G. Vries1, Hugo J. Snippert1, Marc van de Wetering1, Nick Barker1, Daniel E. Stange1, Johan H. van Es1, Arie Abo2, Pekka Kujala3, Peter J. Peters3 & Hans Clevers1
Nature 459, 262-265 (14 May 2009) |   http://dx.doi.org:/10.1038/nature07935    Received 16 July 2008; Accepted 24 February 2009

The intestinal epithelium is the most rapidly self-renewing tissue in adult mammals. We have recently demonstrated the presence of about six cycling Lgr5+ stem cells at the bottoms of small-intestinal crypts1. Here we describe the establishment of long-term culture conditions under which single crypts undergo multiple crypt fission events, while simultanously generating villus-like epithelial domains in which all differentiated cell types are present. Single sorted Lgr5+ stem cells can also initiate these crypt–villus organoids. Tracing experiments indicate that the Lgr5+ stem-cell hierarchy is maintained in organoids. We conclude that intestinal crypt–villus units are self-organizing structures, which can be built from a single stem cell in the absence of a non-epithelial cellular niche.

  • A Model for Life
Dis. Model. Mech. September 2013, doi: 10.1242/dmm.013367 vol. 6 no. 5 1053-1056

A gutsy approach to stem cells and signalling: an interview with Hans Clevers

Hans Clevers, Professor of Molecular Genetics at Utrecht University, began his career in immunology and developmental biology, but a shift towards intestinal research in the late 1990s led to his group’s pioneering discovery that Lgr5 is a marker of tissue stem cells – a finding that paved the way for a cascade of key insights into the molecular signalling pathways that are dysregulated in cancer. Interviewed here by Ross Cagan, Editor-in-Chief of Disease Models & Mechanisms, Hans recalls the mentors and discoveries that motivated his transition from basic to applied science, discusses his style of lab management and mentorship, and highlights the potential of organoid-based therapy for personalised medicine.

Johannes (Hans) Clevers was born in 1957 in Eindhoven, home to Philips Electronics, in the south of The Netherlands. From a young age he showed enthusiasm and a natural talent for science, and as an undergraduate became fascinated with molecular biology. He obtained his PhD in immunology from Utrecht University during the mid-1980s, and simultaneously studied medicine. Making the pivotal decision to move back into the lab after completing his clinical training, he undertook postdoctoral research in Cox Terhorst’s lab at the Dana-Farber Cancer Institute at Harvard University. He then returned to Utrecht to set up his own lab, and was a Professor of Immunology at the university between 1991 and 2002. From 2002 to 2012 he was Director of the nearby Hubrecht Institute for Stem Cell Research. During this time, Hans moved gradually into the gastroenterology field, and made groundbreaking discoveries regarding the role of Wnt signalling in stem cells and colon cancer. His unique contributions to cancer, stem cell research and regenerative medicine have been recognised in the form of numerous awards, and in 2013 he was one of the eleven winners of a $3 million award from the Breakthrough Prize in Life Sciences Foundation. Currently, he is Professor of Molecular Genetics at Utrecht University, and is also President of the Royal Netherlands Academy of Arts and Sciences (KNAW). Hans has also been involved in setting up several biotechnology companies.

Before we get to your background, I want to congratulate you on being, unsurprisingly, one of the Breakthrough Prize award winners. You have a long list of prizes now – is it something you’ve gotten used to?

This last one was unusual for me – prior to the Breakthrough award I had only ever received one American prize and that was in gastroenterology. To be the only researcher in Europe awarded, and to see my name on the list together with people like Robert Weinberg and Bert Vogelstein, who were the big shots when I was a postdoc, was a truly great honour. I went to the ceremony for the physics prize in Geneva, and it was like being at the Oscars – very surreal, as a scientist.

The first thing I did when I found out about my award was to invite the current and previous members of my lab to a huge party in Amsterdam, which will take place in September [2013]. There will be around 100 attendees – most of which are still in science. There will be good food and drink, stand-up comedy, and a small symposium.

Taking a step back into your past, why did you choose a career in science and medicine?

My high school system was very geared towards languages. I started learning biology at university in 1975 at the age of 18, and I was disappointed. Molecular biology was being developed in England, Switzerland and the US, but in Dutch universities there was no legal framework to do this, and so the courses – where available – focused only on technical details. Biology in general lacked charisma. At the time, my friends and brothers were junior medics, and as I had an interest in medicine I decided to take it on in addition to biology. I ended up spending a year in Nairobi and half a year at NIH for my biology rotations, and essentially I never went to any lectures (although this is something I never tell my students!). Anyway, I really started getting sucked into the clinical training, and found that working in a clinical environment is much more sociable than being in a lab. You’re part of a big organisation and there are lots of people to talk to, whereas in the lab there are only a few people, and small issues – such as somebody not cleaning up – can really cause friction. After medical school, I was picked, mainly because of my research background, for a training position in paediatrics. They suggested that I should start work for a PhD, so I went back into the lab. That’s when I realised that, despite the social attractiveness of working in a hospital, I was much more of a scientist than a doctor. I got my PhD – together with four published papers – in just 1 year. However, it was during my first postdoc position in Boston that I think I was really exposed to science for the first time. It was tough, but I knew I’d made the right decision.

Are there particular mentors who influenced your decision to choose the lab over clinics, and shaped your career moves?

When I received the Heineken Prize from the Royal Netherlands Academy of Arts and Sciences in 2012, I had to think deeply about my mentors and realised that there were two that I had almost forgotten. The first was my high school chemistry teacher, who sold laboratory chemicals to students from his home, during the evenings (in a well-regulated way). I had built a small lab in the attic of my parents’ house and I really had fun mixing things together and doing all the experiments that are possible to do at home. Because of this chemistry teacher, I learned the joy of being in a lab.

The second crucial mentor was my thesis advisor, who didn’t supervise me very much but did give me key advice that has stayed with me until now. He taught me that it’s important to trust everybody you work with, at least until they show you that they can’t be trusted. I emphasize this in my own lab – I encourage my students and postdocs to be open and transparent and to discuss their work. Some scientists are intuitively secretive and paranoid – cultural differences perhaps play a part in this. In my view, only when someone damages your trust can you justify being paranoid, and until then it is important to share information.

“…it’s important to trust everybody you work with, at least until they show you that they can’t be trusted”

There are many ways to run a lab; for example, you can micro-manage it or you can focus on the big picture and step back from the day-to-day issues. What is your style of running a lab?

When I first became a PI, I really liked doing experimental work. Even after 5 years as a postdoc, I enjoyed doing minipreps! As a consequence, I really micro-managed the few lab members I had, and I’m sure they were ultimately happy to get away from me. But when the lab grew a little bigger and I became Head of Department, it took me away from the lab much of the time. Nowadays, I informally talk with my lab colleagues as much as I can, preferably at the bench. As we speak, I know that there is someone in my group who will find out the results of a 3-month effort, today. I always insist on looking at the raw data, never the digested, analysed data. It could be 5 minutes or 2 hours, but when I’m needed in the lab I will always try to make time for it and be part of the troubleshooting process. When you can no longer troubleshoot in your own lab, you’re lost.

Well clearly success builds on success – some impressive scientists have come out of your lab. Do you encourage all of your group members to pursue academic positions?

I’ve had many ‘super postdocs’ in my lab but some of these individuals would not be happy as PIs. It’s not about capability, but about wanting to deal with the paperwork, the responsibility and the decision-making that come with being a PI. Such individuals can make a valuable contribution to a lab, given their years of experience, as well as acting as great mentors and role models for the newer group members. When, having gained experience in the pharmaceutical industry, Nick Barker re-joined my group in 2006 as Senior Staff Scientist, we spent 6–7 years looking for stem cell markers, and then broke open the field by identifying Lgr5 as a marker of cancer stem cell populations. Nick has now set up his own group in Singapore, but I have had several other very talented experimentalists in my lab for many years. Overall, I think that intermediate positions are fantastic for successful postdocs who might end up unhappy as PIs.

How did you get involved with intestinal stem cell research? You didn’t start in this field but somehow ended up there.

As an undergraduate student, I did a brief rotation project on T cells. This led to a PhD and postdoc focused on T cells. I learned molecular biology, which inspired me to clone a T-lymphocyte transcription factor, TCF-1, when I subsequently set up my own lab in Holland. We (Marc van der Wetering and I) cloned TCF-1 within a few months and showed that it binds DNA; but, despite trying all kinds of functional assays, we couldn’t show that it regulates transcription. It took 6 or 7 years to figure out that β-catenin, a signal transducer in the Wnt signalling pathway, was needed. We heard that Walter Birchmeier had made a complementary discovery in Berlin, and our papers came out at the same time.

Around that time, I was Clinical Professor in Immunology at Utrecht, and I started studying TCFs in mice, frogs, flies and worms. We soon established that TCFs are always the endpoint of the Wnt pathway. In 1996–1997, we knocked out TCF-4 in mice and, remarkably, observed a gut phenotype – the mice had no crypts. Simultaneously, we realised that the pathway is overactivated in colon cancer. That’s when I decided to move into studying the gut. It wasn’t easy as an immunologist, but I gradually got to know the gastroenterology field. At the time, this field was dominated by clinical research, and in fact our work didn’t really become known to gastroenterologists until around 3–4 years ago. They were totally unaware that mice could give clues about human disease, which surprised me, as in haematology and immunology, there is a good balance between basic and clinical science. There are other clinically well-developed fields, such as prostate and lung cancer research, that could really benefit from a stronger basic approach.

A key discovery for you was that Lgr5 is a marker of stem cells. When did you realise the implications of this discovery?

There were two ‘eureka’ moments with the stem cell story. The dogma at the time was the ‘+4’ stem cell model, which was pioneered by Chris Potten, who recently passed away. I tried to provide experimental support for this model, together with Nick Barker, but it never really went anywhere. Having realised that β-catenin and TCFs controlled crypts in the gut and cancer, we set out to determine the genetic programme controlled by this pathway. At the time (1997), there was no technology to do this properly, but in 2000 we performed one of the first microarrays with Pat Brown. Our array looked at expression in a colon cancer cell line. The array contained only two samples – plus or minus the Wnt pathway – but it opened the field for us by providing a list of markers to investigate further. This was the first, key step. From the list of markers, we picked a few that we thought were marking +4 cells, but these led us nowhere. Eventually, based on its unique expression pattern, we came up with Lgr5. We made numerous mouse strains, including Lgr5-GFP tagged mice. The moment we saw tiny cells lighting up under the microscope, I started writing our next ten big papers in my head. It was a remarkable moment – the cells exist, and we could visualise them using these mice.

And why exactly is Lgr5 so important, both from a basic and an applied standpoint?

Lgr5 is an exquisite protein. We and several other labs have shown that it is a marker for stem cells in many tissues. Originally, we saw it only in spontaneously dividing tissues, but we’ve recently found that it also appears in organs that have undergone damage. Lgr5 is unique in that it – on its own – it specifically marks homogenous populations of stem cells but not their progenitors, unlike most other markers. We now know that this is because it is a cell surface receptor protein in the Wnt pathway, and only stem cells require Wnts. In the gut, the stem cells are particularly active – in mice, they divide every day for 2.5 years, so they go through a thousand cell divisions.

Discovering Lgr5 led to another eureka moment: the generation of long-term culture systems that maintain crypt physiology. A Japanese gastroenterologist who I invited to my lab, Toshiro Sato, was the first to set up the right culture conditions, and now multiple labs are creating these systems, which are called organoids or ‘mini-guts’. Once the system was up and running, Toshiro showed that Paneth cells provide the niche for stem cells at crypt bottoms, and that stem cells produce their own daughters which then produce growth factors. With his former Japanese lab, we showed that normal tissue can be generated from a single stem cell, and it can survive in a mouse for as long as you want. Based on this finding, our lab evolved and now we’re culturing prostate, liver, pancreas, kidney, lung and breast tissue, all for prolonged periods of time, all from humans. There are no changes in chromosomal structure in the cultured cells, and deep sequencing reveals very few mutations. The next step will be to take single cells, genetically modify them like we do with embryonic stem cells, pick a safe clone, expand it and use it for therapy, particularly transplantation.

