Feeds:
Posts
Comments

Archive for the ‘Bio Instrumentation in Experimental Life Sciences Research’ Category

Metabolomics is about Metabolic Systems Integration

Author and Curator: Larry H Bernstein, MD, FCAP 

 

This is an exploration of biological thoughts in the series on metabolomics, putting enzymatic reactions, proteins and protein conformation, and subanatomic structure into a more complete perspective in order to realize normal and dysfunctional states

of eukaryoticcells and organ systems and prokaryotic organisms.  There are structures and functions that have evolved in evolution that have concordance, even
if we find variation on themes.  Moreover, these have to be understood in a systems oriented view to have any clarity, which is currently an ongoing proposal.
It is perhaps relevant to quote Radoslav Bosov on his observation:

“After finishing her portion of the work on DNA, Franklin led pioneering work on the tobacco mosaic virus and the polio virus. She died in 1958 at the age of 37 of ovarian cancer.”  My job is to illuminate what is cancer, but serving structural identity issues.

DNA is not DNA, as RNA is not RNA as proteins are not Proteins, there is only time – interference of particles/strings/waves within ever emerging discrete relative spaces where energy transforms from one absolute form into another!

He adds the following: “A 2005 study showed methionine restriction without energy restriction extends mouse lifespan.” BUT balancing energy is not as same as balancing matter due quantum electrodynamics interference and transfromability – http://en.wikipedia.org/wiki/Methionine

I have made the following calculations!

1 – methyl groups = i Ln (1 – Lactate )/Ln (Oxygen) – K (O) =

i Ln (1/(Sqrt (1 – Acetate^2)) /Ln(Oxygen) – K(O) = i Ln (Glyoxylate)/Ln (Oxygen) – K(O)

where K(O) – mechanical electro magnetics pressure, with increase of T, increase of S (entropy), and 1-S = negative entropy

But don’t try to realize the path of derivation, it would get you in dark matter issues – water!

The problem seems to be:

  1. Methionine is necessary to provide S for acetyl CoA
  2. Insufficiency of this amino acid has consequences, which leads to increased homocysteine
  3. This imbalance is also associated with a decrease in lewan body mass
  4. Of course, the reality is that geographic location, proximity to volcanic ash, and temperate zone have relevance, as does food source, and they are relevant variables

JEDS Rosalino has referred to the important conclusion in Erwin Schroedinger’s “What is Life?”, and Schroedinger’s cat.  It is impossible to come up with a predictive equation to explain life.
It had to come from a founder of “Quantum Mechanics” because, unlike economics, physics is a science based on experimental validation.  In entering biology from Physics to make it more rigorous, as was the case for  Max Delbruck, who was preceded by the Cori’s, Beadle and Tatum, Herschey, Luria, Dubecco, Kornberg and Ochoa, Lipmann, Watson and Crick, a discipline called “Molecular Biology and Biochemistry” emerged that would open the secrets of life.  Beadle and Tatum gave us “one gene – one enzyme”, a formulation that led in medical teaching from William Osler’s edict to “Inherited Metabolic Disorders” – gene related disruption of the chemical reactions taking place in the body to convert or use energy. Physiological chemistry taught:

  1. Breaking down the carbohydrates, proteins, and fats in food to release energy.
  2. Transforming excess nitrogen into waste products excreted in urine.
  3. Breaking down or converting chemicals into other substances and transporting them inside cells.

Metabolism is an organized but chaotic chemical assembly line. Raw materials, half-finished products, and waste materials are constantly being used, produced, transported, and excreted. The “workers” on the assembly line are enzymes and other proteins that make chemical reactions happen. – http://www.webmd.com/a-to-z-guides/inherited-metabolic-disorder-types-and-treatments

The original cause of most genetic metabolic disorders is a gene mutation that occurred many, many generations ago. Each inherited metabolic disorder is quite rare in the general population, affecting about 1 in 1,000 to 2,500 newborns. But the developments now refocused an emphasis on HOW – a gene mutation occurs that is passed on through generations.  This had to be derived initially from methods developed in prokaryotes in order to relieve the complexity.  However, complexity came from evolutionary events over a long time span.

Part I. Transcription regulation

The timing is right

R Magnus N Friis  & Michael C Schultz
Affiliations  Corresponding author

Nature Structural & Molecular Biology 07 Oct 2014; 21: 846–847
http://dx.doi.org:/10.1038/nsmb.2898

Yeast cells display synchronized oscillation between

  • phases of high and low oxygen consumption
  • accompanied by a program of cyclical gene expression.

A study monitoring

  • mRNA levels,
  • histone modifications and
  • chromatin occupancy of histone modifiers

during the yeast metabolic cycle (YMC) at high temporal resolution reveals both

  • ‘just-in-time’ supply of YMC gene products and
  • new patterns of chromatin reconfiguration

associated with transcriptional regulation.

Figure 1: The yeast metabolic cycle.

yeast metabolic cycle.

The YMC is divided into metabolic phases that correspond to periods of high and low oxygen concentration in the culture medium. The program of gene (mRNA) expression during the YMC is composed of successive reductive-charging (RC),…
http://www.nature.com/nsmb/journal/v21/n10/carousel/nsmb.2898-F1.jpg

Figure 2: Modes of transcriptional regulation during the YMC.

Modes of transcriptional regulation during the YMC

Modes of transcriptional regulation during the YMC

(a) Previous work on cycling cells in batch culture revealed that H3K4me3 is typically limited to the promoter region of active genes (MET16 shown here 9, 10). (b) During the YMC, however, the OX gene RMT2 is marked by H3K4me3 regardles…

http://www.nature.com/nsmb/journal/v21/n10/carousel/nsmb.2898-F2.jpg

High-temporal-resolution view of transcription and chromatin states across distinct metabolic states in budding yeast

Z Kuang, L Cai, X Zhang, H Ji, BP Tu  & JD Boeke
Affiliations Contributions Corresponding authors

Nature Structural & Molecular Biology 31 Aug,2014; 21: 854–863
http://dx.doi.org:/10.1038/nsmb.2881

Under continuous, ​glucose-limited conditions, budding yeast exhibit

  1. robust metabolic cycles
  2. associated with major oscillations of gene expression.

We examine the correlated

  1. genome-wide transcription and chromatin states
  2. across the yeast metabolic cycle
  3. at unprecedented temporal resolution,
  4. revealing a ‘just-in-time supply chain’

by which components from specific cellular processes such as ribosome biogenesis become available in a highly coordinated manner. We identify

  1. distinct chromatin and splicing patterns
  2. associated with different gene categories and
  3. determine the relative timing of chromatin modifications
  4. relative to maximal transcription.

There is unexpected variation in the chromatin modification and expression relationship, with

  1. histone acetylation peaks occurring with
  2. varying timing and ‘sharpness’ relative to RNA expression
  3. both within and between cycle phases.

Chromatin-modifier occupancy reveals subtly distinct spatial and temporal patterns compared to those of the modifications themselves.

Figure 1: High-temporal-resolution analysis of gene expression reveals meticulous temporal compartmentalization in yeast.

High-temporal-resolution analysis of gene expression

High-temporal-resolution analysis of gene expression

Oscillation of ​oxygen (dO2) in the YMC. The 16 time points of one cycle for RNA-seq are labeled. Metabolic phases are color coded throughout figures: magenta, OX phase; green, RB phase; blue, RC phase. (b–d) Subtly distinct tempor…

http://www.nature.com/nsmb/journal/v21/n10/carousel/nsmb.2881-F1.jpg

Figure 2: RNA-seq analysis at introns reveals transient accumulation of pre-mRNAs during OX phase.

RNA-seq analysis at introns reveals transient accumulation of pre-mRNAs

RNA-seq analysis at introns reveals transient accumulation of pre-mRNAs

Relative RNA signals at intron-containing genes. Each track represents relative RNA levels at one of 16 time points, ordered sequentially from top to bottom. Signals are displayed as a percentage of the maximum value of the 16 time…
http://www.nature.com/nsmb/journal/v21/n10/carousel/nsmb.2881-F2.jpg

Figure 3: Dynamic chromatin states across the YMC.

Dynamic chromatin states across the YMC

Dynamic chromatin states across the YMC

(a)Oscillation of ​oxygen in one YMC. Cycling cells were collected at 16 intentionally uneven time points over one cycle for ChIP-seq. (b,c) Temporal relationship between RNA level and histone modifications at the ​RMT2 locus. (b) RNA…

http://www.nature.com/nsmb/journal/v21/n10/carousel/nsmb.2881-F3.jpg

Part 2. Structure of metabolic channeling

Enzyme clustering accelerates processing of intermediates through metabolic channeling

Michele Castellana, Maxwell Z Wilson, Yifan Xu, Preeti Joshi, Ileana M Cristea, Joshua D Rabinowitz, Zemer Gitai & Ned S Wingreen
Affiliations Contributions Corresponding authors

Nature Biotechnology (2014)32, 1011–1018
http://dx.doi.org:/10.1038/nbt.3018

We present a quantitative model to demonstrate that

  • coclustering multiple enzymes into compact agglomerates
  • accelerates the processing of intermediates,
  • yielding the same efficiency benefits as direct channeling,

a well-known mechanism in which enzymes are funneled between enzyme active sites through a physical tunnel. The model predicts

  • the separation and size of coclusters that maximize metabolic efficiency,
  • and this prediction is in agreement with previously reported spacings between coclusters in mammalian cells.

For direct validation, we study a metabolic branch point in Escherichia coli and experimentally confirm the model prediction that enzyme agglomerates can

  • accelerate the processing of a shared intermediate by one branch, and thus
  • regulate steady-state flux division.

Our studies establish a quantitative framework to understand coclustering-mediated metabolic channeling

Figure 1: Different types of intermediate channeling in a two-step metabolic pathway, where a substrate is processed by enzyme E1 and turned into intermediate, which is then processed by enzyme E2 and turned into product.

two-step metabolic pathway

two-step metabolic pathway

Direct channeling. The intermediate is funneled from enzyme E1 to enzyme E2 by means of a protein tunnel that connects the active sites of E1 and E2, thus preventing the intermediate from diffusing away. (b) Proximity channeling. http://www.nature.com/nbt/journal/v32/n10/carousel/nbt.3018-F1.jpg

Figure 2: Two-step metabolic pathway with an unstable intermediate.

