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Posts Tagged ‘autism’


  1. Lungs can supply blood stem cells and also produce platelets: Lungs, known primarily for breathing, play a previously unrecognized role in blood production, with more than half of the platelets in a mouse’s circulation produced there. Furthermore, a previously unknown pool of blood stem cells has been identified that is capable of restoring blood production when bone marrow stem cells are depleted.

 

  1. A new drug for multiple sclerosis: A new multiple sclerosis (MS) drug, which grew out of the work of UCSF (University of California, San Francisco) neurologist was approved by the FDA. Ocrelizumab, the first drug to reflect current scientific understanding of MS, was approved to treat both relapsing-remitting MS and primary progressive MS.

 

  1. Marijuana legalized – research needed on therapeutic possibilities and negative effects: Recreational marijuana will be legal in California starting in January, and that has brought a renewed urgency to seek out more information on the drug’s health effects, both positive and negative. UCSF scientists recognize marijuana’s contradictory status: the drug has proven therapeutic uses, but it can also lead to tremendous public health problems.

 

  1. Source of autism discovered: In a finding that could help unlock the fundamental mysteries about how events early in brain development lead to autism, researchers traced how distinct sets of genetic defects in a single neuronal protein can lead to either epilepsy in infancy or to autism spectrum disorders in predictable ways.

 

  1. Protein found in diet responsible for inflammation in brain: Ketogenic diets, characterized by extreme low-carbohydrate, high-fat regimens are known to benefit people with epilepsy and other neurological illnesses by lowering inflammation in the brain. UCSF researchers discovered the previously undiscovered mechanism by which a low-carbohydrate diet reduces inflammation in the brain. Importantly, the team identified a pivotal protein that links the diet to inflammatory genes, which, if blocked, could mirror the anti-inflammatory effects of ketogenic diets.

 

  1. Learning and memory failure due to brain injury is now restorable by drug: In a finding that holds promise for treating people with traumatic brain injury, an experimental drug, ISRIB (integrated stress response inhibitor), completely reversed severe learning and memory impairments caused by traumatic brain injury in mice. The groundbreaking finding revealed that the drug fully restored the ability to learn and remember in the brain-injured mice even when the animals were initially treated as long as a month after injury.

 

  1. Regulatory T cells induce stem cells for promoting hair growth: In a finding that could impact baldness, researchers found that regulatory T cells, a type of immune cell generally associated with controlling inflammation, directly trigger stem cells in the skin to promote healthy hair growth. An experiment with mice revealed that without these immune cells as partners, stem cells cannot regenerate hair follicles, leading to baldness.

 

  1. More intake of good fat is also bad: Liberal consumption of good fat (monounsaturated fat) – found in olive oil and avocados – may lead to fatty liver disease, a risk factor for metabolic disorders like type 2 diabetes and hypertension. Eating the fat in combination with high starch content was found to cause the most severe fatty liver disease in mice.

 

  1. Chemical toxicity in almost every daily use products: Unregulated chemicals are increasingly prevalent in products people use every day, and that rise matches a concurrent rise in health conditions like cancers and childhood diseases, Thus, researcher in UCSF is working to understand the environment’s role – including exposure to chemicals – in health conditions.

 

  1. Cytomegalovirus found as common factor for diabetes and heart disease in young women: Cytomegalovirus is associated with risk factors for type 2 diabetes and heart disease in women younger than 50. Women of normal weight who were infected with the typically asymptomatic cytomegalovirus, or CMV, were more likely to have metabolic syndrome. Surprisingly, the reverse was found in those with extreme obesity.

 

References:

 

https://www.ucsf.edu/news/2017/12/409241/most-popular-science-stories-2017

 

https://www.ucsf.edu/news/2017/03/406111/surprising-new-role-lungs-making-blood

 

https://www.ucsf.edu/news/2017/03/406296/new-multiple-sclerosis-drug-ocrelizumab-could-halt-disease

 

https://www.ucsf.edu/news/2017/06/407351/dazed-and-confused-marijuana-legalization-raises-need-more-research

 

https://www.ucsf.edu/news/2017/01/405631/autism-researchers-discover-genetic-rosetta-stone

 

https://www.ucsf.edu/news/2017/09/408366/how-ketogenic-diets-curb-inflammation-brain

 

https://www.ucsf.edu/news/2017/07/407656/drug-reverses-memory-failure-caused-traumatic-brain-injury