Do you think we will be able to take organoid-based therapy to the personalised level? Colorectal cancer, for example, only has a 3% success rate in clinical trials. Are organoids going to provide the answer?

We’re finalising a pilot sequencing study now involving 20 patients with normal crypts and colon cancer. With the wild-type and colon cancer organoids, we can potentially predict patient outcome and response to drugs. In the future, we hope to rapidly build large, living biobanks for other cancers, too. In line with this, we’re building up a ‘Stand Up 2 Cancer’ dream team involving several American labs and the Sanger Institute, with the aim of taking the organoid approach to the next level in cancer therapy. Sanger has robotised screening set-ups that allow thousands of compounds to be screened across hundreds of cell lines. We can now do this with patient-derived organoids. From these tests we could establish new effective drug combinations, and we could link genetics to function to help design smarter trials. The great thing about organoids is that they contain only epithelium – there is no immune system, no blood system, only the diseased tissue, making it a very clean system.

We’ve also recently collaborated with clinicians on a cystic fibrosis project. We can predict using cystic fibrosis ‘mini-guts’ that certain drugs that are currently in trials will work for one patient and not for another, and that certain drug combinations work better than others. From biopsy to drug response, it takes only 10 days. Industry is now very interested in using this assay to pre-screen and design trials.

“The great thing about organoids is that they contain only epithelium – there is no immune system, no blood system, only the diseased tissue, making it a very clean system”

In the past, you’ve suggested that classic hypothesis-driven science isn’t the right way to do science. Could you say a little bit more about this?

Now that I’m a bit older I’m more interested in how the process of science works. I always ask my colleagues: how do you run the lab and how do you make discoveries? In my lab, I try to establish a reproducible, quantitative system, like GFP mice and arrays. Then, I throw something at the system and look, without formulating a hypothesis. This is difficult because our brains like to produce causal relationships, even though these are often wrong. I’m constantly telling my group members that they should keep their minds open and make observations without assuming that they know what’s going on. In molecular biology, we can go anywhere we want and there are billions of effects to discover. You cannot do this in a hypothesis-driven way because you’re essentially retracing evolution. There are many solutions to a particular problem but evolution picked one – it’s very arrogant to think we can reconstruct this in our minds.

Some of my most elegant hypotheses have fallen by the wayside. The importance of establishing formal rules for innovation is a discussion worth having in biology. I understand that you have embraced movies to explain scientific concepts. What’s the story behind this?

I was inspired by Leonard Zon – I came across one of his movies about 8 years ago. I realised it’s much easier to convey messages visually than in words so I started working with a small company in Holland to produce science movies. The lab provides the idea and the images, and the company writes the script. We end up going back and forth a few times to make the message as accurate as possible, and it really shows us as scientists how ambiguous language can be. Often, feedback from the company sends us back into the lab to find out something we hadn’t looked into, for example how fast do the cells move, how many cells are there? Gradually, the movie comes together. Nowadays, I typically use the movies in my talks to explain a problem, and I’ve found that it’s much more effective to show the movie before explaining the experiments. People understand the experiments much better that way, and listen effortlessly. Now, whenever we have a story to write up I try to turn it into a 30-second movie before putting pen to paper. This really forces us to think about the core of the paper.

“In molecular biology, we can go anywhere we want and there are billions of effects to discover…There are many solutions to a particular problem but evolution picked one – it’s very arrogant to think we can reconstruct this in our minds”

In your view, is being a scientist a good career choice? What advice would you give to a young scientist thinking about this career?

Science is frustrating because things don’t work 90% of the time: ideas are wrong, experiments fail. You have to have the personality that thrives by those few fantastic moments of success that you have once a year or even once a career. Moving from being a clinician to being a scientist was one of the hardest decisions I ever made. A clinician gets rewards multiple times a day, so if you’re a person who needs that kind of reward and social interaction, then you shouldn’t be a scientist. Luckily there are now many alternative careers, such as pharma, government and teaching, that didn’t exist when I was a young scientist. However, there needs to be a radical change in the way we view these alternative routes. Maybe in the US it’s different, but here, if you step out of the system you are treated like a failure. I tell young scientists that failure comes with ending up as a miserable PI, with no funding and no papers.

PhD students and junior postdocs have to be aware that the people they see at meetings who give the great talks are in the minority – as scientists we have to be ready to do something else at any point during our career. I think the whole system has to realise that every other job can be as interesting as a job in science. That’s not what we always convey to young people – we describe academia as where it’s happening and everything else as dull or uncreative.

If you hadn’t chosen science as a career, what would you have done instead?

I would probably be a novelist. It’s even more competitive than being a scientist, but it’s also creative, so the perfect blend for me.

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CRISPR/Cas-mediated Genome Engineering

Curator: Larry H. Bernstein, MD, FCAP

UPDATED on 10/9/2015

2.1.5.27

2.1.5.27   CRISPR/Cas-mediated Genome Engineering, Volume 2 (Volume Two: Latest in Genomics Methodologies for Therapeutics: Gene Editing, NGS and BioInformatics, Simulations and the Genome Ontology), Part 2: CRISPR for Gene Editing and DNA Repair

Cpf1 Is a Single RNA-Guided Endonuclease of a Class 2 CRISPR-Cas System

Bernd Zetsche10

,

Jonathan S. Gootenberg10

,

Omar O. Abudayyeh

,

Ian M. Slaymaker

,

Kira S. Makarova

,

Patrick Essletzbichler

,

Sara E. Volz

,

Julia Joung

,

John van der Oost

,

Aviv Regev

,

Eugene V. Koonin

,

Feng Zhangcorrespondence
10Co-first author
Publication stage: In Press Corrected Proof

Highlights

  • •CRISPR-Cpf1 is a class 2 CRISPR system
  • •Cpf1 is a CRISPR-associated two-component RNA-programmable DNA nuclease
  • •Targeted DNA is cleaved as a 5-nt staggered cut distal to a 5′ T-rich PAM
  • •Two Cpf1 orthologs exhibit robust nuclease activity in human cells

Summary

The microbial adaptive immune system CRISPR mediates defense against foreign genetic elements through two classes of RNA-guided nuclease effectors. Class 1 effectors utilize multi-protein complexes, whereas class 2 effectors rely on single-component effector proteins such as the well-characterized Cas9. Here, we report characterization of Cpf1, a putative class 2 CRISPR effector. We demonstrate that Cpf1 mediates robust DNA interference with features distinct from Cas9. Cpf1 is a single RNA-guided endonuclease lacking tracrRNA, and it utilizes a T-rich protospacer-adjacent motif. Moreover, Cpf1 cleaves DNA via a staggered DNA double-stranded break. Out of 16 Cpf1-family proteins, we identified two candidate enzymes from Acidaminococcus and Lachnospiraceae, with efficient genome-editing activity in human cells. Identifying this mechanism of interference broadens our understanding of CRISPR-Cas systems and advances their genome editing applications.

VIEW IMAGE and SOURCE

http://www.cell.com/cell/abstract/S0092-8674%2815%2901200-3

SOURCE

https://www.broadinstitute.org/news/7272

Series E. 2: 7.5

Rudolf Jaenisch

One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering

Haoyi Wang6, Hui Yang6, Chikdu S. Shivalila6, Meelad M. Dawlaty, Albert W. Cheng, Feng Zhang, Rudolf Jaenisch
Cell May 2013; 153: 4(9), p910–918  http://dx.doi.org/10.1016/j.cell.2013.04.025

Highlights

  • •CRISPR/Cas9-mediated simultaneous targeting of five genes in mES cells
  • •Generation of Tet1/Tet2 double-mutant mice in one step
  • •Generation of Tet1/Tet2 double-mutant mice with predefined mutations in one step

Summary

Mice carrying mutations in multiple genes are traditionally generated by sequential recombination in embryonic stem cells and/or time-consuming intercrossing of mice with a single mutation. The CRISPR/Cas system has been adapted as an efficient gene-targeting technology with the potential for multiplexed genome editing. We demonstrate that CRISPR/Cas-mediated gene editing allows the simultaneous disruption of five genes (Tet1, 2, 3, Sry, Uty – 8 alleles) in mouse embryonic stem (ES) cells with high efficiency. Coinjection of Cas9 mRNA and single-guide RNAs (sgRNAs) targeting Tet1 and Tet2 into zygotes generated mice with biallelic mutations in both genes with an efficiency of 80%. Finally, we show that coinjection of Cas9 mRNA/sgRNAs with mutant oligos generated precise point mutations simultaneously in two target genes. Thus, the CRISPR/Cas system allows the one-step generation of animals carrying mutations in multiple genes, an approach that will greatly accelerate the in vivo study of functionally redundant genes and of epistatic gene interactions.

Generating genetically modified mice using CRISPR/Cas-mediated genome engineering

Hui Yang, Haoyi Wang & Rudolf Jaenisch
Nature Protocols  2014; 9, 1956–1968.   http://dx.doi.org:/10.1038/nprot.2014.134

Mice with specific gene modifications are valuable tools for studying development and disease. Traditional gene targeting in mice using embryonic stem (ES) cells, although suitable for generating sophisticated genetic modifications in endogenous genes, is complex and time-consuming. We have recently described CRISPR/Cas-mediated genome engineering for the generation of mice carrying mutations in multiple genes, endogenous reporters, conditional alleles or defined deletions. Here we provide a detailed protocol for embryo manipulation by piezo-driven injection of nucleic acids into the cytoplasm to create gene-modified mice. Beginning with target design, the generation of gene-modified mice can be achieved in as little as 4 weeks. We also describe the application of the CRISPR/Cas technology for the simultaneous editing of multiple genes (five genes or more) after a single transfection of ES cells. The principles described in this protocol have already been applied in rats and primates, and they are applicable to sophisticated genome engineering in species in which ES cells are not available.

Our long-range goals are to understand epigenetic regulation of gene expression in mammalian development and disease. An important question is to understand the different epigenetic conformations that distinguish differentiated cell states and to define strategies to transdifferentiate one differentiated cell type into another. Embryonic stem cells are of major significance because they have the potential to generate any cell type in the body and, therefore, are of great interest for regenerative medicine. A major focus of our work is to understand the molecular mechanisms that allow the reprogramming of somatic cells to an embryonic pluripotent state and to use the potential of patient specific pluripotent cells to study complex human diseases.

One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering

Haoyi Wang1, 6, Hui Yang1, 6, Chikdu S. Shivalila1, 2, 6, Meelad M. Dawlaty1, Albert W. Cheng1, 3, Feng Zhang4, 5, Rudolf Jaenisch1, 3,

Cell  May 2013; 153(4): 910–918  http://dx.doi.org:/10.1016/j.cell.2013.04.025

Highlights

  • CRISPR/Cas9-mediated simultaneous targeting of five genes in mES cells
  • Generation of Tet1/Tet2 double-mutant mice in one step
  • Generation of Tet1/Tet2 double-mutant mice with predefined mutations in one step

Mice carrying mutations in multiple genes are traditionally generated by sequential recombination in embryonic stem cells and/or time-consuming intercrossing of mice with a single mutation. The CRISPR/Cas system has been adapted as an efficient gene-targeting technology with the potential for multiplexed genome editing. We demonstrate that CRISPR/Cas-mediated gene editing allows the simultaneous disruption of five genes (Tet1, 2, 3, Sry, Uty – 8 alleles) in mouse embryonic stem (ES) cells with high efficiency. Coinjection of Cas9 mRNA and single-guide RNAs (sgRNAs) targeting Tet1 and Tet2 into zygotes generated mice with biallelic mutations in both genes with an efficiency of 80%. Finally, we show that coinjection of Cas9 mRNA/sgRNAs with mutant oligos generated precise point mutations simultaneously in two target genes. Thus, the CRISPR/Cas system allows the one-step generation of animals carrying mutations in multiple genes, an approach that will greatly accelerate the in vivo study of functionally redundant genes and of epistatic gene interactions.