Two-step metabolic pathway with an unstable intermediate

Two-step metabolic pathway with an unstable intermediate

(a) The two-step metabolic pathway. Substrate S0 is processed by enzyme E1 and turned into intermediate S1, which is then processed by enzyme E2 and turned into product P. (b) Enzyme configurations in the two-step metabolic pathway. Le…
http://www.nature.com/nbt/journal/v32/n10/carousel/nbt.3018-F2.jpg

Part 3. Antibiotics directed at specific DNA sequences

Sequence-specific antimicrobials using efficiently delivered RNA-guided nucleases

Robert J Citorik, Mark Mimee & Timothy K Lu
Affiliations Contributions Corresponding author

Nature Biotechnology 21 Sep 2014;
http://dx.doi.org:/10.1038/nbt.3011

Current antibiotics tend to be broad spectrum, leading to

  • indiscriminate killing of commensal bacteria and
  • accelerated evolution of drug resistance.

Here, we use CRISPR-Cas technology to create antimicrobials

  • whose spectrum of activity is chosen by design.

RNA-guided nucleases (RGNs) targeting specific DNA sequences are delivered efficiently to microbial populations using bacteriophage or bacteria carrying plasmids transmissible by conjugation. The DNA targets of RGNs can be

  • undesirable genes or polymorphisms,
  • including antibiotic resistance and virulence determinants in
  1. carbapenem-resistant Enterobacteriaceae and
  2. enterohemorrhagic Escherichia coli.

Delivery of RGNs significantly improves survival in a Galleria mellonella infection model. We also show that

  • RGNs enable modulation of complex bacterial populations
  • by selective knockdown of targeted strains
  • based on genetic signatures.

RGNs constitute a class of highly discriminatory, customizable antimicrobials that enact

  • selective pressure at the DNA level to
  1. reduce the prevalence of undesired genes,
  2. minimize off-target effects and
  3. enable programmable remodeling of microbiota.

Figure 1: RGN constructs delivered by bacteriophage particles (ΦRGN) exhibit efficient and specific antimicrobial effects against strains harboring plasmid or chromosomal target sequences

RGN constructs delivered by bacteriophage particles

RGN constructs delivered by bacteriophage particles

(a) Bacteriophage-delivered RGN constructs differentially affect host cell physiology in a sequence-dependent manner. If the target sequence is: (i) absent, the RGN exerts no effect; (ii) chromosomal, RGN activity is cytotoxic; (iii) e…

http://www.nature.com/nbt/journal/vaop/ncurrent/carousel/nbt.3011-F1.jpg

Figure 3: ΦRGN particles elicit sequence-specific toxicity against enterohemorrhagic E. coli in vitroand in vivo.

ΦRGN particles elicit sequence-specific toxicity against enterohemorrhagic E. coli in vitro and in vivo.

ΦRGN particles elicit sequence-specific toxicity against enterohemorrhagic E. coli in vitro and in vivo.

(a) E. coli EMG2 wild-type (WT) cells or ATCC 43888 F′ (EHEC) cells were treated with SM buffer, ΦRGNndm-1 orΦRGNeae at a multiplicity of infection (MOI) ~100 and plated onto LB agar to enumerate total cell number or LB+kanamycin (Km)…  http://www.nature.com/nbt/journal/vaop/ncurrent/carousel/nbt.3011-F3.jpg

Part 4. Structure and Isoform functions

Structures of human constitutive nitric oxide synthases.

H Li, J Jamal, C Plaza, SH Pineda, G Chreifi, Q Jing, MA Cinelli, RB Silverman, TLPoulos, [more]
Acta Crystallographica Section D Biological Crystallography (Impact Factor: 12.67). 10/2014; 70(Pt 10):2667-74.
http://dx.doi.org:/10.1107/S1399004714017064

Mammals produce three isoforms of nitric oxide synthase (NOS):

  1. neuronal NOS (nNOS),
  2. inducible NOS (iNOS) and
  3. endothelial NOS (eNOS).

The overproduction of NO by nNOS is associated with a number of neurodegenerative disorders; therefore, a desirable therapeutic goal is

  • the design of drugs that target nNOS
  • but not the other isoforms.

Crystallography, coupled with computational approaches and medicinal chemistry, has played a critical role in developing highly

  • selective nNOS inhibitors that
  • exhibit exceptional neuroprotective properties.

For historic reasons, crystallography has focused on rat nNOS and bovine eNOS because these were available in high quality; thus, their structures have been used in

  • structure-activity-relationship studies.

Although these constitutive NOSs share more than 90% sequence identity across mammalian species for each NOS isoform,

  • inhibitor-binding studies revealed that subtle differences near the heme active site
  • in the same NOS isoform across species still impact enzyme-inhibitor interactions.

Therefore, structures of the human constitutive NOSs are indispensible. Here, the first structure of human neuronal NOS at 2.03 Å resolution is reported and a different crystal form of human endothelial NOS is reported at 1.73 Å resolution.

“We are learning more about less and less” – PJ Russell. 1973.

Part 5.  Global Metabolomics

Global Metabolomics Market (Technique, Application, Indication and Geography) – Size, Application Analysis, Regional Outlook, Competitive Strategies and Forecasts, 2014 – 2020

Metabolomics is

  • the study of chemical processes which involve metabolites.

Metabolites are small molecules present in the blood, tissues and urine. Metabolomics pertains to the study of the

  • unique chemical fingerprints left behind by cellular processes.

These metabolite fingerprints could be used to learn about the health of an organism. It is an upcoming technology in the field of analytical biochemistry. Metabolomics has become an experimental technique that can be applied in medicine, biology and environmental science. The incorporation of computers has enabled

the creation of computational metabolomics that has application in life sciences.

Metabolics finds application in other areas as well; for instance, it is used to identify the quality, taste and nutritional value of food in the food science field.

The metabolomics market is segmented based on its application in different fields such as

  • biomarkers discovery,
  • drug discovery,
  • toxicology testing,
  • nutrigenomics,
  • clinical studies etc.

The drug discovery segment holds the dominant share in the metabolomics market due to its crucial role in

  • drug target identification & validation and
  • optimization & prioritization of diagnostic approaches for oncology research.

The metabolomics market is expected to grow at a rapid rate due to the rise in the number of

  • pre clinical & clinical trials,
  • advancements in toxicological studies and
  • growing awareness about nutritional products.

The stellar growth of data analysis software & solutions in metabolomics and its use in the biomarker screening of diseases would fuel the growth of the metabolomics market. The metabolomics market is also segmented based on techniques into

  • gas chromatography,
  • high performance liquid chromatography (HPLC),
  • ultra performance liquid chromatography, and
  • capillary electrophoresis.

HPLC holds the dominant share in the metabolomics market.

KEY BENEFITS

In-depth analysis of various regions would enable a clear understanding of current and future trends so that companies can make region specific plans

Comprehensive analysis of the factors that drive and restrict the growth of the metabolomics market

Key regulatory guidelines in various regions which impact the metabolomics market

Quantitative analysis of the current market

Deep dive analysis of various regions

Value chain analysis enables a clear understanding of the roles of the stakeholders involved in the supply chain of the metabolomics market

Market Segmentation

The metabolomics market is segmented based on techniques, applications, indication and geography

Techniques

Separation Method

  • Gas Chromatography
  • Capillary Electrophoresis
  • High Performance Liquid Chromatography
  • Ultra Performance Liquid Chromatography

Detection Methods

  • Nuclear Magnetic Resonance
  • Mass Spectrometry
  • Surface Base Mass Analysis

Application

  • Biomarkers Discovery
  • Drug Discovery
  • Toxicology Testing
  • Nutrigenomics
  • Clinical & Preclinical Studies

Indications

  • Oncology
  • Neurology
  • Cardiology
  • Others

Read Full Post »

Imaging-guided cancer treatment

Imaging-guided cancer treatment

Writer & reporter: Dror Nir, PhD

It is estimated that the medical imaging market will exceed $30 billion in 2014 (FierceMedicalImaging). To put this amount in perspective; the global pharmaceutical market size for the same year is expected to be ~$1 trillion (IMS) while the global health care spending as a percentage of Gross Domestic Product (GDP) will average 10.5% globally in 2014 (Deloitte); it will reach ~$3 trillion in the USA.

Recent technology-advances, mainly miniaturization and improvement in electronic-processing components is driving increased introduction of innovative medical-imaging devices into critical nodes of major-diseases’ management pathways. Consequently, in contrast to it’s very small contribution to global health costs, medical imaging bears outstanding potential to reduce the future growth in spending on major segments in this market mainly: Drugs development and regulation (e.g. companion diagnostics and imaging surrogate markers); Disease management (e.g. non-invasive diagnosis, guided treatment and non-invasive follow-ups); and Monitoring aging-population (e.g. Imaging-based domestic sensors).

In; The Role of Medical Imaging in Personalized Medicine I discussed in length the role medical imaging assumes in drugs development.  Integrating imaging into drug development processes, specifically at the early stages of drug discovery, as well as for monitoring drug delivery and the response of targeted processes to the therapy is a growing trend. A nice (and short) review highlighting the processes, opportunities, and challenges of medical imaging in new drug development is: Medical imaging in new drug clinical development.

The following is dedicated to the role of imaging in guiding treatment.