 

https://www.ucsf.edu/news/2017/05/407121/new-hair-growth-mechanism-discovered

 

https://www.ucsf.edu/news/2017/06/407536/go-easy-avocado-toast-good-fat-can-still-be-bad-you-research-shows

 

https://www.ucsf.edu/news/2017/06/407416/toxic-exposure-chemicals-are-our-water-food-air-and-furniture

 

https://www.ucsf.edu/news/2017/02/405871/common-virus-tied-diabetes-heart-disease-women-under-50

 

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Genomic relationship between autism and bipolar disorder

Larry H. Bernstein, MD, FCAP, Curator

LPBI

 

Autism and Bipolar Disorder Share Common Genetic Roots

http://www.genengnews.com/gen-news-highlights/autism-and-bipolar-disorder-share-common-genetic-roots/81252698/

New study describes genetic commonalities among various psychiatric disorders. [Jonathan Bailey, NHGRI]

Complex neurological disorders, such as autism, schizophrenia, and bipolar disorder (BD) are the likely result of the influence of both common and rare susceptibility genes. While common variation has been widely studied over the past several years, rare variant elucidation has only recently become possible through the use next-generation sequencing techniques.

Now, research from scientists at the University of Iowa (UI) Carver College of Medicine, Johns Hopkins School of Medicine, Cold Spring Harbor Laboratory, and other institutions suggests that there may be genetic susceptibility across major psychiatric disorders—this being the first study to suggest a genetic overlap between bipolar disorder and autism.

Research into BDs is critical due to its high prevalence—affecting between 1% and 3% of the population—and debilitating nature. Although many patients are helped by treatments such as lithium, about one-third of people affected by BD are intractable to current therapies. Although it’s long been known that BD is highly heritable, identifying specific genetic variants that contribute to the illness has proven difficult.

Genomic studies in the past decade have helped uncover several so-called common variations, but none of these variations alone has shown a large effect. However, massively parallel sequencing technology has now provided investigators an opportunity to find rare variations that might individually have a large effect.

“Common variations are thought to each individually have only a tiny impact—for example, increasing a person’s likelihood of getting a disease by 10–20%,” explained senior study author James Potash, M.D., professor and head of the department of psychiatry at UI. “The hope with rare variations is that they individually have a much bigger impact, like doubling or quadrupling risk for disease.”

For this study, the scientists devised a two-tiered strategy, combining a case–control approach with family-based exome sequencing to maximize their chances of identifying rare variants that contribute to BD. Their thinking was that if a genetic variant is found more often in the group of individuals who have the disease compared to a control group of people without the condition, then the gene variation might be associated with increasing susceptibility to the disease.

Moreover, comparing exome sequences of related individuals affected and unaffected by BD can distinguish variants that “travel with” or segregate with the disease. This approach has long been used to identify gene variants or mutations that are passed from parents to children that cause disease.

The findings from this study were published recently in JAMA Psychiatry in an article entitled “Exome Sequencing of Familial Bipolar Disorder.”

The researchers were able to identify, from the family study, 84 rare variants (in 82 genes) that segregated with BD and that were also predicted to be damaging to the proteins encoded by those genes. Subsequently, the research team tested the likelihood that these rare variations might be involved in causing BD by looking for them in three large case–control datasets that included genome sequences from a total of 3541 individuals with BD and 4774 control patients.

Interestingly, despite the large size of the combined datasets, the approach was not powerful enough to identify any of the individual rare variants as definitively associated with BD. However, 19 genes stood out as being overrepresented in BD cases compared to controls.

“The results were not strong enough for us to say ‘we have pinpointed the genetic culprits.’ But it was strong enough for us to remain interested in these genes as potential contributors to bipolar disorder,” noted Dr. Potash.

Yet, when the team considered the 19 genes as a group, they surmised that several were also members of groups of genes that had been implicated in autism and schizophrenia.

“It turned out that the schizophrenia and the autism genes were all more represented among our 82 genes than you would expect by chance,” Dr. Potash remarked. “And when we looked at our whittled down group of 19 genes, the autism genes continued to be unexpectedly prominent among them.

“With studies like this we are finally, after decades of effort, making real progress in nailing down groups of genes and variations in them that play a role in causing bipolar disorder,” Dr. Potash added. “The mechanistic insights we gain from identifying associated genes we hope will point us in the direction of developing new treatments to make a difference for the many people affected by this illness.

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