Genetically modified mice represent a crucial tool for understanding gene function in development and disease. Mutant mice are conventionally generated by insertional mutagenesis (Copeland and Jenkins, 2010; Kool and Berns, 2009) or by gene-targeting methods (Capecchi, 2005). In conventional gene-targeting methods, mutations are introduced through homologous recombination in mouse embryonic stem (ES) cells. Targeted ES cells injected into wild-type (WT) blastocysts can contribute to the germline of chimeric animals, generating mice containing the targeted gene modification (Capecchi, 2005). It is costly and time consuming to produce single-gene knockout mice and even more so to make double-mutant mice. Moreover, in most other mammalian species, no established ES cell lines are available that contribute efficiently to chimeric animals, which greatly limits the genetic studies in many species.

Alternative methods have been developed to accelerate the process of genome modification by directly injecting DNA or mRNA of site-specific nucleases into the one-cell embryo to generate DNA double-strand break (DSB) at a specified locus in various species (Bogdanove and Voytas, 2011; Carroll et al., 2008; Urnov et al., 2010). DSBs induced by these site-specific nucleases can then be repaired by error-prone nonhomologous end joining (NHEJ) resulting in mutant mice and rats carrying deletions or insertions at the cut site (Carbery et al., 2010; Geurts et al., 2009; Sung et al., 2013;Tesson et al., 2011). If a donor plasmid with homology to the ends flanking the DSB is coinjected, high-fidelity homologous recombination can produce animals with targeted integrations (Cui et al., 2011; Meyer et al., 2010). Because these methods require the complex designs of zinc finger nucleases (ZNFs) or Transcription activator-like effector nucleases (TALENs) for each target gene and because the efficiency of targeting may vary substantially, no multiplexed gene targeting in animals has been reported to date. To dissect the functions of gene family members with redundant functions or to analyze epistatic relationships in genetic pathways, mice with two or more mutated genes are required, prompting the development of efficient technology for the generation of animals carrying multiple mutated genes.

Recently, the type II bacterial CRISPR/Cas system has been demonstrated as an efficient gene-targeting technology with the potential for multiplexed genome editing. Bacteria and archaea have evolved an RNA-based adaptive immune system that uses CRISPR (clustered regularly interspaced short palindromic repeat) and Cas (CRISPR-associated) proteins to detect and destroy invading viruses and plasmids (Horvath and Barrangou, 2010; Wiedenheft et al., 2012). Cas proteins, CRISPR RNAs (crRNAs), andtrans-activating crRNA (tracrRNA) form ribonucleoprotein complexes, which target and degrade foreign nucleic acids, guided by crRNAs ( Gasiunas et al., 2012; Jinek et al., 2012). It was shown that the Cas9 endonuclease from Streptococcus pyogenes type II CRISPR/Cas system can be programmed to produce sequence-specific DSB in vitro by providing a synthetic single-guide RNA (sgRNA) consisting of a fusion of crRNA and tracrRNA ( Jinek et al., 2012). More intriguingly, Cas9 and sgRNA are the only components necessary and sufficient for induction of targeted DNA cleavage in cultured human cells ( Cho et al., 2013; Cong et al., 2013; Mali et al., 2013) as well as in zebrafish (Chang et al., 2013; Hwang et al., 2013). A recent report also demonstrated disruption of a GFP transgene in mice using the CRISPR/Cas system ( Shen et al., 2013). The ease of design, construction, and delivery of multiple sgRNAs suggest the possibility of multiplexed genome editing in mammals. Indeed, one study demonstrated that two loci separated by 119 bp could be cleaved simultaneously in cultured human cells at a low efficiency ( Cong et al., 2013). The extent of achievable multiplexed genome editing has yet to be demonstrated in stem cells as well as in animals. Here, we use the CRISPR/Cas system to drive both NHEJ-based gene disruption and homology directed repair (HDR)-based precise gene editing to achieve highly efficient and simultaneous targeting of multiple genes in stem cells and mice.

Simultaneous Targeting up to Five Genes in ES Cells

To test whether the CRISPR/Cas system could produce targeted cleavage in the mouse genome, we transfected plasmids expressing both the mammalian-codon-optimized Cas9 and a sgRNA targeting each gene ( Cong et al., 2013; Mali et al., 2013) into mouse ES cells and determined the targeted cleavage efficiency by the Surveyor assay ( Guschin et al., 2010). All three Cas9-sgRNA transfections produced cleavage at target loci with high efficiency of 36% at Tet1, 48% atTet2, and 36% at Tet3 ( Figure 1B). Because each target locus contains a restriction enzyme recognition site ( Figure 1A), we PCR amplified an ∼500 bp fragment around each target site and digested the PCR products with the respective enzyme. A correctly targeted allele will lose the restriction site, which can be detected by failure to cleave upon enzyme treatment. Using this restriction fragment length polymorphism (RFLP) assay, we screened 48 ES cell clones from each single-targeting experiment. Consistent with the Surveyor analysis, a high percentage of ES cell clones were targeted, with a high probability of having both alleles mutated ( Figure S1A available online). The results summarized in Table 1 demonstrate that between 65% and 81% of the tested ES cell clones carried mutations in the Tet genes with up to 77% having mutations in both alleles.

Figure 1.

Multiplexed Gene Targeting in mouse ES cells

(A) Schematic of the Cas9/sgRNA-targeting sites in Tet1, 2, and 3. The sgRNA-targeting sequence is underlined, and the protospacer-adjacent motif (PAM) sequence is labeled in green. The restriction sites at the target regions are bold and capitalized. Restriction enzymes used for RFLP and Southern blot analysis are shown, and the Southern blot probes are shown as orange boxes.

(B) Surveyor assay for Cas9-mediated cleavage at Tet1, 2, and 3 loci in ES cells.

(C) Genotyping of triple-targeted ES cells, clones 51, 52, and 53 are shown. Upper: RFLP analysis. Tet1PCR products were digested with SacI, Tet2 PCR products were digested with EcoRV, and Tet3 PCR products were digested with XhoI. Lower: Southern blot analysis. For the Tet1 locus, SacI digested genomic DNA was hybridized with a 5′ probe. Expected fragment size: WT = 5.8 kb, TM (targeted mutation) = 6.4 kb. For the Tet2 locus, SacI, and EcoRV double-digested genomic DNA was hybridized with a 3′ probe. Expected fragment size: WT = 4.3 kb, TM = 5.6 kb. For the Tet3 locus, BamHI and XhoI double-digested genomic DNA was hybridized with a 5′ probe. Expected fragment size: WT = 3.2 kb, TM = 8.1 kb.

(D) The sequence of six mutant alleles in triple-targeted ES cell clone 14 and 41. PAM sequence is labeled in red.

(E) Analysis of 5hmC levels in DNA isolated from triple-targeted ES cell clones by dot blot assay using anti-5hmC antibody. A previously characterized DKO clone derived using traditional method is used as a control. See also Figure S1.

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Figure S1.

Single-, Triple-, and Quintuple-Gene Targeting in mES Cells, Related to Figure 1

(A) RFLP analysis of clones from each single-targeting experiment (1 to 17 are shown).

(B) RFLP analysis of triple-gene-targeted clones (37 to 53 are shown). Tet1 PCR products were digested with SacI, Tet2 PCR products were digested with EcoRV, and Tet3 PCR products were digested with XhoI. WT control is shown in the last lane. Genotyping of clone 51, 52, and 53 are also shown in Figure 1C.

(C) Schematic of the Cas9/sgRNA-targeting sites in Sry and Uty. The sgRNA-targeting sequence is underlined, and the protospacer-adjacent motif (PAM) sequence is labeled in green. The restriction sites at the target regions are bold and capitalized. Restriction enzymes used for RFLP analysis are shown.

(D) RFLP analysis of quintuple-gene-targeted clones (1 to 10 are shown). Sry PCR products were digested with BsaJI, Uty PCR products were digested with AvrII. WT control is shown in the last lane. RFLP analysis of Tet1, 2, 3 loci are not shown.

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Table 1.

CRISPR/Cas-Mediated Gene Targeting in V6.5 ES Cells

Mutant Alleles per Clone / Total Clones Tested
Gene 6 5 4 3 2 1 0
Tet1 N/A 27/48 4/48 17/48
Tet2 37/48 2/48 9/48
Tet3 32/48 3/48 13/48
Tet1+ Tet2 + Tet3 20/96 16/96 2/96 2/96 1/96 0/96 55/96

Plasmids encoding Cas9 and sgRNAs targeting Tet1, Tet2, and Tet3 were transfected separately (single targeting) or in a pool (triple targeting) into ES cells. The number of total alleles mutated in each ES cell clone is listed from 0 to 2 for single-targeting experiment, and 0 to 6 for triple-targeting experiment. The number of clones containing each specific number of mutated alleles is shown in relation to the total number of clones screened in each experiment. See also Table S1.

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The high efficiency of single-gene modification prompted us to test the possibility of targeting all three genes simultaneously. For this we cotransfected ES cells with the constructs expressing Cas9 and three sgRNAs targeting Tet1, 2, and 3. Of 96 clones screened using the RFLP assay, 20 clones were identified as having mutations in all six alleles of the three genes ( Figures 1C and S1B and Table 1). To exclude that a PCR bias could give false positive results, we performed Southern blot analysis and confirmed complete agreement with the RFLP results ( Figure 1C). We subcloned and sequenced the PCR products of Tet1-, Tet2-, and Tet3-targeted regions to verify that all of eight tested clones carried biallelic mutations in all three genes with most clones displaying two mutant alleles for each gene with small insertions or deletions (indels) at the target site ( Figure 1D). To test whether these mutant alleles would abolish the function of Tet proteins, we compared the 5hmC level of targeted clones to WT ES cells. Previously, we reported a depletion of 5hmC in Tet1/Tet2 double-knockout ES cells derived using traditional gene-targeting methods ( Dawlaty et al., 2013). As expected from loss of function alleles, we found a significant reduction of 5hmC levels in all clones carrying biallelic mutations in the three genes ( Figure 1E).

To further test the potential of multiplexed gene targeting by CRISPR/Cas system, we designed sgRNAs targeting two Y-linked genes, Sry and Uty ( Figure S1C). Short PCR products encoding sgRNAs targeting all five genes (Tet1, Tet2, Tet3, Sry, and Uty) were pooled and cotransfected with a Cas9 expressing plasmid and the PGK puroR cassette into ES cells. Of 96 clones that were screened using the RFLP assay, 10% carried mutations in all eight alleles of the five genes ( Figure S1D and Table S1), demonstrating the capacity of the CRISP/Cas9 system for highly efficient multiplexed gene targeting.

One-Step Generation of Single-Gene Mutant Mice by Zygote Injection

We tested whether mutant mice could be generated in vivo by direct embryo manipulation. Capped polyadenylated Cas9 mRNA was produced by in vitro transcription and coinjected with sgRNAs. Initially, to determine the optimal concentration of Cas9 mRNA for targeting in vivo, we microinjected varying amounts of Cas9-encoding mRNA with Tet1 targeting sgRNA at constant concentration (20 ng/μl) into pronuclear (PN) stage one-cell mouse embryos and assessed the frequency of altered alleles at the blastocyst stage using the RFLP assay. As expected, higher concentration of Cas9 mRNA led to more efficient gene disruption ( Figure S2A). Nevertheless, even embryos injected with the highest amount of Cas9 mRNA (200 ng/μl) showed normal blastocyst development, suggesting low toxicity.