Precise treatment is a major pillar of modern medicine. An important aspect to enable accurate administration of treatment is complementing the accurate identification of the organ location that needs to be treated with a system and methods that ensure application of treatment only, or mainly to, that location. Imaging is off-course, a major component in such composite systems. Amongst the available solution, functional-imaging modalities are gaining traction. Specifically, molecular imaging (e.g. PET, MRS) allows the visual representation, characterization, and quantification of biological processes at the cellular and subcellular levels within intact living organisms. In oncology, it can be used to depict the abnormal molecules as well as the aberrant interactions of altered molecules on which cancers depend. Being able to detect such fundamental finger-prints of cancer is key to improved matching between drugs-based treatment and disease. Moreover, imaging-based quantified monitoring of changes in tumor metabolism and its microenvironment could provide real-time non-invasive tool to predict the evolution and progression of primary tumors, as well as the development of tumor metastases.

A recent review-paper: Image-guided interventional therapy for cancer with radiotherapeutic nanoparticles nicely illustrates the role of imaging in treatment guidance through a comprehensive discussion of; Image-guided radiotherapeutic using intravenous nanoparticles for the delivery of localized radiation to solid cancer tumors.

 Graphical abstract

 Abstract

One of the major limitations of current cancer therapy is the inability to deliver tumoricidal agents throughout the entire tumor mass using traditional intravenous administration. Nanoparticles carrying beta-emitting therapeutic radionuclides [DN: radioactive isotops that emits electrons as part of the decay process a list of β-emitting radionuclides used in radiotherapeutic nanoparticle preparation is given in table1 of this paper.) that are delivered using advanced image-guidance have significant potential to improve solid tumor therapy. The use of image-guidance in combination with nanoparticle carriers can improve the delivery of localized radiation to tumors. Nanoparticles labeled with certain beta-emitting radionuclides are intrinsically theranostic agents that can provide information regarding distribution and regional dosimetry within the tumor and the body. Image-guided thermal therapy results in increased uptake of intravenous nanoparticles within tumors, improving therapy. In addition, nanoparticles are ideal carriers for direct intratumoral infusion of beta-emitting radionuclides by convection enhanced delivery, permitting the delivery of localized therapeutic radiation without the requirement of the radionuclide exiting from the nanoparticle. With this approach, very high doses of radiation can be delivered to solid tumors while sparing normal organs. Recent technological developments in image-guidance, convection enhanced delivery and newly developed nanoparticles carrying beta-emitting radionuclides will be reviewed. Examples will be shown describing how this new approach has promise for the treatment of brain, head and neck, and other types of solid tumors.

The challenges this review discusses

  • intravenously administered drugs are inhibited in their intratumoral penetration by high interstitial pressures which prevent diffusion of drugs from the blood circulation into the tumor tissue [1–5].
  • relatively rapid clearance of intravenously administered drugs from the blood circulation by kidneys and liver.
  • drugs that do reach the solid tumor by diffusion are inhomogeneously distributed at the micro-scale – This cannot be overcome by simply administering larger systemic doses as toxicity to normal organs is generally the dose limiting factor.
  • even nanoparticulate drugs have poor penetration from the vascular compartment into the tumor and the nanoparticles that do penetrate are most often heterogeneously distributed

How imaging could mitigate the above mentioned challenges

  • The inclusion of an imaging probe during drug development can aid in determining the clearance kinetics and tissue distribution of the drug non-invasively. Such probe can also be used to determine the likelihood of the drug reaching the tumor and to what extent.

Note: Drugs that have increased accumulation within the targeted site are likely to be more effective as compared with others. In that respect, Nanoparticle-based drugs have an additional advantage over free drugs with their potential to be multifunctional carriers capable of carrying both therapeutic and diagnostic imaging probes (theranostic) in the same nanocarrier. These multifunctional nanoparticles can serve as theranostic agents and facilitate personalized treatment planning.

  • Imaging can also be used for localization of the tumor to improve the placement of a catheter or external device within tumors to cause cell death through thermal ablation or oxidative stress secondary to reactive oxygen species.

See the example of Vintfolide in The Role of Medical Imaging in Personalized Medicine

vinta

Note: Image guided thermal ablation methods include radiofrequency (RF) ablation, microwave ablation or high intensity focused ultrasound (HIFU). Photodynamic therapy methods using external light devices to activate photosensitizing agents can also be used to treat superficial tumors or deeper tumors when used with endoscopic catheters.

  • Quality control during and post treatment

For example: The use of high intensity focused ultrasound (HIFU) combined with nanoparticle therapeutics: HIFU is applied to improve drug delivery and to trigger drug release from nanoparticles. Gas-bubbles are playing the role of the drug’s nano-carrier. These are used both to increase the drug transport into the cell and as ultrasound-imaging contrast material. The ultrasound is also used for processes of drug-release and ablation.

 HIFU

Additional example; Multifunctional nanoparticles for tracking CED (convection enhanced delivery)  distribution within tumors: Nanoparticle that could serve as a carrier not only for the therapeutic radionuclides but simultaneously also for a therapeutic drug and 4 different types of imaging contrast agents including an MRI contrast agent, PET and SPECT nuclear diagnostic imaging agents and optical contrast agents as shown below. The ability to perform multiple types of imaging on the same nanoparticles will allow studies investigating the distribution and retention of nanoparticles initially in vivo using non-invasive imaging and later at the histological level using optical imaging.

 multi

Conclusions

Image-guided radiotherapeutic nanoparticles have significant potential for solid tumor cancer therapy. The current success of this therapy in animals is most likely due to the improved accumulation, retention and dispersion of nanoparticles within solid tumor following image-guided therapies as well as the micro-field of the β-particle which reduces the requirement of perfectly homogeneous tumor coverage. It is also possible that the intratumoral distribution of nanoparticles may benefit from their uptake by intratumoral macrophages although more research is required to determine the importance of this aspect of intratumoral radionuclide nanoparticle therapy. This new approach to cancer therapy is a fertile ground for many new technological developments as well as for new understandings in the basic biology of cancer therapy. The clinical success of this approach will depend on progress in many areas of interdisciplinary research including imaging technology, nanoparticle technology, computer and robot assisted image-guided application of therapies, radiation physics and oncology. Close collaboration of a wide variety of scientists and physicians including chemists, nanotechnologists, drug delivery experts, radiation physicists, robotics and software experts, toxicologists, surgeons, imaging physicians, and oncologists will best facilitate the implementation of this novel approach to the treatment of cancer in the clinical environment. Image-guided nanoparticle therapies including those with β-emission radionuclide nanoparticles have excellent promise to significantly impact clinical cancer therapy and advance the field of drug delivery.

Read Full Post »

Imaging-Biomarkers; from discovery to validation

Author: Dror Nir, PhD.

Preface

Recent technology advances such as miniaturization and improvement in electronic-processing components is driving increased introduction of innovative medical-imaging devices into critical nodes of major-diseases’ management pathways. Similarly, medical imaging bears outstanding potential to improve the process of drugs development and regulation (e.g. companion diagnostics and imaging surrogate markers. In; The Role of Medical Imaging in Personalized Medicine I discussed in length the role medical imaging assumes in drugs development.  Integrating imaging into drug development processes, specifically at the early stages of drug discovery, as well as for monitoring drug delivery and the response of targeted processes to the therapy is a growing trend. A nice (and short) review highlighting the processes, opportunities, and challenges of medical imaging in new drug development is: Medical imaging in new drug clinical development. An important aspect of drug development that is largely discussed is facilitating testing of the new drug through clinical studies. A major hurdle in development of many anti-cancer drugs is the long time that is required to determine the efficacy of the new drug through measurement of clinically meaningful endpoints; e.g. overall survival. Imaging is offering the opportunity to determine surrogate markers of clinical outcome (as a substitute for a clinically meaningful endpoints). The need for surrogate outcome markers is especially great with newer agents that may act by tumour stabilization as opposed to shrinkage.

To comply with current trends; e.g. personalized medicine and evidence-based medicine, medical imaging must support quantification of meaningful pathological phenomena; e.g. morphological deformations, enhanced/reduced chemical reactions, presence/absence of biological substances etc….

 

Two examples: 

Molecular imaging (e.g. PET, MRS) allows the visual representation, characterization, and quantification of biological processes at the cellular and subcellular levels within intact living organisms. In oncology, it can be used to depict the abnormal molecules as well as the aberrant interactions of altered molecules on which cancers depend. An established biological process is neoplastic angiogenesis is associated with a number of detectable changes at molecular and microcirculatory levels. In Positron emission tomographic imaging of angiogenesis and vascular function the authors are offering that direct study of angiogenic molecular biology and tumour circulation before during and after treatment may offer useful surrogate markers for vascular-targeted therapies. The paper reviews two main areas: (a) the methodology behind PET imaging of tumour blood supply with 15O-oxygen labelled compounds; and (b) newer tracers in development as markers of angiogenetic biology.

A largely sought-for application for medical imaging is Monitoring quality of surgery: Cancer patients could benefit from a surgical procedure that helps the surgeon to determine adequate tumor resection margins. Variety of applications and work-flows; e.g. Systemic injection of tumor-specific fluorescence agents with subsequent intraoperative optical imaging to guide the surgeon in the process are offered. Recently, in order to overcome the problem of tumor heterogeneity it was proposed to shift the focus of tumor targeting towards the follicle-stimulating hormone receptor (FSHR).

Imaging bio-markers

Being able to discover and clinically validate fundamental finger-prints of cancer which can be detected and quantified through medical-imaging modalities is key to transforming the potential presented by medical imaging into clinical reality. Such specific finger-prints/characteristics are usually referred to as imaging bio-markers.

A critical step in the discovery and validation of imaging bio-markers is the matching of tissue location as depicted by imaging-products (most commonly images) to their histology, as underlined by a pathologist under the microscope.

Since histology requires extraction of organ tissue and some processing, it is impossible to achieve such matching in real time. Therefore, different techniques were developed to support the retrospective matching between histology and imaging. The most prevalent one rely on image registration: i.e. the products of medical imaging are registered to images of pathology slides. The main limitation of such methods has to do with:

  1. The fact that the two images poses largely different image resolution.
  2. The form-factor (shape and dimensions) of Histological tissue-slides are distorted in comparison to their in-vivo state.
  3. Histology-reading is subjective; i.e. the concordance between readings of different pathologist is far from being satisfactory. It gets worse when it comes to staging of the cancer.
  4. There is large variation in the quality of medical imaging products.

A Workflow to Improve the Alignment of Prostate Imaging with Whole-mount Histopathology presents a robust methodology validating imaging biomarkers in the case of prostate cancer. In this paper we describe a workflow for three-dimensional alignment of prostate imaging data against whole-mount prostatectomy reference specimens and assess its performance against a standard workflow. We hypothesized that integration of image registration principles into the histological workflow for radical prostatectomy specimens would increase the alignment accuracy. In this post I will include only few excerpts from this paper which I strongly recommend to read in full.

Materials and Methods

Ethical approval was granted. Patients underwent motorized transrectal ultrasound (Prostate Histoscanning) to generate a three-dimensional image of the prostate before radical prostatectomy. The test workflow incorporated steps for axial alignment between imaging and histology, size adjustments following formalin fixation, and use of custom-made parallel cutters and digital caliper instruments. The control workflow comprised freehand cutting and assumed homogeneous block thicknesses at the same relative angles between pathology and imaging sections. The basic requirements of image registration were incorporated within the pathological protocol.

We demonstrate that the use of a simple, custom-made tissue-planer to slice the formalin-fixed prostate results in more uniform and parallel tissue blocks than conventional freehand techniques, and increases the accuracy of image alignment.  We also show that accounting for dimensional change due to formalin fixation is essential during image alignment.

Figure 1: Suggested workflow for registration of scanned histopathological data with radiological imaging

 fig1

 Figure 3

A sketch of the tissue cutting device is shown (A).  The formalin-fixed prostate was placed on the space marked “X” on the device with its flat posterior surface facing down.  With the probe in the urethra to align the AP axis with the device, the base of the gland was gently pressed onto “Y”.  The probe was then removed, and a mounted microtome blade was lowered along the 4mm raised edge of the device from top to bottom to cut away the block (B).  The sliced block was put aside with its apical face facing down, and the process was repeated by gently pressing the cut surface flush against the device before each cut (C).  The thickness of each block was measured in 5 locations marked (D).

fig3

Results

Thirty radical prostatectomy specimens were histologically and radiologically processed, either by an alignment-optimized workflow (n = 20) or a control workflow (n = 10). The optimized workflow generated tissue blocks of heterogeneous thicknesses but with no significant drifting in the cutting plane. The control workflow resulted in significantly nonparallel blocks, accurately matching only one out of four histology blocks to their respective imaging data. The image-to-histology alignment accuracy was 20% greater in the optimized workflow (P < .0001), with higher sensitivity (85% vs. 69%) and specificity (94% vs. 73%) for margin prediction in a 5 × 5-mm grid analysis.

Figure 5. Assessment of alignment accuracy between radiological images and pathological sections

The method of assessing alignment accuracy between radiological images and pathological slides is shown using an example.  Each square within the grids overlaid onto histology and radiological images were scored either as a “1”, indicating the presence of a histological or radiological margin, respectively, or “0”.  Scored pathology grids were used as the reference, and scored radiology grids were used as the index.  Hence, we determined true positives i.e. grid points score “1” in both histology and radiology (yellow squares, n=25), false positives i.e. grid points on the radiology scores “1” but not on histology (green squares, n=4), false negatives i.e. grid points on the histology scores “0” but not on radiology (red squares, n=3), and true negatives (grey squares, n=38).

 fig5

Conclusions

A significantly better alignment was observed in the optimized workflow. Evaluation of prostate imaging biomarkers using whole-mount histology references should include a test-to-reference spatial alignment workflow.

Read Full Post »

What VCs Think about Your Pitch? Panel Summary of 1st Pitch Life Science Philly

Reporter: Stephen J. Williams, PhD

 

The following is a summary of the panel discussions for the  1st Pitch Life Science- Philadelphia: “Eavesdropping on Investors’ Closed Door Discussions” held on September 16, 2014 in Philadelphia.  For synopsis of the meeting see

1st Pitch Life Science- Philadelphia- What VCs Really Think of your Pitch

The meeting, as described by meeting organizer and Steering Committee member of Mid Atlantic Bio Angels Lorraine Marchand, as a “benevolent sharktank”, where presenters get open and honest feedback from experienced venture capitalists on how to improve their pitch and business.  The meeting here in Philadelphia was well attended with” over 70 attendants compareable to the 130 we get in New york”, according to MABA Founder Yaniv Sneor.

 

A few key points were discussed to improve the presenters future pitches to VC.

  1. Define your technology/product, its purpose, how it fills an unmet need, and how you are unique.
  2. Timelines and Milestones VERY IMPORTANT to have specific dates on when and what you will accomplish.
  3. If your EXIT Strategy involves OUT-LICENSING, it is important to keep this in mind when framing your patent
  4. VC’s want to see a STRONG MANAGEMENT TEAM, preferably a CEO from big pharma if you need to deal with them later
  5. if PITCH sounds too much like a science project VC’s would NOT be interested.  Show also the BUSINESS not just science
  6. know the REGULATORY RISK – talk with the FDA
  7. if market is small, son’t fret, show PROOF OF CONCEPT then show how relates to other markets
  8. show your TANGIBLE ASSETS in your pitch – if you use a new equipment show it,

Other posts related to this meeting are included below

1st Pitch Life Science- Philadelphia- What VCs Really Think of your Pitch

Hastke Inc. Presents at 1st Pitch Life Sciences-Philadelphia

LytPhage Presents at 1st Pitch Life Sciences-Philadelphia

RAbD Biotech Presents at 1st Pitch Life Sciences-Philadelphia

Also FOLLOW on TWITTER at

@pharma_BI      https://twitter.com/Pharma_BI

@BioAngelsGroup     https://twitter.com/BioAngelsGroup

 

 

Read Full Post »

RAbD Biotech Presents at 1st Pitch Life Sciences-Philadelphia-September 16, 2014

Reporter: Stephen J. Williams, PhD

UPDATE 12/09/2022

The following is background material of RAbD technology, bispecific antibodies:

Current landscape and future directions of bispecific antibodies in cancer immunotherapy

Jing Wei1†, Yueyao Yang2†, Gang Wang2 and Ming Liu1*
  • 1Gastric Cancer Center/Cancer Center, West China Hospital, Sichuan University, Chengdu, China
  • 2National Engineering Research Center for Biomaterials, Sichuan University, Chengdu, China

Recent advances in cancer immunotherapy using monoclonal antibodies have dramatically revolutionized the therapeutic strategy against advanced malignancies, inspiring the exploration of various types of therapeutic antibodies. Bispecific antibodies (BsAbs) are recombinant molecules containing two different antigens or epitopes identifying binding domains. Bispecific antibody-based tumor immunotherapy has gained broad potential in preclinical and clinical investigations in a variety of tumor types following regulatory approval of newly developed technologies involving bispecific and multispecific antibodies. Meanwhile, a series of challenges such as antibody immunogenicity, tumor heterogeneity, low response rate, treatment resistance, and systemic adverse effects hinder the application of BsAbs. In this review, we provide insights into the various architecture of BsAbs, focus on BsAbs’ alternative different mechanisms of action and clinical progression, and discuss relevant approaches to overcome existing challenges in BsAbs clinical application.

1 Introduction

Immunotherapy breakthroughs in cancer treatment with synthetic multifunctional biotherapeutics have fueled cancer immunotherapy and the exploration of antibody alternative modes of action (1, 2). Conventional targeted or immunotherapeutic drugs can only be used to inhibit one or one class of targets, thus giving birth to some unique combination drug regimens. Currently, Constant engineering technical breakthroughs in antibody development have aided in producing many BsAb designs (3) (Figures 1C, D). Bispecific antibodies, constructed via quadroma, chemical conjugation, and genetic recombination (4), exert effector functions beyond natural antibodies through redirecting cells or modulating different pathways, providing numerous possibilities for therapeutic application and contributing to improving treatment responses in refractory tumor patients. Although more than a hundred BsAbs are currently under clinical evaluation in cancer treatment, most are still in the early stages (4), and only four BsAbs have been approved by FDA (Table 1). These include Catumaxomab (Fresenius/Trion’s Removab®) which was withdrawn from the market in 2017, Blinatumomab (Amgen’s Blincyto®), Amivantamab-vmjw (Janssen’s Rybrevant®), and Tebentafusp-tebn (Immunocore’s Kimmtrak®) (5–11).

Figure 1
www.frontiersin.orgFIGURE 1 CD3+ bispecific T-cell engaging antibodies exert function in Hematological Malignancies and recruit immune cells into the solid tumor microenvironment for cancer immunotherapy. The schematic depicts the mechanism of action of BsAbs in solid tumors (A) and Hematological Malignancies (B). besides, there shows partial fragments of antibody as well as the derivatives formats constructed from them in diagram (C) and various architecture of BsAbs in diagram (D) mentioned in this review.

Table 1
www.frontiersin.orgTABLE 1 Bispecific Antibody Approved by the FDA.

Furthermore, multiple studies investigate the mechanisms of action by which BsAbs detect various tumor targets such as angiogenesis, proliferation, invasion, and immune modulation. However, potential immunotherapy side effects must be considered, whereas toxicity in normal tissues and systemic immune responses limit the use of BsAbs (12–15). We concentrate on the advances in BsAbs design, mechanisms of action, and clinical trial development in this review (Table 2). We also talk about difficulties and potential solutions for enhancing drug delivery.

Table 2
www.frontiersin.orgTABLE 2 Bispecific Antibody Clinical Trials Ongoing.

2 BsAb construct formats

In natural bivalent antibodies, the two antigen binding sites are identical and consist of variable regions of the heavy chain and light chain. Bispecific antibodies (BsAbs) are dual-specificity molecules binding two different epitopes simultaneously, the concept of which has been first described decades ago by Nisonoff et al. (1). Since there are no naturally occurring bispecific antibodies, BsAbs were initially developed by chemically coupling two monoclonal antibody fragments or creating quadroma cell lines combined with two homologous hybridomas. The field of recombinant bispecific antibodies for diagnostic and therapeutic purposes has been transformed by the quickly developing engineering technologies and pharmaceutical industry, leading to a variety of BsAbs with varying size, half-life, valency, flexibility, and permeability (2). Recombinant DNA technology is now the most used technique for producing bispecific antibodies.