Figure S2.

One-Step Generation of Single-Gene Mutant Mice by Zygote Injection, Related to Figure 2

(A) RFLP analysis of blastocysts injected with different concentration of Cas9 mRNA and Tet1 sgRNA at 20 ng/μl. Tet1 PCR products were digested with SacI.

(B) Commonly recovered Tet1 and Tet2 alleles resulted from MMEJ. PAM sequence of each targeting sequence is labeled in green. Microhomology flanking the DSB is bold and underlined in WT sequence.

(C) RFLP analysis of eight Tet3-targeted blastocysts demonstrated high targeting efficiency (embryo 3 and 5 failed to amplify). Tet3 PCR products were digested with XhoI.

(D) Some Tet3-targeted mice show smaller size and all homozygous mutants died within 1 day after birth.

(E) RFLP analysis of Tet3 single-targeted newborn mice. Mouse 8 and 14 survived after birth. Sample 2 and 6 failed to amplify.

(F) Sequences of both Tet3 alleles of surviving Tet3-targeted mouse 14. PAM sequences are labeled in red.

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To investigate whether postnatal mice carrying targeted mutations could be generated, we coinjected sgRNAs targeting Tet1or Tet2 with different concentrations of Cas9 mRNA. Blastocysts derived from the injected embryos were transplanted into foster mothers and newborn pups were obtained. As summarized in Table 2, about 10% of the transferred blastocysts developed to birth independent of the RNA concentrations used for injection suggesting low fetal toxicity of the Cas9 mRNA and sgRNA. RFLP, Southern blot, and sequencing analysis demonstrated that between 50 and 90% of the postnatal mice carried biallelic mutations in either target gene ( Figures 2A, 2B, and 2C and Table 2).

Table 2.

CRISPR/Cas-Mediated Single-Gene Targeting in BDF2 Mice

Gene Cas9/sg RNA (ng/μl) Blastocysts/Injected Zygotes Transferred Embryos (Recipients) Newborns (Dead) Mutant Alleles per Mouse/Total Mice Testeda
2 1 0
Tet1 200/20 38/50 19 (1) 2 (0) 2/2 0/2 0/2
100/20 50/60 25 (1) 3 (0) 2/3 0/3 1/3
50/20 40/50 40 (2) 8 (3) 4/7 2/7 1/7
100/50 167/198 60 (3) 12 (2) 9/11 1/11 1/11
Tet2 100/50 176/203 108 (5) 22 (3) 19/20 0/20 1/20
Tet3 100/50 85/112 64 (4) 15 (13) 9/13 2/13 2/13

Cas9 mRNA and sgRNAs targeting Tet1, Tet2, or Tet3 were injected into fertilized eggs. The blastocysts derived from injected embryos were transplanted into foster mothers and newborn pups were obtained and genotyped. The number of total alleles mutated in each mouse is listed from 0 to 2. The number of mice containing each specific number of mutated alleles is shown in relation to the total number of mice screened in each experiment. See also Table S2. A Some of the pups were cannibalized.

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http://ars.els-cdn.com/content/image/1-s2.0-S0092867413004674-gr2.jpg

Surprisingly, specific Δ9 Tet1 and specific Δ8 and Δ15 Tet2 mutant alleles were repeatedly recovered in independently derived mice. Preferential generation of these alleles is likely caused by a short sequence repeat flanking the DSB (see Figure S2B) consistent with previous reports demonstrating that perfect microhomology sequences flanking the cleavage sites can generate microhomology-mediated precise deletions by end repair mechanism (MMEJ) ( McVey and Lee, 2008; Symington and Gautier, 2011) (Figure S2B). A similar observation was also made when TALEN mRNA was injected into one-cell rat embryos ( Tesson et al., 2011).

We also derived blastocysts from zygotes injected with Cas9 mRNA and Tet3 sgRNA. Genotyping of the blastocysts demonstrated that of eight embryos three were homozygous and three were heterozygous Tet3 mutants (two failed to amplify) (Figure S2C). Some blastocysts were implanted into foster mothers and, upon C section, we readily identified multiple mice of smaller size ( Figure S2D), many of which died soon after delivery. Genotyping shown in Figure S2E indicated that all pups with mutations in both Tet3 alleles died neonatally. Only 2 out of 15 mice survived that were either Tet3heterozygous mutants or WT ( Figure S2F). These results are consistent with the lethal neonatal phenotype of Tet3 knockout mice generated using traditional methods ( Gu et al., 2011), although we have not yet established which of the Tet3 mutations produced loss of function rather than hypomorphic alleles.

One-Step Generation of Double-Gene Mutant Mice by Zygote Injection

To test whether Tet1/Tet2 double-mutant mice could be produced from single embryos, we coinjected Tet1 and Tet2 sgRNAs with 20 or 100 ng/μl Cas9 mRNA into zygotes. A total of 28 pups were born from 144 embryos transferred into foster mothers (21% live-birth rate) that had been injected at the zygote stage with high concentrations of RNA (Cas9 mRNA at 100 ng/μl, sgRNAs at 50 ng/μl), consistent with low or no toxicity of the Cas9 mRNA and sgRNAs ( Table 3). RFLP, Southern blot analysis, and sequencing identified 22 mice carrying targeted mutations at all four alleles of the Tet1 and Tet2genes ( Figures 2D and 2E) with the remaining mice carrying mutations in a subset of alleles ( Table 3). Injection of zygotes with low concentration of RNA (Cas9 mRNA at 20 ng/μl, sgRNAs at 20 ng/μl) yielded 19 pups from 75 transferred embryos (25% live-birth rate), which is a higher survival rate than from embryos injected with 100 ng/μl of Cas9 RNA. Nevertheless, more than 50% of the pups were biallelic Tet1/Tet2 double mutants ( Table 3). These results demonstrate that postnatal mice carrying biallelic mutations in two different genes can be generated within one month with high efficiency (Figure 2F).

Table 3.

CRISPR/Cas-Mediated Double-Gene Targeting in BDF2 Mice

Gene Cas9/sgRNA (ng/μl) Blastocyst/Injected Zygotes Transferred Embryos (Recipients) Newborns (Dead) Mutant Alleles per Mouse/Total Mice Testeda
4 3 2 1 0
Tet1 +Tet2 100 / 50 194/229 144(7) 31(8) 22/28 4/28 1/28 1/28 0/28
20 / 20 92/109 75(5) 19(3) 11/19 1/19 2/19 3/19 2/19

Cas9 mRNA and sgRNAs targeting Tet1and Tet2 were coinjected into fertilized eggs. The blastocysts derived from the injected embryos were transplanted into foster mothers and newborn pups were obtained and genotyped. The number of total alleles mutated in each mouse is listed from 0 to 4 for Tet1 and Tet2. The number of mice containing each specific number of mutated alleles is shown in relation to the number of total mice screened in each experiment. A Some of the pups were cannibalized.

Table options

Although the high live-birth rate and normal development of mutant mice suggest low toxicity of CRISPR/Cas9 system, we sought to determine the off-target effects in vivo. Previous work in vitro, in bacteria, and in cultured human cells suggested that the protospacer-adjacent motif (PAM) sequence NGG and the 8 to 12 base “seed sequence” at the 3′ end of the sgRNA are most important for determining the DNA cleavage specificity (Cong et al., 2013; Jiang et al., 2013; Jinek et al., 2012). Based on this rule, only three and four potential off targets exist in mouse genome for Tet1 and Tet2 sgRNA, respectively ( Table S2 and Experimental Procedures), with each of them perfectly matching the 12 bp seed sequence at the 3′ end and the NGG PAM sequence of the sgRNA (there is no potential off-target site for Tet3 sgRNA using this prediction rule). From seven double-mutant mice produced from injection with high RNA concentration we PCR amplified 400 to 500 bp fragments from all seven potential off-target loci and found no cleavage in the Surveyor assay ( Figure S3), suggesting a high specificity of CRISPR/Cas system.

Figure S3.

Off-Target Analysis of Double-Mutant Mice, Related to Figure 2

(A) Three potential off targets of Tet1 sgRNA and four potential off targets of Tet2 sgRNA are shown. The 12 bp perfect matching seed sequence is labeled in blue, and NGG PAM sequence is labeled in red.

(B) Surveyor assay of all seven potential off-target loci in seven double-mutant mice derived with high concentration of Cas9 mRNA (100 ng/μl) injection. WT control is included as the eighth sample. The weak cleavage activity at Ubr1 locus is not due to off-target effect because sequences of these PCR products show no mutations.

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Multiplexed Precise HDR-Mediated Genome Editing In Vivo

The NHEJ-mediated gene mutations described above produced mutant alleles with different and unpredictable insertions and deletions of variable size. We explored the possibility of precise homology directed repair (HDR)-mediated genome editing by coinjecting Cas9 mRNA, sgRNAs, and single-stranded DNA oligos into one-cell embryos. For this we designed an oligo targeting Tet1 so as to change two base pairs of a SacI restriction site and creating instead an EcoRI site and a second oligo targetingTet2 with two base pair changes that would convert an EcoRV site into an EcoRI site (Figure 3A). Blastocysts were derived from zygotes injected with Cas9 mRNA and sgRNAs and oligos targeting Tet1 or Tet2, respectively. DNA was isolated, amplified, and digested with EcoRI to detect oligo-mediated HDR events. Six out of nine Tet1-targeted embryos and 9 out of 15 Tet2-targeted embryos incorporated an EcoRI site at the respective target locus, with several embryos having both alleles modified (Figure S4A). When Cas9 mRNA, sgRNAs, and single-stranded DNA oligos targeting both Tet1 and Tet2 were coinjected into zygotes, out of 14 embryos, four were identified that were targeted with the oligo at the Tet1 locus, seven that were targeted with the oligo at the Tet2 locus and one embryo (2) that had one allele of each gene correctly modified (Figure S4B). All four alleles of embryo 2 were sequenced, confirming that one allele of each gene contained the 2 bp changes directed by the oligo, whereas the other alleles were disrupted by NHEJ-mediated deletion and insertion ( Figure S4C).

Figure 3.

Multiplexed HDR-Mediated Genome Editing In Vivo

(A) Schematic of the oligo-targeting sites at Tet1 and Tet2 loci. The sgRNA-targeting sequence is underlined, and the PAM sequence is labeled in green. Oligo targeting each gene is shown under the target site, with 2 bp changes labeled in red. Restriction enzyme sites used for RFLP analysis are bold and capitalized.

(B) RFLP analysis of double oligo injection mice with HDR-mediated targeting at the Tet1 and Tet2 loci.

(C) The sequences of both alleles of Tet1 and Tet2 in mouse 5 and 7 show simultaneously HDR-mediated targeting at one allele or two alleles of each gene, and NHEJ-mediated disruption at the other alleles. See also Figure S4.

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Figure S4.

Multiplexed Precise HDR-Mediated Genome Editing In Vivo, Related to Figure 3

(A) RFLP analysis of single oligo injection embryos with HDR-mediated targeting at Tet1 and Tet2 locus.

(B) RFLP analysis of double oligo injection embryos with multiplexed HDR-mediated targeting at both Tet1and Tet2 loci.

(C) Sequences of both alleles of Tet1 and Tet2 in embryo 2 show simultaneously HDR-mediated targeting at one allele of both genes, and NHEJ-mediated gene disruption at the other allele of each gene.

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Blastocysts with double oligo injections were implanted into foster mothers and a total of 10 pups were born from 48 embryos transferred (21% live-birth rate). Upon RFLP analysis using EcoRI, we identified seven mice containing EcoRI sites at the Tet1 locus and eight mice containing EcoRI sites at the Tet2 locus, with six mice containing EcoRI sites at both Tet1 and Tet2 loci ( Figure 3B). We also applied RFLP analysis using SacI and EcoRV to Tet1 and Tet2 loci, respectively, showing that all alleles not targeted by oligos contained disruptions, which is in consistent with the high biallelic mutation rate by Cas9 mRNA and sgRNAs injection. These results were confirmed by sequencing demonstrating mutations in all four alleles of mouse 5 and 7 ( Figure 3C). Our results demonstrate that mice with HDR-mediated precise mutations in multiple genes can be generated in one step by CRISPR/Cas-mediated genome editing.

Discussion

The genetic manipulation of mice is a crucial approach for the study of development and disease. However, the generation of mice with specific mutations is labor intensive and involves gene targeting by homologous recombination in ES cells, the production of chimeric mice, and, after germline transmission of the targeted ES cells, the interbreeding of heterozygous mice to produce the homozygous experimental animals, a process that may take 6 to 12 months or longer (Capecchi, 2005). To produce mice carrying mutations in several genes requires time-consuming intercrossing of single-mutant mice. Similarly, the generation of ES cells carrying homozygous mutations in several genes is usually achieved by sequential targeting, a process that is labor intensive, necessitating multiple consecutive cloning steps to target the genes and to delete the selectable markers.

As summarized in Figure 4, we have established three different approaches for the generation of mice carrying multiple genetic alterations. We demonstrate that CRISPR/Cas-mediated genome editing in ES cells can generate the simultaneous mutations of several genes with high efficiency, a single-step approach allowing the production of cells with mutations in five different genes (Figure 4A). We chose the threeTet genes as targets because the respective mutant phenotypes have been well defined previously ( Dawlaty et al., 2011, 2013; Gu et al., 2011). Cells mutant for Tet1, 2 and 3were depleted of 5hmC as would be expected for loss of function mutations of the genes (Dawlaty et al., 2013). However, we have not as yet established, which of the Cas9-mediated gene mutations produced loss of function rather than hypomorphic alleles.

Figure 4.

Mutiplexed Genome Editing in ES Cells and Mouse

(A) Multiple gene targeting in ES cells.

(B) One-step generation of mice with multiple mutations. Upper: multiple targeted mutations with random indels introduced through NHEJ. Lower: multiple predefined mutations introduced through HDR-mediated repair.

Figure options

We also show that mouse embryos can be directly modified by injection of Cas9 mRNA and sgRNA into the fertilized egg resulting in the efficient production of mice carrying biallelic mutations in a given gene. More significantly, coinjection of Cas9 with Tet1 andTet2 sgRNAs into zygotes produced mice that carried mutations in both genes (Figure 4B, upper). We found that up to 95% of newborn mice were biallelic mutant in the targeted gene when single sgRNA was injected and when coinjected with two different sgRNAs, up to 80% carried biallelic mutations in both targeted genes. Thus, mice carrying multiple mutations can be generated within 4 weeks, which is a much shorter time frame than can be achieved by conventional consecutive targeting of genes in ES cells and avoids time-consuming intercrossing of single-mutant mice.

The introduction of DSBs by CRISPR/Cas generates mutant alleles with varying deletions or insertions in contrast to designed precise mutations created by homologous recombination. The introduction of point mutations into human ES cells, cancer cell lines, and mouse by ZNF or TALEN along with DNA oligo has been demonstrated previously (Chen et al., 2011; Soldner et al., 2011; Wefers et al., 2013). We demonstrate that CRISPR/Cas-mediated targeting is useful to generate mutant alleles with predetermined alterations, and coinjection of single-stranded oligos can introduce designed point mutations into two target genes in one step, allowing for multiplexed gene editing in a strictly controlled manner (Figure 4B, lower). It will be of great interest to assess whether this targeting system allows for the production of conditional alleles, or precise insertion of larger DNA fragments such as GFP markers so as to generate conditional knockout and reporter mice for specific genes.

There are several potential limitations of the CRISPR/Cas technology. First, the requirement for a NGG PAM sequence of S. pyogenes Cas9 limits the target space in the mouse genome. It has been shown that the Streptococcus thermophilus LMD-9 Cas9 using different PAM sequence can also induce targeted DNA cleavage in mammalian cells ( Cong et al., 2013). Therefore, exploiting different Cas9 proteins may enable to target most of the mouse genome. Second, although the sgRNAs used here showed high targeting efficiency, much work is needed to elucidate the rules for designing sgRNAs with consistent high targeting efficiency, which is essential for multiplexed genome engineering. Third, although our off-target analysis for the seven most likely off targets of Tet1 and Tet2 sgRNAs failed to detect mutations in these loci, it is possible that other mutations were induced following as yet unidentified rules. A more thorough sequencing analysis for a large number of sgRNAs will provide more information about the potential off-target cleavage of the CRISPR/Cas system and lead to a better prediction of potential off-target sites. Last, oligo-mediated repair allows for precise genome editing, but the other allele is often mutated through NHEJ ( Figures 3B, 3C, andS4C). We have shown that using lower Cas9 mRNA concentration generates more mice with heterozygous mutations. Therefore, it may be possible to optimize the system for more efficient generation of mice with only one oligo -modified allele. In addition, employment of Cas9 nickase will likely avoid this complication because it mainly induces DNA single-strand break, which is typically repaired through HDR ( Cong et al., 2013;Mali et al., 2013).

It is likely that a much larger number of genomic loci than targeted in the present work can be modified simultaneously when pooled sgRNAs are introduced. The methods presented here open up the possibility of systematic genome engineering in mice, facilitating the investigation of entire signaling pathways, of synthetic lethal phenotypes or of genes that have redundant functions. A particularly interesting application is the possibility to produce mice carrying multiple alterations in candidate loci that have been identified in GWAS studies to play a role in the genesis of multigenic diseases. In summary, CRISPR/Cas-mediated genome editing makes possible the generation of ES cells and mice carrying multiple genetic alterations and will facilitate the genetic dissection of development and complex diseases.

One-Step Generation of Mice Carrying Reporter and Conditional Alleles by CRISPR/Cas-Mediated Genome Engineering

Hui Yang1, 4, Haoyi Wang1, 4, Chikdu S. Shivalila1, 2, 4, Albert W. Cheng1, 3, Linyu Shi1, Rudolf Jaenisch1, 3

Cell Sep 2013; 154(6):1370-1379   http://dx.doi.org:/10.1016/j.cell.2013.08.022

Highlights

  • One-step generation of mice with reporters in endogenous genes
  • One-step generation of conditional mutant mice
  • Off-target analysis suggests high specificity of the CRISPR/Cas9 system

The type II bacterial CRISPR/Cas system is a novel genome-engineering technology with the ease of multiplexed gene targeting. Here, we created reporter and conditional mutant mice by coinjection of zygotes with Cas9 mRNA and different guide RNAs (sgRNAs) as well as DNA vectors of different sizes. Using this one-step procedure we generated mice carrying a tag or a fluorescent reporter construct in the Nanog, the Sox2, and the Oct4 gene as well as Mecp2 conditional mutant mice. In addition, using sgRNAs targeting two separate sites in the Mecp2 gene, we produced mice harboring the predicted deletions of about 700 bps. Finally, we analyzed potential off-targets of five sgRNAs in gene-modified mice and ESC lines and identified off-target mutations in only rare instances.

Mice with specific gene modification are valuable tools for studying development and disease. Traditional gene targeting in embryonic stem (ES) cells, although suitable for generating sophisticated genetic modifications in endogenous genes, is complex and time-consuming (Capecchi, 2005). The production of genetically modified mice and rats has been greatly accelerated by novel approaches using direct injection of DNA or mRNA of site-specific nucleases into the one-cell-stage embryo, generating DNA double-strand breaks (DSB) at specified sequences leading to targeted mutations (Carbery et al., 2010, Geurts et al., 2009, Shen et al., 2013, Sung et al., 2013, Tesson et al., 2011 and Wang et al., 2013). Coinjection of a single-stranded or double-stranded DNA template containing homology to the sequences flanking the DSB can produce mutant alleles with precise point mutations or DNA inserts (Brown et al., 2013, Cui et al., 2011, Meyer et al., 2010, Wang et al., 2013 and Wefers et al., 2013). Recently, pronuclear injection of two pairs of ZFNs and two double-stranded donor vectors into rat fertilized eggs produced rat containing loxP-flanked (floxed) alleles (Brown et al., 2013). However, the complex and time-consuming design and generation of ZFNs and double-stranded donor vectors limit the application of this method.

CRISPR (clustered regularly interspaced short palindromic repeat) and Cas (CRISPR-associated) proteins function as the RNA-based adaptive immune system in bacteria and archaea (Horvath and Barrangou, 2010 and Wiedenheft et al., 2012). The type II bacterial CRISPR/Cas system has been demonstrated as an efficient gene-targeting technology that facilitates multiplexed gene targeting (Cong et al., 2013 and Wang et al., 2013). Because the binding of Cas9 is guided by the simple base-pair complementarities between the engineered single-guide RNA (sgRNA) and a target genomic DNA sequence, it is possible to direct Cas9 to any genomic locus by providing the engineered sgRNA (Cho et al., 2013, Cong et al., 2013, Gilbert et al., 2013, Hwang et al., 2013, Jinek et al., 2012, Jinek et al., 2013, Mali et al., 2013b, Qi et al., 2013 and Wang et al., 2013).

Previously, we used the type II bacterial CRISPR/Cas system as an efficient tool to generate mice carrying mutations in multiple genes in one step (Wang et al., 2013). However, this study left a number of issues unresolved. For example, neither the efficiency of using the CRISPR/Cas gene-editing approach for the insertion of DNA constructs into endogenous genes nor its utility to create conditional mutant mice was clarified. Here, we report the one-step generation of mice carrying reporter constructs in three different genes as well as the derivation of conditional mutant mice. In addition, we performed an extensive off-target cleavage analysis and show that off-target mutations are rare in targeted mice and ES cells derived from CRISPR/Cas zygote injection.

Results

Targeted Insertion of Short DNA Fragments

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Mice with Reporters in the Endogenous Nanog, Sox2, and Oct4 Genes

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Finally, we designed sgRNA targeting the Oct4 3′ UTR, which was coinjected with a published donor vector designed to integrate the 3 kb transgene cassette (IRES-eGFP-loxP-Neo-loxP; Figure 2D) at the 3′ end of the Oct4 gene ( Lengner et al., 2007). Blastocysts were derived from injected zygotes, inspected for GFP expression, and explanted to derive ES cells. About 20% (47/254) of the blastocysts displayed uniform GFP expression in the ICM region. Three of nine derived ES cell lines expressed GFP (Figure 2E), including one showed mosaic expression ( Table S2). Three out of ten live-born mice contained the targeted allele ( Table 1). Correct targeting in mice and ES cell lines was confirmed by Southern blot analysis ( Figure 2F).

Conventionally, transgenic mice are generated by pronuclear instead of cytoplasmic injection of DNA. To optimize the generation of CRISPR/Cas9-targeted embryos, we compared different concentrations of RNA and the Nanog-mCherry or the Oct4-GFP DNA vectors as well as three different delivery modes: (1) simultaneous injection of all constructs into the cytoplasm, (2) simultaneous injection of the RNA and the DNA into the pronucleus, and (3) injection of Cas9/sgRNA into the cytoplasm followed 2 hr later by pronuclear injection of the DNA vector. Table S1 shows that simultaneous injection of all constructs into the cytoplasm at a concentration of 100 ng/μl Cas9 RNA, 50 ng/μl of sgRNA and 200 ng/μl of vector DNA was optimal, resulting in 9% (86/936) to 19% (47/254) of targeted blastocysts. Similarly, the simultaneous injection of 5 ng/μl Cas9 RNA, 2.5 ng/μl of sgRNA, and 10 ng/μl of DNA vector into the pronucleus yielded between 9% (7/75) and 18% (13/72) targeted blastocysts. In contrast, the two-step procedure with Cas9 and sgRNA simultaneous injected into the cytoplasm followed 2 hr later by pronuclear injection of different concentrations of DNA vector yielded no or at most 3% (1/34) positive blastocysts. Thus, our results suggest that simultaneous injection of RNA and DNA into the cytoplasm or nucleus is the most efficient procedure to achieve targeted insertion.