IgG-like antibody types (containing an Fc unit) and non-IgG-like (without an Fc unit) antibody formats are the two broad categories into which BsAbs can be generally categorized (3). The intention of this classification mechanism well emphasizes the existence of the Fc domain, which not only facilitates the functionality mentioned above but contributes to the solubility, stability, and purification of the BsAbs (4). Additionally, this region can be genetically altered to abolish antibody-dependent cell-mediated cytotoxicity (ADCC) or complement dependent cytotoxicity (CDC) while retaining the potential for a lengthy half-life (5). Although non-IgG-like antibody formats exert therapeutic activities depending on antigen-recognition domains, smaller size enables them to enhance tissue penetration while rapid renal clearance results in a relatively short plasma half-life.

Heavy and light chain mispairing poses serious problems for bispecific antibodies made in IgG formats from two distinct polypeptides, leading to ineffective antibodies or unwanted homodimers. In the interim, mitigation measures have been taken for such issues. For example, the “knobs-into-hole” approach has been developed to mutate the corresponding amino acid size of the third constant domain of the antibody for correctly pairing the heavy chain (6). In contrast, “the light chain mispairing” problems can be well circumvented by the “CrossMab” strategy by swapping the CL (light chain constant region) domain of the light chain with the corresponding CH1 domain of the heavy chain to construct a correct light chain association (7, 12). Other established and mature techniques to prevent light chain mispairing include Eli Lilly’s “Orthogonal Fab interface” by introducing amino acid mutations to the light chain and the tcBsIgG (tethered-variable CL bispecific IgG) platform developed by the Genentech, which focuses on linking the VL (light chain variable region) to VH (heavy chain variable region) via the G4S linker (8, 9). In addition, the asymmetric heavy chains also form the basis for constructing multi-specific antibodies, such as trispecific, trivalent, or tetravalent antibodies, with greater targeting specificities for cancer therapy.

The production of non-IgG-like BsAbs without an Fc unit can be accomplished using Fab fragments or by joining the variable light-heavy domains of two antibodies. These antibodies can be broadly categorized into scFv (single-chain variable fragment)-based bsAbs, Nanobodies, Dock-and-lock (DNL) method-building antibodies, and other bispecific/multi-specific molecules (10). The specificity and ability to bind to antigens of full-length antibodies are maintained by scFv, composed of the VL and VH domains connected by a flexible peptide. Additionally, the linker length significantly impacts how scFv molecules associate, resulting in various polymerizations such as dimers, trimers, or tetramers. The Tandem scFvs constructed by the Bispecific T-cell Engager (BiTE®) antibody platform link two scFvs with a repeat glycine-serine short motifs (11), which enables antigen recognizing sites to rotate flexibly.

In contrast, the linking method of the Diabody format is slightly different from Tandem scFvs (13). Heterodimerization of those fragments is induced by crossing the VH and VL domains of the two scFvs by two shorter polypeptide chains. Even if the two peptides linker facilitates the molecular stability to a certain extent, the intramolecular association between the VH and VL domains from the same scFv is hampered (14).

Further research on crystal structures suggests that the Fv contact’s instability impacts overall flexibility, and the diabodies are too rigid to crystallize. As a result, “Dual-affinity retargeting molecules”—an inter-chain disulfide bond—have been created to strengthen the structural stability of the diabodies (DARTs) (15, 16). However, the small size of this format makes the DARTs molecule rapidly eliminate from the serum, and this issue has been well solved by the strategy of Fc fragment fusion to the part of the DARTs, promoting FcRn-mediated recycling at the same time. The emergence of this constructive format of bispecific antibodies called “DART-Fc” was designed by MacroGenics. Besides, the polymerization of two diabodies connected by two polypeptide chains forms the “Tandem diabodies” (TandAbs), the tetravalent derivatives possessing two antigen-recognizing moieties for each antigen.

In addition to being synthesized from the constituents of various antibodies, BsAbs can be fused to other protein domains to improve their functions for future adaptive therapeutic uses. For example, the scFv-based BsAbs have relatively great tissue permeability and decreased immunogenicity for the lack of Fc unit. However, short half-lives caused by relatively low molecular mass will affect the serum circulating level, which induces the Increased administration and doses of therapeutic agents, thus limiting the clinical promoting application. The format “scFv-HSA-scFv”, fusing two scFvs to the albumin, and conjugation of Polyethylene glycol PEGylation are available application strategies for circulating half-life extension (17). Furthermore, the Dock-and-lock (DNL) method, creating multivalent and multifunctional antibody derivatives such as trivalent bispecific antibodies by heterodimerizing protein domains fused with Fab domains or integral antibodies, is another available antibody platform enabling more promising antibody construction with retained bioactivity (18) (Figure 1C).

3 BsAbs redirecting immune effector cells and reactivating anti-tumor immunity

3.1 Bispecific T-Cell Engagers (BiTE) recruiting adaptive effector cells for tumor redirection

Adaptive immunity is essential for monitoring and suppressing tumorigenesis and cancerous progression. T-cells are the focal point of many immunotherapies and have a potent tumor-killing effect as a crucial part of adaptive immunity. BiTE is a potential immunological drug that directs T lymphocytes against tumor cells to treat a variety of malignancies. The ideal BiTE molecular design needs to consider the following factors: firstly, a suitable CD3 binding arm should be selected; secondly, the affinity between TAA binding sites and anti-CD3 units should differ by at least 10-fold to achieve sequential binding to tumor cells and immune cells, thus reducing the risk of severe cytokine release syndrome (CRS); finally, an appropriate physical distance between the two antibody binding units can also play a role in improving the efficacy and reducing the risk of CRS.

The high affinity of CD3 binding will allow BiTE to occupy CD3 antigen and activate T cells continuously, eventually leading to T cell depletion. However, suitable affinity will bind to and dissociate from the CD3 antigen of distinct T cells and the repeated binding to T cells will cause a “waterfall effect” to cluster T cells, ultimately resulting in many T cells activating to attain the greatest tumor-killing effect. In addition, high CD3 binding affinity will make BiTE more concentrated in the spleen, thus making it difficult to reach tumor tissues, especially solid tumors. Physically bridging T cells with tumor cells by BiTEs enables catalyzing the formation of an optimal immunologic synapse, which’s important for T cells activation and robust cytotoxicity to target tumor cells, ultimately leading to apoptosis via membrane disruption mediated by perforin releasing. In addition, multiple cytokine secretion from T cells activated by BiTEs, like IL-2, IFN-γ, and TNF-α, enhance their effectiveness in the anti-tumor function (Figures 1A, B). Strategies that harness the potential of T cells to identify and kill cancer cells in a targeted manner have ushered in a new era of cancer therapy and led to the development of a wide range of immunotherapy devices.

3.1.1 BiTEs in hematologic malignancies

Due to the distinct traits of hematopoietic malignancies, immunotherapy for leukemia and lymphoma has assumed a leadership role and made significant advancements. Given the unique property of the hematological system, malignancy cells constantly interact with immune cells, making it easier for BiTE to exert anti-tumor actions (19). Among various forms of immunotherapy, engaging T cells in hematological malignancies mediated by bispecific antibodies (BsAbs) has been demonstrated as an attractive strategy for providing alternative treatment options for recurrent and/or refractory hematological malignancies patients (20). Bispecific T-cell engagers (BiTEs), consisting of two binding sites simultaneously for a selective tumor antigen and CD3 molecule expressed on host T cells, has been emerged as the most promising BsAb form (Figure 1B). A diverse variety of BiTEs have emerged for cancer immunotherapy, and the specific targets are mainly CD19, CD20, CD123, CD33, CD38, and B-cell maturation antigen (BCMA) in hematological malignancies. Ideal target antigens must satisfy the criteria uniquely expressed on malignant cells to avoid on-target/off-cancer toxicity and reduce the possibility of antigen-loss variants. Even though few target antigens satisfy the above demands simultaneously (21, 22), various types of BiTE with different antigen-recognition domains have been under exploration for hematological malignancies.

Blinatumomab (MT103), the first BiTE tested in clinical trials specifically designed to target T cells based on the recognition of CD3ϵ to CD19 expressing B cell hematologic malignancies, can induce immune-mediated B-cell lymphoblasts lysis led by cytotoxic T cells. CD19 is a transmembrane molecule relatively specific to B cells persisting throughout B-cell differentiation and existed on the surface of most B cell hematologic malignancies, which is a superior target for cancer immunotherapy achieving exceptional curative effect with R/R B cell ALL (Acute Lymphocytic Leukemia) patients. And the body’s function will not be seriously affected while the missing of normal B cells or bone marrow cells can be continuously replenished by hematopoietic stem cells.

A 7.1-month overall survival and a CR/CRh of 36%, including partial patients with a T315I mutation, were achieved in an open-label phase II study evaluating the efficacy and tolerability of Blinatumomab in Ph-positive (Ph+) B-precursor ALL in the setting of relapsing or refractory to TKI-based therapy. This study findings helped the FDA expand its approval for Ph+ ALL indication in July 2017 (23). MRD is the most powerful prognosticator of relapse in ALL, and MRD-negative status has become increasingly clear that significantly associated with better event-free survival (24, 25). series of clinical trials have demonstrated the potency and efficacy of Blinatumomab in eradicating persistent or relapsed MRD in B-ALL patients with an increased MRD response rate (26–30). Based on these encouraging clinical findings, Blinatumomab acquired accelerated approval by the FDA to expand clinical indications to patients with MRD-positive ALL in 2018 (30). Blinatumomab has also been studied in phase 1/2 dose-escalation experiments for R/R Non-Hodgkin lymphoma (NHL), including diffuse large B-cell lymphoma (DLBCL), reaching an overall response rate of more than 40% (31, 32).