Conditional Mecp2 Mutant Mice

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A total of 98 E13.5 embryos and mice were generated from zygotes injected with Cas9 mRNA, sgRNAs, and DNA oligos targeting the L2 and R1 sites. Genomic DNA was digested with both NheI and EcoRI, and analyzed by Southern blot using exon 3 and exon 4 probes (Figures 3A and 3B). The L2 and R1 oligos contained, in addition to the loxP site, different restriction sites (NheI or EcoRI). Thus, single loxP site integration at L2 or R1 will produce either a 3.9 kb or a 2 kb band, respectively, when hybridized with the exon3 probe (Figures 3A and B). We found that about 50% (45/98) of the embryos and mice carried a loxP site at the L2 site and about 25% (25/98) at the R1 site. Importantly, integration of both loxP sites on the same DNA molecule, generating a floxed allele, produces a 700 bp band as detected by exon 3 probe hybridization (Figures 3A and 3B). RFLP analysis, sequencing (Figures S4A and S4B) and Southern blot analysis (Figure 3B) showed that 16 out of the 98 mice tested contained two loxP sites flanking exon 3 on the same allele. Table 2 summarizes the frequency of all alleles and shows that the overall insertion frequency of an L2 or R1 insertion was slightly higher in females (21/38) than in males (28/60) consistent with the higher copy number of the X-linkedMecp2 gene in females. To confirm that the floxed allele was functional, we used genomic DNA for in vitro Cre-mediated recombination. Upon Cre treatment, both the deletion and circular products were detected by PCR in targeted mice, but not in DNA from wild-type mice ( Figure 3C). The PCR products were sequenced and confirmed the precise Cre-loxP-mediated recombination ( Figure S4C).

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Mosaicism

Off-Target Analysis

In this study, we demonstrate that CRISPR/Cas technology can be used for efficient one-step insertions of a short epitope or longer fluorescent tags into precise genomic locations, which will facilitate the generation of mice carrying reporters in endogenous genes. Mice and embryos carrying reporter constructs in the Sox2, the Nanog and the Oct4 gene were derived from zygotes injected with Cas9 mRNA, sgRNAs, and DNA oligos or vectors encoding a tag or a fluorescent marker. Moreover, microinjection of two Mecp2-specific sgRNAs, Cas9 mRNA, and two different oligos encoding loxP sites into fertilized eggs allowed for the one-step generation of conditional mutant mice. In addition, we show that the introduction of two spaced sgRNAs targeting the Mecp2 gene can produce mice carrying defined deletions of about 700 bp. Though all RNA and DNA constructs were injected into the cytoplasm or nucleus of zygotes, the gene modification events could happen at the one-cell stage or later. Indeed, Southern analyses revealed mosaicism in 17% (1/6) to 40% (20/49) of the targeted mice and ES cell lines indicating that the insertion of the transgenes had occurred after the zygote stage ( Table S2).

More…

In summary, CRISPR/Cas-mediated genome editing represents an efficient and simple method of generating sophisticated genetic modifications in mice such as conditional alleles and endogenous reporters in one step. The principles described in this study could be directly adapted to other mammalian species, opening the possibility of sophisticated genome engineering in many species where ES cells are not available.

Multiplexed activation of endogenous genes by CRISPR-on, an RNA-guided transcriptional activator system

Albert W Cheng1,2,*, Haoyi Wang1,*, Hui Yang1, Linyu Shi1, Yarden Katz1,3, Thorold W Theunissen1, Sudharshan Rangarajan1, Chikdu S Shivalila1,4, Daniel B Dadon1,4 and Rudolf Jaenisch1,4
Cell Research (2013) 23:1163–1171. http://dx.doi.org:/10.1038/cr.2013.122

Technologies allowing for specific regulation of endogenous genes are valuable for the study of gene functions and have great potential in therapeutics. We created the CRISPR-on system, a two-component transcriptional activator consisting of a nuclease-dead Cas9 (dCas9) protein fused with a transcriptional activation domain and single guide RNAs (sgRNAs) with complementary sequence to gene promoters. We demonstrate that CRISPR-on can efficiently activate exogenous reporter genes in both human and mouse cells in a tunable manner. In addition, we show that robust reporter gene activation in vivo can be achieved by injecting the system components into mouse zygotes. Furthermore, we show that CRISPR-on can activate the endogenous IL1RN, SOX2, and OCT4genes. The most efficient gene activation was achieved by clusters of 3-4 sgRNAs binding to the proximal promoters, suggesting their synergistic action in gene induction. Significantly, when sgRNAs targeting multiple genes were simultaneously introduced into cells, robust multiplexed endogenous gene activation was achieved. Genome-wide expression profiling demonstrated high specificity of the system.

Gene expression is strictly controlled in many biol-ogical processes, such as development and diseases. Transcription factors regulate gene expression by binding to specific DNA sequences at the enhancer and promoter regions of target genes, and modulate transcription through their effector domains1. Based on the same principle, artificial transcription factors (ATFs) have been generated by fusing various functional domains to a DNA binding domain engineered to bind to the genes of interest, thereby modulating their expression2,3. The capability of regulating endogenous gene expression using ATFs may facilitate the study of the transcriptional network underlying complex biological processes and provide new therapeutic options for diseases. Significant efforts and progress have been made to engineer DNA binding domains with defined specificities. The decipherment of the “code” of DNA binding specificity of zinc finger proteins and transcription activator-like effectors (TALE) has led to the rational design of DNA binding domains to recognize specific nucleotides with certain probability4,5,6,7,8,9,10. However, binding specificity of these ATFs is usually degenerate, can be difficult to predict and the complex and time-consuming design and generation limits their applications. To study the transcriptional network in a systematic manner, regulating multiple endogenous genes is required, prompting the development of efficient technology for simultaneous regulation of multiple endogenous genes.

CRISPR (clustered regularly interspaced short palin-dromic repeat) and Cas (CRISPR-associated) proteins are utilized by bacteria and archea to defend against viral pathogens11,12. Because the binding of Cas protein is guided by the simple base-pair complementarities between the engineered single guide RNA (sgRNA) and a target genomic DNA sequence, Cas9 could be directed to specific genomic locus or multiple loci simultaneously, by providing the engineered sgRNAs13,14,15,16,17,18,19,20. A recent study described the CRISPRi (CRISPR interference) system, in which the nuclease-deficient dCas9 (D10A; H840A) proteins blocked the transcription apparatus when directed to promoters or gene bodies in bacteria21. A subsequent study demonstrated a more efficient gene repression in eukaryotes by dCas9 fused with a transcription repression domain or exogenous transgene activation when fused with an activation domain22. Two most recent studies showed single endogenous gene activation using dCas9-based activators9,10. To what extent multiple endogenous genes could be regulated simultaneously has not been explored. In this study we report the generation of an RNA-programmable CRISPR-on system, which enables the simultaneous activation of multiple endogenous genes with a defined stoichiometry.

…

We show here that the CRISPR-on system can be used for the simultaneous induction of at least three different endogenous genes. More significantly, we demonstrated that the stoichiometry of gene induction of multiple genes can be tuned by adjusting the relative amount of their cognate sgRNAs. Simultaneous activation of multiple endogenous genes with defined stoichiometry opens up novel opportunities for systems biology as it allows for the predictable manipulation of transcriptional networks.

Finally, with the ease of design and synthesis, a library of sgRNAs could be generated. When introduced into a cell line constitutively expressing dCas9 activator, gene activation screens mediated by RNA (RNAa) could be achieved. As the specificity components (sgRNA) can be separately designed and constructed from the effector component (Cas fusion proteins), the same library of sgRNAs could be used with different dCas9 fusions (e.g., VP160 domain for transactivation, KRAB domain for transcriptional repression, chromatin modifier domains for specific histone modification) to exert different functions at particular genomic loci.

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  9. Maeder ML, Linder SJ, Reyon D, et al. Robust, synergistic regulation of human gene expression using TALE activators. Nat Methods 2013; 10:243–245. | Article | PubMed | CAS |
  10. Perez-Pinera P, Ousterout DG, Brunger JM, et al. Synergistic and tunable human gene activation by combinations of synthetic transcription factors.Nat Methods 2013; 10:239–242. | Article | PubMed | CAS |
  11. Bhaya D, Davison M, Barrangou R. CRISPR-Cas systems in bacteria and archaea: versatile small RNAs for adaptive defense and regulation. Annu Rev Genet 2011; 45:273–297. | Article | PubMed | CAS |
  12. Wiedenheft B, Sternberg SH, Doudna JA. RNA-guided genetic silencing systems in bacteria and archaea. Nature 2012; 482:331–338. | Article | PubMed | CAS |

….

Our long-range goals are to understand epigenetic regulation of gene expression in mammalian development and disease. An important question is to understand the different epigenetic conformations that distinguish differentiated cell states and to define strategies to transdifferentiate one differentiated cell type into another. Embryonic stem cells are of major significance because they have the potential to generate any cell type in the body and, therefore, are of great interest for regenerative medicine. A major focus of our work is to understand the molecular mechanisms that allow the reprogramming of somatic cells to an embryonic pluripotent state and to use the potential of patient specific pluripotent cells to study complex human diseases.

http://www.fiercebiotech.com/press-releases/fiercebiotech-names-crispr-therapeutics-one-its-fierce-15-biotech-companies?

Elizabeth Pennisi

Three years ago, no one knew or cared about much about a protein called Cpf1 produced by a bacterial gene. Now, it shows potential for making a fast-developing genome editing technique called CRISPR easier and more accurate. Bioinformaticians identified this protein and its potential connection to CRISPR by scanning the public database of genome sequences. Their colleagues now show that two of 16 versions of this protein tested can delete a gene in a human cell. Cpf1 has other advantages as well-being smaller than one of the popular Cas9 proteins used and depending on a smaller piece of RNA to find its target DNA. But its utility for editing genomes of human and other cells needs further testing.