Although the clinical benefits for B-ALL patients from Blinatumomab is obvious, there are still problems with severe neurological events (encephalopathy, aphasia, and seizures) and cytokine release syndrome. In most studies, about 10% of patients reported ≥ grade 3 CRS and/or neurological complications. Dexamethasone or treatment interruption can alleviate these unfavorable side effects. In spite of this, about 10% of patients discontinued with Blinatumomab application because of treatment-related toxicity. Lunsumio (Mosunetuzumab) was recently granted conditional marketing authorization by the European Commission, a CD20 × CD3 T-cell binding bispecific antibody, for treating adult patients with relapsed or refractory follicular lymphoma (FL) who have received at least two prior systemic treatments. Roche is also working on Glofitamab, a CD20 × CD3 bispecific antibody with a different structure than Mosunetuzumab. Mosunetuzumab is similar to a natural human antibody but contains two different Fab regions, one of which targets CD20 and the other targets CD3. Glofitamab has a novel “2:1” structural pattern with two Fab regions targeting CD20 and one Fab region targeting CD3. This novel structural design allows higher binding to CD20 at the B cell surface.

The classification of hematological tumors is complex and varied. Acute myeloid leukemia (AML) is a genetically diverse disease defined by leukemic cell clonal proliferation. BiTEs are an effective treatment for AML because AML cells are especially vulnerable to the cytotoxic effects of functioning immune cells. CD33 expression is limited in non-hematopoietic tissues but is highly expressed in AML cells. The differential expression of CD33 on the surface of malignant AML cells makes it an ideal target for immunotherapy. AMG 330, the first CD33 × CD3 BiTE applied for acute myeloid leukemia (AML) patients, has shown promising cytolytic activity against AML cells in preclinical studies even at low CD33 antigen densities on target cells, making it a candidate for targeting a broad range of CD33+ leukemias (33–35). AMG330, similar to Blinatumomab, requires a 2-4 week cycle of continuous intravenous (IV) infusion. AMG330 was found to upregulate PD-L1 on primary ALL cells in vitro. As a result, when paired with PD-1/PD-L1 blocking therapy, AMG 330-mediated tumor cell lysis was dramatically increased (36, 37).

A bifunctional PD-1 × CD3 × CD33 immune checkpoint inhibitory T-cell engaging (CiTE) antibody simultaneously targeting PD-1, CD3 and CD33 has shown high therapeutic effect with complete AML (Acute Myelocytic Leukemia) eradication in preclinical experiments (38). Many clinical trials are ongoing with combination therapy of bispecific T cell-engaging antibodies and PD-1/PD-L1 axis inhibitors. The administration period depends largely on the structure of the antibody. The design of bispecific antibody-like Blinatumomab needs to consider the half-life. AMG673 will have an increased half-life of about 21 days in humans after fusing the binding domain of CD33 and CD3 to the N-terminal end of the IgG Fc region. In this way, the cycle time for intravenous infusion can be reduced. However, more attention needs to be paid to adverse effects. The drug AMV564 has a higher affinity for both antigens and possesses a tetravalent anti-CD33 × anti-CD3 tandem diabody (TandAb) structure with two CD3 binding sites and two CD33 binding sites. Whether T cells are overactivated is a concern for AMV564. Compared to AMG330, AMV564 is administered by continuous intravenous infusion at 14-day intervals. Preclinical studies in vitro and in vivo have demonstrated the ability of AMV564 to induce effective cytotoxicity to CD33+ AML cell lines in a dose-dependent manner.

CRS is the main toxic reaction in patients treated with CD33-targeted bispecific antibodies. Still, differences in the frequency and severity of CRS may depend on the leukemic load, the effector target ratio at baseline, the specific bispecific antibody structure, and its affinity for CD3.

More bispecific antibody for AML is undergoing clinical trials, such as CD123 × CD3 DuoBody (NCT02715011) and CD123 × CD3 DART (NCT02152956), and preclinical evaluation for adult patients, such as targeting CLL-1 and CD47. Target selection and efficacy assessment must be more cautious when treating AML in pediatric patients. More than 30% of AML pediatric patients have a highly tumor-specific target called MSLN. Recently, BsAbs targeting the MSLN and CD3 proximal area epitopes have increased lifetimes by increasing T cell activation and decreasing the tumor’s bone marrow AML cell load in MSLN-positive mice (39).

3.1.2 BiTEs in solid malignancies

Bispecific T cell engagers (BiTEs) have revolutionized success in hematological malignancies treatment and revitalized the field of solid tumor immunotherapy with promising outcomes from preclinical and clinical trials. Even if the checkpoint inhibitors hold the majority of approvals in recent years in various solid tumor types, the T cell redirection and recruitment approaches are extremely promising. Contrarily, the solid tumor microenvironment has incredibly complex features that affect the infiltration, activity, and persistence of immune effector cells vital to anti-tumor immunotherapy (3, 11) (Figure 1A).

Catumaxomab (Removab) was the first bispecific T cell engagers (TCE) approved by the European medicines agency (EMA) for malignant ascites clinical intraperitoneal treatment in 2009 (40, 41). It is the intact trifunctional mouse/rat chimeric bispecific IgG antibody, with one arm from mouse IgG2a half-antibody identifying epithelial cell adhesion molecule (anti-EpCAM) on tumoral cells and another arm from rat IgG2b targeting CD3 subunit (anti-CD3) on T-cells. Additionally, the functional Fc fragment binds to different immune accessory cells with Fcγ receptors (FcγR), such as natural killer (NK) cells, dendritic cells (DC), monocytes, and macrophages resulting in T-cell-mediated lysis, ADCC, and accessory cells mediating phagocytosis (42). It employs humoral immunity, on the one hand, activates cellular immunity on the other, and delivers co-activation signals via attachable immune cells to eliminate truculent tumor cells, as well as allowing the body’s immune system to generate a specific immune memory, which acts as a cancer vaccine and inhibits tumor metastasis and recurrence. Catumaxomab’s effectiveness has been proven in key phase I/III research and other phase I/II studies (40).

However, intravenous applications of Catumaxomab were connected with severe adverse events like cytokine release syndrome (CRS) and dose-dependent liver toxicity (43), attributing to the off-target activity of other immune cells with FcγRs expressing, and it was withdrawn in 2017 from the market for some commercial reasons (44). The efficacy, safety, and tolerability of Catumaxomab are currently being studied in clinical trials for various indications involving patients with non-muscle invasive bladder cancer (NMIBC) and advanced or recurrent gastric carcinoma with peritoneal metastasis (NCT04819399; NCT04222114) (45).

Driven by the clinical success of Blinatumomab, various T cell-engaging BsAbs targeting solid tumors have been explored and evaluated in preclinical mouse xenograft tumor models and clinical trials. Various antigen being investigated for CD3 TCE bsAbs such as CEA, HER2, prostate-specific membrane antigen (PSMA), GlycoproteinA33 (gpA33), and Glypican 3 (GPC3), etc. (46–49). On-target off-tumor toxicity, a restricted number of effector cells in the tumor microenvironment (TME), and decreased T cell activation in tumors are all problems with CD3 bispecific antibodies in solid tumors. Anti-bispecific antibody designs and techniques for numerous challenges are also available. As a result, several novel formats of TCEs and prodrugs have been investigated for improved efficacy, such as a TCE with a monovalent CD3 binding region and a multivalent TAA binding region, which has been shown to effectively transform a poorly infiltrated tumor microenvironment (TME) into a highly inflamed TME with increased infiltration frequency of activated T cells. Besides, these new multivalent TAA binding regions enable avoiding on-target/off-tumor toxicities after being altered into low-affinity TAA binding domains since most TAAs are also generally expressed at low levels in normal tissue cells (50, 51).

Dionysos Slaga and colleagues have demonstrated a proof of concept. They have generated an anti-HER2/CD3 TCE BsAbs which can target HER2-overexpressing tumor tissue cells with selectivity and high potency while very low binding to normal tissue cells with low amounts of HER2 expressing, thus circumvents the risk of adverse effects to a certain extent (52). Current prodrugs utilize the characteristics of tumor microenvironment such as lower pH, oxygen levels, and proteolytic enzyme levels, allowing for tumor-specific activation of BsAb that are inactive in the circulation or normal tissue thus avoiding attack normal cells. Furthermore, the most fundamental strategy to avoid on-target/off-tumor toxicity is to choose targets only expressed in solid tumors. Immune-mobilizing monoclonal TCRs against cancer (ImmTAC) is a remarkable TCE bsAb format that targets MHC-presented intracellular neoantigen peptides on the surface of tumoral cells (53). This engineered antibody format consisted of an anti-CD3 scFv and TCR peptides with enhanced affinity, enabling to recruit and selectively activate a majority of polyclonal effector T cells to infiltrate to reverse the “cold” TME into an inflammatory TME and lysis cancer cells with low surface oncoprotein epitope densities in the context of HLA-A*0201 subsequently, which demonstrates significant anti-tumor efficacy (54). Tebentafusp (IMCgp100), an ImmTAC molecule, for example, targets melanocyte differentiation antigen polypeptide glycoprotein100 (gp100), showing clinical activity in Metastatic Uveal Melanoma with low tumor mutational burden. Tebentafusp outperformed a single-agent treatment of ipilimumab, pembrolizumab, or dacarbazine in an open-label phase 3 trial for extending overall survival in newly diagnosed patients with metastatic uveal melanoma (NCT03070392) (55).

Whether changing the valence of antibodies, bispecific antibodies in the form of prodrugs, or finding new targets can only solve the problem of on-target off-tumor, T cell infiltration and activity in solid tumors can mostly only be changed by the mode of administration or combination therapy. TAA-based targeting may underestimate the use of CD3 bispecific antibodies in solid tumors. A bispecific antibody against both PD-L1 and CD3 successfully connected T cells to PD-L1-expressing tumor cells, improved T cell cytotoxicity against multiple NSCLC-derived cell lines by releasing granzyme B and cytokines, and decreased tumor growth in mice (56). However, a more potent mechanism of action may exist for the PD-L1 × CD3 bispecific antibody, which was found to target dendritic cells rather than tumor cells in multiple homozygous tumor mouse models. Bispecific antibodies redirecting T cells to APCs by enhancing B7/CD28 co-stimulation to activate T cells may represent a general means of T-cell rejuvenation for durable cancer immunotherapy. PD-L1 × CD3 treatment is undoubtedly dual-acting by simultaneously blocking negative signaling (PD-L1) and engaging positive signaling (CD3). More targeting approaches are now conceivable with the identification of immune checkpoints, and more mechanisms of action are being examined (57).