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The Fred Conrad Koch Lifetime Achievement Award—the Society’s highest honor—recognizes the lifetime achievements and exceptional contributions of an individual to the field of endocrinology

Curator: Larry H. Bernstein, MD, FCAP

 

Series E. 2; 7.3

 

lifetime achievements and exceptional contributions of an individual to the field of endocrinology

  • 2015

Andrzej Bartke, MS, PhD

Southern Illinois University School of Medicine

  • 2014

George P. Chrousos, MD

Athens University Medical School, Aghia Sophia Children’s Hospital

  • 2013

Michael O. Thorner, MBBS, DSc

University of Virginia

  • 2012

Samuel Refetoff, MD

University of Chicago

  • 2011

Pierre Chambon, MD

Institut de Génétique et de Biologie Moléculaire et Cellulaire

  • 2010

Kathryn B. Horwitz, PhD

University of Colorado at Denver – Anschutz Medical Campus

  • 2009
  1. Larry Jameson, MD, PhD

Northwestern University Medical School

  • 2008
  1. Reed Larsen, MD, FACP, FRCP

Harvard Medical School, Brigham and Women’s Hospital

  • 2007

John D. Baxter, MD

University of California – San Francisco

  • 2006

Gerald M. Reaven, MD

Joslin Diabetes Center, Boston

  • 2005

William F. Crowley, Jr., MD

Massachusetts General Hospital

  • 2004

Patricia K. Donahoe, MD

Massachusetts General Hospital – Harvard Medical School

  • 2003

Maria I. New, MD

New York Presbyterian Hospital, Cornell Medical School

 

 

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The Neurogenetics of Language – Patricia Kuhl

Larry H. Bernstein, MD, FCAP, Curator

Leaders in Pharmaceutical Innovation

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WordCloud Image Produced by Adam Tubman

Series E. 2; 5.7

2015 George A. Miller Award

In neuroimaging studies using structural (diffusion weighted magnetic resonance imaging or DW-MRI) and functional (magnetoencephalography or MEG) imaging, my laboratory has produced data on the neural connectivity that underlies language processing, as well as electrophysiological measures of language functioning during various levels of language processing (e.g., phonemic, lexical, or sentential). Taken early in development, electrophysiological measures or “biomarkers” have been shown to predict future language performance in neurotypical children as well as children with autism spectrum disorders (ASD). Work in my laboratory is now combining these neuroimaging approaches with genetic sequencing, allowing us to understand the genetic contributions to language learning.

http://www.youtube.com/watch%3Fv%3DG2XBIkHW954

http://www.youtube.com/watch%3Fv%3DM-ymanHajN8

Patricia Kuhl shares astonishing findings about how babies learn one language over another — by listening to the humans around them

Kuhl Constructs: How Babies Form Foundations for Language

MAY 3, 2013

by Sarah Andrews Roehrich, M.S., CCC-SLP

Years ago, I was captivated by an adorable baby on the front cover of a book, The Scientist in the Crib: What Early Learning Tells Us About the Mind, written by a trio of research scientists including Alison Gopknik, PhD, Andrew Meltzoff, PhD, and Patricia Kuhl, PhD.

At the time, I was simply interested in how babies learn about their worlds, how they conduct experiments, and how this learning could impact early brain development.  I did not realize the extent to which interactions with family, caretakers, society, and culture could shape the direction of a young child’s future.

Now, as a speech-language pathologist in Early Intervention in Massachusetts, more cognizant of the myriad of factors that shape a child’s cognitive, social-emotional, language, and literacy development, I have been absolutely delighted to discover more of the work of Dr. Kuhl, a distinguished speech-and-language pathologist at The University of Washington.  So, last spring, when I read that Dr. Kuhl was going to present “Babies’ Language Skills” as one part of a 2-part seminar series sponsored by the Mind, Brain, and Behavior Annual Distinguished Lecture Series at Harvard University1, I was thrilled to have the opportunity to attend. Below are some highlights from that experience and the questions it has since sparked for me:

Lip ‘Reading’ Babies
According to a study by Dr. Patricia Kuhl and Dr. Andrew Meltzoff, “Bimodal Perception of Speech in Infancy” (Science, 1982), cited in the 2005 Seattle Times article, “Infant Science: How do Babies Learn to Talk?” by Paula Bock, Drs. Patricia Kuhl and Andrew Meltzoff showed that babies as young as 18 weeks of age could listen to “Ah ah ah” or “Ee ee ee” vowel sounds and gaze at the correct, corresponding lip shape on a video monitor.
This image from Kuhl’s 2011 TED talk shows how a baby is trained to turn his head in response to a change in such vowel sounds, and is immediately rewarded by watching a black box light up while a panda bear inside pounds a drum.  Images provided courtesy of Dr. Patricia Kuhl’s Lab at the University of Washington.

Who is Dr. Patricia Kuhl and how has her work re-shaped our knowledge about how babies learn language?

Dr. Kuhl, who is co-director of the Institute for Learning and Brain Sciences at The University of Washington, has been internationally recognized for her research on early language and brain development, and for her studies on how young children learn.  In her most recent research experiments, she’s been using magnetoencephalography (MEG)–a relatively new neuroscience technology that measures magnetic fields generated by the activity of brain cells–to investigate how, where, and with what frequency babies from around the world process speech sounds in the brain when they are listening to adults speak in their native and non-native languages.

A 6-month-old baby sits in a magnetoencephalography machine, which maps brain activity, while listening to various languages in earphones and playing with a toy. Image originally printed in “Brain Mechanisms in Early Language Acquisition” (Neuron review, Cell Press, 2010) and provided courtesy of Dr. Patricia Kuhl’s Lab at the University of Washington.

Not only does Kuhl’s research point us in the direction of how babies learn to process phonemes, the sound units upon which many languages are built, but it is part of a larger body of studies looking at infants across languages and cultures that has revolutionized our understanding of language development over the last half of the 20th century—leading to, as Kuhl puts it, “a new view of language acquisition, that accounts for both the initial state of linguistic knowledge in infants, and infants’ extraordinary ability to learn simply by listening to their native language.”2

What is neuroplasticity and how does it underlie child development?

Babies are born with 100 billion neurons, about the same as the number of stars in the Milky Way.3 In The Whole Brain Child,Daniel Siegel, MD and Tina Payne Bryson, PhD explain that when we undergo an experience, these brain cells respond through changes in patterns of electrical activity—in other words, they “fire” electrical signals called “action potentials.”4

In a child’s first years of life, the brain exhibits extraordinary neuroplasticity, refining its circuits in response to environmental experiences. Synapses—the sites of communication between neurons—are built, strengthened, weakened and pruned away as needed. Two short videos from the Center on the Developing Child at Harvard, “Experiences Build Brain Architecture” and “Serve and Return Interaction Shapes Brain Circuitry”, nicely depict how some of this early brain development happens.5

Since brain circuits organize and reorganize themselves in response to an infant’s interactions with his or her environment, exposing babies to a variety of positive experiences (such as talking, cuddling, reading, singing, and playing in different environments) not only helps tune babies in to the language of their culture, but it also builds a foundation for developing the attention, cognition, memory, social-emotional, language and literacy, and sensory and motor skills that will help them reach their potential later on.

When and how do babies become “language-bound” listeners?

In her 2011 TED talk, “The Linguistic Genius of Babies,” Dr. Kuhl discusses how babies under 8 months of age from different cultures can detect sounds in any language from around the world, but adults cannot do this. 6   So when exactly do babies go from being “citizens of the world”, as Kuhl puts it, to becoming “language-bound” listeners, specifically focused on the language of their culture?”

Between 8-10 months of age, when babies are trying to master the sounds used in their native language, they enter a critical period for sound development.1  Kuhl explains that in one set of experiments, she compared a group of babies in America learning to differentiate the sounds “/Ra/” and “/La/,” with a group of babies in Japan.  Between 6-8 months, the babies in both cultures recognized these sounds with the same frequency.  However, by 10-12 months, after multiple training sessions, the babies in Seattle, Washington, were much better at detecting the “/Ra/-/La/” shift than were the Japanese babies.

Kuhl explains these results by suggesting that babies “take statistics” on how frequently they hear sounds in their native and non-native languages.  Because “/Ra/” and “/La/” occur more frequently in the English language, the American babies recognized these sounds far more frequently in their native language than the Japanese babies.  Kuhl believes that the results in this study indicate a shift in brain development, during which babies from each culture are preparing for their own languages and becoming “language-bound” listeners.

In what ways are nurturing interactions with caregivers more valuable to babies’ early language development than interfacing with technology?

If parents, caretakers, and other children can help mold babies’ language development simply by talking to them, it is tempting to ask whether young babies can learn language by listening to the radio, watching television, or playing on their parents’ mobile devices. I mean, what could be more engaging than the brightly-colored screens of the latest and greatest smart phones, iPads, iPods, and computers? They’re perfect for entertaining babies.  In fact, some babies and toddlers can operate their parents’ devices before even having learned how to talk.

However, based on her research, Kuhl states that young babies cannot learn language from television and it is necessary for babies to have lots of face-to-face interaction to learn how to talk.1  In one interesting study, Kuhl’s team exposed 9 month old American babies to Mandarin in various forms–in person interactions with native Mandarin speakers vs. audiovisual or audio recordings of these speakers–and then looked at the impact of this exposure on the babies’ ability to make Mandarin phonetic contrasts (not found in English) at 10-12 months of age. Strikingly, twelve laboratory visits featuring in person interactions with the native Mandarin speakers were sufficient to teach the American babies how to distinguish the Mandarin sounds as well as Taiwanese babies of the same age. However, the same number of lab visits featuring the audiovisual or audio recordings made no impact. American babies exposed to Mandarin through these technologies performed the same as a control group of American babies exposed to native English speakers during their lab visits.

This diagram depicts the results of a Kuhl study on American infants exposed to Mandarin in various forms–in person interactions with native speakers versus television or audio recordings of these speakers. As the top blue triangle shows, the American infants exposed in person to native Mandarin speakers performed just as well on a Mandarin phoneme distinction task as age-matched Taiwanese counterparts. However, those American infants exposed to television or audio recordings of the Mandarin speakers performed the same as a control group of American babies exposed to native English speakers during their lab visits. Diagram displayed in Kuhl’s TED TAlk 6, provided courtesy of Dr. Patricia Kuhl’s Lab at the University of Washington.

Kuhl believes that this is primarily because a baby’s interactions with others engages the social brain, a critical element for helping children learn to communicate in their native and non-native languages. 6  In other words, learning language is not simply a technical skill that can be learned by listening to a recording or watching a show on a screen.  Instead, it is a special gift that is handed down from one generation to the next.

Language is learned through talking, singing, storytelling, reading, and many other nurturing experiences shared between caretaker and child.  Babies are naturally curious; they watch every movement and listen to every sound they hear around them.  When parents talk, babies look up and watch their mouth movements with intense wonder.  Parents respond in turn, speaking in “motherese,” a special variant of language designed to bathe babies in the sound patterns and speech sounds of their native language. Motherese helps babies hear the “edges” of sound, the very thing that is difficult for babies who exhibit symptoms of dyslexia and auditory processing issues later on.

Over time, by listening to and engaging with the speakers around them, babies build sound maps which set the stage for them to be able to say words and learn to read later on.  In fact, based on years of research, Kuhl has discovered that babies’ abilities to discriminate phonemes at 7 months-old is a predictor of future reading skills for that child at age 5.7

I believe that educating families about brain development, nurturing interactions, and the benefits and limits of technology is absolutely critical to helping families focus on what is most important in developing their children’s communication skills.  I also believe that Kuhl’s work is invaluable in this regard.  Not only has it focused my attention on how babies form foundations for language, but it has illuminated my understanding of how caretaker-child interactions help set the stage for babies to become language-bound learners.

Sources

(1) Kuhl, P. (April 3, 2012.) Talk on “Babies’ Language Skills.” Mind, Brain, and Behavior Annual Distinguished Lecture Series, Harvard University.

(2) Kuhl, P. (2000). “A New View of Language Acquisition.” This paper was presented at the National Academy of Sciences colloquium “Auditory Neuroscience: Development, Transduction, and Integration,” held May 19–21, 2000, at the Arnold and Mabel Beckman Center in Irvine, CA. Published by the National Academy of Sciences.

(3) Bock, P. (2005.)  “The Baby Brain.  Infant Science: How do Babies Learn to Talk?” Pacific Northwest: The Seattle Times Magazine.

(4) Siegel, D., Bryson, T. (2011.)  The Whole-Brain Child: 12 Revolutionary Strategies to Nurture Your Child’s Developing Mind. New York, NY:  Delacorte Press, a division of Random House, Inc.

(5) Center on the Developing Child at Harvard University. “Experiences Build Brain Architecture” and “Serve and Return Interaction Shapes Brain Circuitry” videos, two parts in the three-part series, “Three Core Concepts in Early Development.

http://developingchild.harvard.edu/resources/multimedia/videos

(6) Kuhl, P.  (February 18, 2011.) “The Linguistic Genius of Babies,” video talk on TED.com, a TEDxRainier event.

www.ted.com/talks/patricia_kuhl_the_linguistic_genius_of_babies.html

(7) Lerer, J. (2012.) “Professor Discusses Babies’ Language Skills.”  The Harvard Crimson.

Andrew Meltzoff & Patricia Kuhl: Joint attention to mind

Sarah DeWeerdt  11 Feb 2013

Power couple: In addition to a dizzying array of peer-reviewed publications, Andrew Meltzoff and Patricia Kuhl have written a popular book on brain development, given TED talks and lobbied political leaders.

Andrew Meltzoff shares many things with his wife — research dollars, authorship, a keen interest in the young brain — but he does not keep his wife’s schedule.

“It’s one of the agreements we have,” he says, laying out the rule with a twinkle in his eye that conveys both the delights and the complications of working with one’s spouse.

Meltzoff, professor of psychology at the University of Washington in Seattle, and his wife, speech and hearing sciences professor Patricia Kuhl, are co-directors of the university’s Institute for Learning and Brain Sciences, which focuses on the development of the brain and mind during the first five years of life.

Between them, they have shown that learning is a fundamentally social process, and that babies begin this social learning when they are just weeks or even days old.

You could say the couple is attached at the cerebral cortex, but not at the hip: They take equal roles in running the institute, but they each have their own daily rhythms and distinct, if overlapping, scientific interests.

Kuhl studies how infants “crack the language code,” as she puts it — how they figure out sounds and meanings and eventually learn to produce speech. Meltzoff’s work focuses on social building blocks such as imitation and joint attention, or a shared focus on an object or activity. Meltzoff says these basic behaviors help children develop theory of mind, a sophisticated awareness and understanding of others’ thoughts and feelings.

All of these abilities are impaired in children with autism. Most of the couple’s studies have focused on typically developing infants, because, they say, it’s essential to understand typical development in order to appreciate the irregularities in autism.

Both also study autism, which can in turn help explain typical development.

In addition to a dizzying array of peer-reviewed publications, the duo have written a popular book on developmental psychiatry, The Scientist in the Crib, and promote their ideas through TED talks and by lobbying political leaders.

Geraldine Dawson, chief science officer of the autism science and advocacy organization Autism Speaks and a longtime collaborator, calls Meltzoff and Kuhl “the dynamic duo.” “They’re sort of bigger-than-life type people, who fill the room when they walk into it,” she says.

Making a match:

Meltzoff and Kuhl’s story began with a scientific twist on a standard rom-com meet cute.

It was the early 1980s, and Kuhl, who had recently joined the faculty at the University of Washington, wanted to understand how infants hear and see vowels. But she was having trouble designing an effective experiment.

“I kept running into Andy’s office,” which was near hers, to talk it through, Kuhl recalls.

Meltzoff had done some research on how babies integrate what they see with what they touch, a process called cross-modal matching1. Soon he and Kuhl realized that they could adapt his experimental design to her question, and decided to collaborate.

They showed babies two video screens, each featuring a person mouthing a different vowel sound – “ahhh” or “eeee.” A speaker placed between the two screens played one of those two vowel sounds.

They found that babies as young as 18 to 20 weeks look longer at the face that matches the sound they hear, integrating faces with voices2.

But that wasn’t the only significant result from those experiments.

“Speaking only for myself, I will say I became very interested in the very attractive, smart blonde that I was collaborating with,” Meltzoff says. “Criticizing each other’s scientific writing at the same time the relationship was building was… interesting.”

And effective: Their paper appeared in Science in 1982, and the couple married three years later.

Listening to Meltzoff tell that story, it’s easy to understand why some colleagues say he is funny but they can’t quite explain why. His humor is subtle and wry. More obvious is his passion, not just for science, but for working out the theory underlying empirical results. Even his wife describes his personality as “cerebral.”

“He just has this laser vision for homing in on what is the heart of the issue,” says Rechele Brooks, research assistant professor of psychiatry and behavioral sciences at the University of Washington, who collaborates with Meltzoff on studies of gaze.

For example, in one of his earliest papers, Meltzoff wanted to investigate how babies learn to imitate. He found that infants just 12 to 21 days old can imitate both facial expressions and hand gestures, much earlier than previously thought3.

“It really turned the scientific community on its head,” Brooks says.

Early insights:

Face to face: Meltzoff and Kuhl are developing a method to simultaneously record the brain activity of two people as they interact.

Meltzoff continued to study infants, tracing back the components of theory of mind to their earliest developmental source. That sparked the interest of Dawson, who had gotten to know Meltzoff as a student at the University of Washington in the 1970s, and became the first director of the university’s autism center in 1996.

Meltzoff and Dawson together applied his techniques to study young, often nonverbal, children with autism. In one study, they found that children with autism have more trouble imitating others than do either typically developing children or those with Down syndrome4.

In another study, they found that children with autism are less interested in social sounds such as clapping or hearing their name called than are their typically developing peers5.  They also found that how children with autism imitate and play with toys when they are 3 or 4 years old predicts their communication skills two years later6.

Most previous studies of autism had focused on older children, Dawson says, and this work helped paint a picture of the disorder earlier in childhood.

Kuhl began her career with studies showing that monkeys7 and even chinchillas8 can distinguish the difference between speech sounds, or phonemes, such as “ba” and “pa,” just as human infants can.

“The bottom line was that animals were sharing this aspect of perception,” Kuhl says.

So why are people so much better than animals at learning language? Kuhl has been trying to answer that question ever since, first through behavioral studies and then by measuring brain activity using imaging techniques.

Kuhl is soft-spoken, but a listener wants to lean in to catch every word. Scientists who have worked with her describe her as poised and perfectly put together, a master of gentle yet effective diplomacy.

“She has her sort of magnetic power to pull people together,” says Yang Zhang, associate professor of speech-language-hearing sciences at the University of Minnesota in Rochester, who was a graduate student and postdoctoral researcher in Kuhl’s lab beginning in the late 1990s.

Listen and learn:

At one point, Kuhl turned her considerable powers of persuasion on a famously smooth negotiator, then-President Bill Clinton.

Kuhl had shown that newborns hear virtually all speech sounds, but by 6 months of age they lose the ability to distinguish sounds that aren’t part of their native language9.

At the White House Conference on Early Childhood Development and Learning in 1997, she described how infants learn by listening, long before they can speak.

Clinton, ever the policy wonk, asked her how much babies need to hear in order to learn. Kuhl said she didn’t know — but if Clinton gave her the funds, she would find out. “Even the president could see that research on the effects of language input on the young brain had impact on society,” she says.

Kuhl used the funds Clinton gave her to design a study in which 9-month-old babies in the U.S. received 12 short Mandarin Chinese ‘lessons.’ The babies quickly learned to distinguish speech sounds in the second language, her team found — but only if the speaker was live, not in a video10.

Those results contributed to Kuhl’s ‘social gating’ hypothesis, which holds that social interaction is necessary for picking up on the sounds and patterns of language. “We’re saying that social interaction is a kind of gate to an interest in learning, the kind that humans are completely masters of,” she says.

Her results also suggest that the language problems in children with autism may be the result of their social deficits.

“Children with autism will have a very difficult time acquiring language if language requires the social gate to be open,” she says.

Over the years, Kuhl and Meltzoff have had largely independent research programs, but her recent focus on the social roots of language dovetails with his long-time focus on social interaction.

These days, they are trying to develop ‘face-to-face neuroscience,’ which involves simultaneously recording brain activity from two people as they interact with each other.

This approach would allow researchers to observe, for example, what happens in an infant’s brain when she hears her mother’s voice, and what happens in the mother’s brain as she sees her infant respond to her. “It’s going to be very special to do,” Meltzoff says enthusiastically, even though the effort is more directly related to Kuhl’s work than to his own.

It’s clear that this fervor for each other’s work goes both ways.

“That’s one of the great things about being married to a scientist,” Meltzoff says. “When you come home and think, ‘God, I really nailed this methodologically,’ your wife, instead of yawning, leans forward and says, ‘You did? Tell me about the method, that’s so exciting.’”

News and Opinion articles on SFARI.org are editorially independent of the Simons Foundation.

References:

1: Meltzoff A.N. and R.W. Borton Nature 282, 403-404 (1979) PubMed

2: Kuhl P.K. and A.N. Meltzoff Science 218, 1138-1141 (1982) PubMed

3: Meltzoff A.N. and M.K. Moore Science 198, 75-78 (1977) PubMed

4: Dawson G. et al. Child Dev. 69, 1276-1285 (1998) PubMed

5: Dawson G. et al. J. Autism Dev. Disord. 28, 479-485 (1998) PubMed

6: Toth K. et al. J. Autism Dev. Disord. 36, 993-1005 (2006) PubMed

7: Kuhl P.K. and D.M. Padden Percept. Psychophys. 32, 542-550 (1982) PubMed

8: Kuhl P.K. and J.D. Miller Science 190, 69-72 (1975) PubMed

9: Kuhl P.K. et al. Science 255, 606-608 (1992) PubMed

10: Kuhl P.K. et al. Proc. Natl. Acad. Sci. U.S.A. 100, 9096-9101 (2003) PubMed

Using genetic data in cognitive neuroscience: from growing pains to genuine insights

Adam E. Green, Marcus R. Munafò, Colin G. DeYoung, John A. Fossella, Jin Fan & Jeremy R. Gray
Nature Reviews Neuroscience 2008 Sep; 9, 710-720
http://dx.doi.org:/10.1038/nrn2461

Research that combines genetic and cognitive neuroscience data aims to elucidate the mechanisms that underlie human behaviour and experience by way of ‘intermediate phenotypes’: variations in brain function. Using neuroimaging and other methods, this approach is poised to make the transition from health-focused investigations to inquiries into cognitive, affective and social functions, including ones that do not readily lend themselves to animal models. The growing pains of this emerging field are evident, yet there are also reasons for a measured optimism.

NSF – Cognitive Neuroscience Award

The cross-disciplinary integration and exploitation of new techniques in cognitive neuroscience has generated a rapid growth in significant scientific advances. Research topics have included sensory processes (including olfaction, thirst, multi-sensory integration), higher perceptual processes (for faces, music, etc.), higher cognitive functions (e.g., decision-making, reasoning, mathematics, mental imagery, awareness), language (e.g., syntax, multi-lingualism, discourse), sleep, affect, social processes, learning, memory, attention, motor, and executive functions. Cognitive neuroscientists further clarify their findings by examining developmental and transformational aspects of such phenomena across the span of life, from infancy to late adulthood, and through time.

New frontiers in cognitive neuroscience research have emerged from investigations that integrate data from a variety of techniques. One very useful technique has been neuroimaging, including positron emission tomography (PET), functional magnetic resonance imaging (fMRI), magnetoencephalography (MEG), optical imaging (near infrared spectroscopy or NIRS), anatomical MRI, and diffusion tensor imaging (DTI). A second class of techniques includes physiological recording such as subdural and deep brain electrode recording, electroencephalography (EEG), event-related electrical potentials (ERPs), and galvanic skin responses (GSRs). In addition, stimulation methods have been employed, including transcranial magnetic stimulation (TMS), subdural and deep brain electrode stimulation, and drug stimulation. A fourth approach involves cognitive and behavioral methods, such as lesion-deficit neuropsychology and experimental psychology. Other techniques have included genetic analysis, molecular modeling, and computational modeling. The foregoing variety of methods is used with individuals in healthy, neurological, psychiatric, and cognitively-impaired conditions. The data from such varied sources can be further clarified by comparison with invasive neurophysiological recordings in non-human primates and other mammals.

Findings from cognitive neuroscience can elucidate functional brain organization, such as the operations performed by a particular brain area and the system of distributed, discrete neural areas supporting a specific cognitive, perceptual, motor, or affective operation or representation. Moreover, these findings can reveal the effect on brain organization of individual differences (including genetic variation), plasticity, and recovery of function following damage to the nervous system.

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