Any single technique for treating solid tumors will either limit tumor growth or temporarily remove the tumor. A combination of multiple techniques is required to achieve the optimal treatment result. More target combinations and antibody screening modalities are being developed for solid tumors. Using Patient-derived organoids (PDOs), bispecific antibodies can be screened on a large scale, and their efficacy can be evaluated more reliably than in cell experiments.

3.2 BsAbs recruiting Natural Killer (NK) cells for tumor redirection

NK cells, derived from multipotent hematopoietic stem cells, were identified in 1975 and have been considered the first line of defense against tumor cells with the robust anti-tumor ability (58, 59). With MHC-independent cytotoxicity, cytokine synthesis, and immunological memory, NK cells have a unique anti-tumor function, making them crucial participants in the innate and adaptive immune response system. These cells are conventionally divided into two subtypes, CD56dim CD16+ NK, and CD56bright CD16– NK cells. The former possesses powerful cytotoxicity and constitutes most of the peripheral blood and spleen subpopulation. At the same time, the latter is mainly equipped with immunomodulatory characteristics and constitutes a major subtype in lymph node tissues with weak cytotoxicity and maturity.

Diverse inhibitory and activating receptors are expressed on the surface of NK cells, determining the outcome of NK-cell activation by mediating the balance between those signals, which is pivotal for distinguishing and eliminating aberrant from normal cells through cytotoxic granules secretion based on TRAIL receptors and FAS ligand (FasL) expression as well as the release of other cytokines, growth factors, and chemokines. Inhibitory receptors on the surface of NK cells can recognize and bind to MHC Class I (MHC-I) molecules to alleviate autoimmune reactions. In contrast, the down-regulated expression of the MHC-I molecule can induce NK cell-mediated killing under cellular stress conditions, known as “missing self-recognition”. During tumorigenesis, the expression of MHC-I molecules is generally lost or in a defective condition for escaping from immune surveillance. Still, the unique characteristic of NK cells plays a necessary role in bypassing downregulated presentation of tumor neoantigens and effectively eliminating early aberrant cells (58).

A high frequency of NK-cell infiltration is usually connected with a better prognosis. However, Clara Degos and colleagues found an impoverished NK cell infiltration in the tumor microenvironment. IFN-γ secretion and cytotoxicity of Tumor-infiltrated NK cells are impaired, with significantly attenuated tumor-killing ability (60). Bispecific killer cell engager (BiKE) is a promising strategy to engage NK cells to tumor cells; Fc receptor (FcγRIII, CD16A)-mediated recruitment as a function of bsAb can be achieved by binding of CD16 on the surface of NK cells to the Fc region of bsAb, or by one end of a bi-specific antibody targeting CD16A (CD16A antibody). By inducing ADCC, the activating NK cell receptor CD16A (FcγRIIIA), which is mostly expressed on mature NK cells, might facilitate the destruction of tumor cells (61).

Both the composition and form of the BiKE affect the effectiveness of ADCC induction. The design of BiKE for Fc-mediated NK cell recruitment faces the challenge that the chosen form needs to ensure the effective binding of the Fc structural domain to CD16. Same as the Fc-mediated ADCC antibodies, the ADCC efficiency of BiKE, which recruits NK cells through partial regional CD16 antibody, is also similarly dependent on the choice of antibody’s form. ADCC-induced binding of the tumor-associated antigen (TAA) CD30 and CD16A is superior to monovalent CD30/CD16A binding in the dual CD16A-bound TandAb (tandem diabody) form than in the diabody form (62).

The AFM13 (ROCK®), a tetravalent bispecific anti-CD30 × anti-CD16A TandAb targeting CD30+ malignancies like Hodgkin lymphoma, has shown efficacy and cytotoxicity in an early clinical trial (NCT01221571) (63). Besides, in a phase 1b study aiming to evaluate the curative effect of AFM13 in combination with pembrolizumab to investigate further a rational treatment modality in patients with relapsed/refractory Hodgkin lymphoma (R/R HL), the objective response rate reached 88% at the highest treatment dose. The overall response rate is 83% for recipients with an acceptable safety profile and tolerability (64). Furthermore, AFM13 has reached a phase II clinical study to improve therapeutic efficacy by optimizing the dosing schedule (63). The AFM24, a different CD16A-based IgG1-scFv fusion BsAb that targets EGFR-expressing tumor cells with varying EGFR expression levels and KRAS/BRAF mutational status, has also demonstrated a strong potential for therapeutic application investigation and is now being studied in clinical trials (NCT04259450) (65).

Apart from targeting CD16A, a small number of studies have targeted activation receptors on NK cells, such as NKG2D, NKp30, and NKp46. A study constructed a homodimeric recombinant antibody combining two NKG2D-binding and two ErbB2 (HER2)-specific single-chain fragment variable (scFv) domains, linked by an IgG4 Fc region in a single tetravalent molecule, known as NKAB-ErbB2 (66).

The NKAB-ErbB2 increased lysis of ErbB2-positive breast carcinoma cells by peripheral blood-derived NK cells endogenously expressing NKG2D. NKG2D is unlike the other targets because mAb-mediated cross-linking does not result in cytokine release. In contrast, stimulation with soluble recombinant NKG2D ligands (MICA, ULBP-1, or ULBP-2) induces the expression of IFN-γ, GM-CSF and MIP-1β. A novel dual-targeting antibody composed of antibody cG7 and MICA was named cG7-MICA. The cG7 part is a natural antibody targeting CD24, and MICA is attached to the antibody behind CH3 via a G4S linker. When cG7-MICA coupled to CD24 on tumor cells, inducing NK cell-mediated cytotoxicity, HCC cells were identified by NK cells via MICA. As the Fc binds to its receptors on the surface of NK cells and macrophages, ADCC, CDC effects, and a longer half-life following engagement with neonatal receptors are all triggered (67). But shedding or downregulation of NKG2D ligands (NKG2DL) can prevent NKG2D activation, resulting in the escape of cancer cells from NKG2D-dependent immune surveillance.

There has been particularly little research into bispecific antibodies targeting NKp30 and NKp46 (68). CTX8573 is the first NKp30 × BCMA bispecific antibody that targets BCMA+ plasma cells and NK cells (69). The C-terminus of the antibody is attached to the anti-NKp30 Fab, and the mismatch is resolved using the same light chain. The Fc-terminus is given a de-fucose treatment to increase the impact on NK cells further. Intrinsic cells are effectively attracted to and activated by the binding of NKp30 and CD16A. Compared to monoclonal antibodies targeting CD16A, the ADCC potency is increased by more than 100 times using the NKp30 bispecific platform, which also maintains activity when CD16A is downregulated. Bispecific antibodies against NK redirection are still mainly used to treat hematological tumors. It is also unclear whether NK cells will enter solid tumors more readily than T cells for solid tumors. NK cells can produce relevant cytokines to attract other immune cells, which may further enhance the anti-tumor response. There is no doubt that strategies to increase the involvement of NK cells in anti-tumor response will be the future of tumor immunotherapy.

3.3 Bispecific antibody targeting immune checkpoint and co-stimulator for immune cell restoration

3.3.1 Immune checkpoint

Clinical cancer therapy approaches have undergone a revolutionary change due to recent discoveries on the roles of immune checkpoints in allowing cancers to avoid the innate/adapted immune system (70, 71). Immune checkpoint receptors of co-inhibitory molecules such as programmed cell death 1 (PD-1) and/or cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) are critical in maintaining self-tolerance and avoiding immune-mediated adverse effects on the host. However, numerous studies have shown that the (TILs) exhibit substantially elevated co-inhibitory receptors, which represent an exhausted phenotype and limited anti-tumor action (72). In addition, preclinical evidence suggests that T cell response has been inhabited on account of the upregulated expression level of programmed cell death 1 ligand 1 (PD-L1) on the surface of malignant cells to conducive tumor cell’s immune escape and limit the efficacy of anti-tumor immunotherapies (73). Immune checkpoint blockades (ICBs) have been established based on the mechanism mentioned above to break those negative regulators that prevent pre-existing anti-tumor immune responses from being activated. Some ICBs have shown notable efficacy in various cancers and have entered routine clinical implementation (74). Besides, A clinical trial reported the 5-year outcomes that nivolumab (anti-PD-1) combined with ipilimumab (anti-CTLA-4) among advanced melanoma patients has resulted in sustained long-term progression-free and overall survival (52%) compared with nivolumab group (44%) and ipilimumab group (26%) (75).

The therapeutic idea of blocking two inhibitory immune checkpoints has led to the rational design and development of bispecific antibodies that simultaneously target two inhibitory checkpoints expressed on the surface of the same or different cells. This has been made possible by the innovative success of ICBs immunotherapies and the improved clinical benefit rate observed in patients who have received combined treatment with ICBs. MGD019 is a monovalent investigational PD-1 × CTLA-4 bispecific DART compound designed to increase CTLA-4 checkpoint blockage in the TME based on a PD-1 binding mechanism. This single-molecule showed complete blockade of the PD-1/PD-L1 axis and Variable Inhibition of CTLA-4 in vitro and is well tolerated in non-human primates with increased T cell proliferation and expansion. Furthermore, the first-in-human study with MGD019 is ongoing in patients with multiple advanced solid tumors. After the dose-escalation phase, the analysis revealed acceptable safety and objective responses in various tumor types typically unresponsive to checkpoint inhibitor therapy (NCT03761017) (76). MEDI5752, fusing an anti–PD-1 mAb and the variable binding domains of Tremelimumab (anti-CTLA4) onto a DuetMab backbone, optimally designed with triple amino acid mutations of the human IgG1 constant heavy chain to reduce Fc-mediated immune effector functions. Dovedi, S.J. et al. discovered that this engineered molecule preferentially localizes and inhibits CTLA4 on PD-1+ T cells and rapidly induces internalization and degradation of PD-1.

As a result, the affinity for the CTLA4 receptor is markedly increased and saturated, increasing clinical benefit and minimizing further harm. In addition, current first-in-human research using MEDI5752 to treat advanced solid cancers showed promising partial responses with acceptable side effects (77). Different from MEDI5752, AK104 is an anti-PD-1/CTLA-4 bispecific antibody with the symmetrical structure of 4-valent IgG1-scfv developed by Akeso Biology. AK104 can rapidly mediate independent endocytosis of PD-1 or CTLA-4 based on good antigenic differentiated binding with high retention in tumor tissue. Recently, Cadonilimab (AK104) has been approved in China for treating patients with recurrent or metastatic cervical cancer who have failed prior platinum-containing chemotherapy.

Nowadays, most of these BsAbs target the next wave of inhibitory receptors expressed on TILs with one binding arm and block the PD-1/PD-L1 axis with the other binding arm to reverse acquired T cell exhaustion-driven resistance. Dual immunomodulator MGD013 targets LAG-3 and PD-1. Both target molecules are expressed on T cells following antigen stimulation. Based on the DART® form, MGD013 has been shown to effectively inhibit the binding of PD-1 to PD-L1 and PD-L2 while inhibiting the binding of LAG-3 and MHC II, which activate T cells by acting together. This bispecific antibody is in clinical phase I studies (NCT03219268). Similar preclinical dual immunomodulators include FS118 targeting PD-L1/LAG-3 and LY3415244 targeting PD-L1/TIM-3 (78, 79).

3.3.2 Co-stimulatory molecules

Co-stimulation assists the immune system in determining whether responses to antigenic stimuli and co-stimulatory receptors have been utilized for cancer immunotherapy. The targets of immune co-stimulation mainly focus on the B7-CD28 and TNFR family. In the B7-CD28 family, CD28 and ICOS are the main co-stimulatory receptors. OX40, CD40, CD27, 4-1BB, GITR, and CD30 belong to the TNFR family. CD28, one of the first identified co-stimulatory molecules constructively expressed on the surface of T cells, contributes to lowering the threshold, which is critical for TCR-mediated T cell activation and subsequently results in enhanced T cell proliferation, cytokine production, and release, as well as cell survival (80). Six healthy volunteers who participated in the first human clinical trial for TeGenero’s CD28 hyperagonist antibody TGN1412 had severe cytokine release syndrome and multiple organ failure. Because antibodies activate T cells even when the TCR is not involved, they create an immunological response that targets everyone.

Other co-stimulatory receptors are promising targets, transiently expressed on activated T cells via TCR-mediated signal identification rather than constituent expression like CD28. The affinity of agonistic antibodies for their targets must be optimized, not maximized. It is not the affinity but the intermittent exposure of co-stimulatory receptors that may become more crucial. Excitatory antibodies, though, are still in their infancy compared to immune checkpoint inhibitors. Utilizing excitatory antibodies alone might not be the best course of action. Co-stimulatory receptors play a unique role, and PD-1 therapeutic effectiveness depends on the CD28/B7 co-stimulatory pathway. PD-1 is widely believed to inhibit signal transduction through T-cell receptors (TCR). The study indicated that TCR co-stimulatory receptor CD28 is the primary target of PD-1 signal transduction (81). Lung cancer patients who responded to PD-1 therapy had more CD28+T cells, suggesting that CD28 may predict treatment response. Toxicity can be largely avoided by combining CD28 antibodies with another target.

TSA × CD28 bispecific antibodies have shown little or no toxicity in humanized immune system mice or primate models when used alone or combined with PD-1 antibodies (82). As a result, it might offer a safe “off-the-shelf” combination immunotherapy that could greatly improve anti-tumor effectiveness and trigger long-lasting anti-tumor immunity. Preclinical research on CD28 triple antibodies has recently demonstrated considerable promise, and this therapy is now widely recognized in theory. Sanofi created an anti-HER2, anti-CD3, and anti-CD28 tri-specific antibody to target, stimulate, and prolong the lifespan of T cells in malignancies (83).

The dissociation constants for HER2, CD28, and CD3 are 1.28, 1.0, and 1.43 nM, respectively. Each antigen arm shows a comparable affinity to the analogous single antigen arm in the presence of the other two antigens, demonstrating minimal interference between the various arms. The tri-specific antibody could promote tumor regression at low doses and achieve effective tumor suppression in both high and low HER2 expressing tumors. It was also found that CD4 cells, but not CD8 cells, were critical in promoting tumor growth arrest. The CD137 (4-1BB) is the most promising target in studies targeting co-stimulatory receptors. To reduce the toxicity of systemic CD137 agonists to the liver while maintaining efficacy, targeting CD137 with a bispecific molecule that binds to the tumor-associated antigen (TAA) and confining CD137+ T cell agonists to the tumor microenvironment appears to be an ideal approach. Targeting non-tumor toxic cytokine release syndrome is decreased by triggering only antigen-exposed T cells (CD137+ T cells). Independent of MHC, CD137 activation can expand tumor-reactive memory T cells. Additionally, CD137-targeted antibodies may be more resilient to antigen loss than CD3-targeted antibodies. Nevertheless, the clinical development of bispecific antibodies has been severely hampered by dose-dependent hepatotoxicity found in clinical studies with co-stimulatory molecules recognizing agonistic antibodies (84–90).

Thus tumor-localized co-stimulatory bispecific antibodies have been developed to alleviate systemic toxicity after systemic effector T cell co-stimulation. PRS-343, engaging 4-1BB-specific Anticalin proteins to a modified variant of trastuzumab with a mutation modified IgG4 isotype to avoid the risk of ADCC and non–tumor-target activation of 4-1BB-positive lymphocytes, facilitates HER2+ tumor-localized co-stimulation of T cells with reduced peripheral toxicity (84). In addition, PRS-344/S095012, a synthesized tetravalent PD-L1/4-1BB bispecific antibody, showed stronger antitumoral activity and synergistic impact compared to the combination of mAbs via a tumor-localized 4-1BB-mediated activation (91). Preclinical models reflect that PRS-344/S095012-mediated 4-1BB activation depends on PD-L1, reducing the risk of peripheral toxicity and that 4-1BB co-stimulation occurs only in synchrony with TCR signaling, limiting its activity to antigen-specific T cells. Furthermore, DuoBody-PD-L1×4-1BB (GEN1046), the first-in-class bispecific immunotherapy agent, formed by the K409R and F405L mutations in the Fc CH3 region of two IgG1 antibodies and demonstrated pharmacodynamic immune effects and a manageable safety profile in a phase I trial of dose escalation in heavily pre-treated patients with multiple advanced refractory solid tumors (NCT03917381) (92).

In addition to bispecific antibodies, research for the CD28 and the 4-1BB target has been extended to triple and quadruple antibodies. However, the market for numerous distinct cancer antibody therapeutics is still in its infancy, and much research on its effectiveness and safety is still needed. Hepatotoxicity is being studied in the next generation of co-stimulation-targeted bispecific antibodies without compromising efficacy.

4 Bispecific antibody targeting non-immune cells in the TME for restricting tumor diffusion

The tumor microenvironment mainly consists of tumor cells and their surrounding immune and inflammatory cells, cancer-associated fibroblasts (CAFs), nearby mesenchymal tissue, microvasculature, and various cytokines and chemokines (Figure 2). It can be roughly divided into immune microenvironment based on immune cells and non-immune microenvironment. Angiogenesis, the process by which new blood vessels emerge from an already-existing vascular network, is crucial to tumor growth, progression, and metastasis (93). During the process, low oxygen tension (hypoxia) is a significantly important component of the TME driving tumor angiogenesis, which could upregulate multifarious proangiogenic growth factors like VEGF, placenta growth factor (PlGF), and angiopoietin 2 (Ang2) that correlate with the formation of new vessels through directly engaging in vessel growth (94, 95). VEGF family (VEGF-F) and Ang1-2/Tie-2 pathway are equally important in mediating tumor angiogenesis, and Ang-2 regulates vessel maturation in the later stage of angiogenesis, which contributes to promoting vascular formation with VEGF in the different stages. Upregulated levels of VEGF and Ang-2 demonstrated a worse prognosis factor in various tumor types (96), the blocking of the signaling pathway Ang-2 shows the effect of tumor growth inhibition with the decreased vascular formation. It normalizes remaining blood vessels with increased pericyte coverage (97–99). Furthermore, the above blocking pathways have more significant effects when combined with anti-VEGFA drugs, even in certain tumor types with resistance (100–102).

Figure 2
www.frontiersin.orgFIGURE 2 Bispecific antibodies exert anti-tumor effects in the immunosuppressive tumor microenvironment. In the complex tumor microenvironment, activated fibroblasts communicate with tumor cells, various inflammatory cells as well as stroma cells via secreting growth factors (TGFβ, VEGF, etc.) and other chemokines to provide potentially oncogenic signals and interact with the microvasculature, which induces an accelerated oncogenic extracellular-matrix microenvironment. BsAbs, aiming at blocking the interacting mechanism, transform the “cold” immune environment into the “hot” immune environment.

In addition to showing strong anti-tumor, antiangiogenic, and micrometastasis growth reducing effects in subcutaneous and orthotopic syngeneic mouse xenotransplantations, Ang-2-VEGF CrossMab also exhibits these effects in patient or cell line-derived humanized tumor xenografts with acceptable side effects compared to Ang-1 inhibition combined with anti-VEGF treatment on physiologic vessel growth (103). Furthermore, Kloepper, Riedemann et al. found that dual Ang-2/VEGF (CrossMab, A2V) antibody can prolong the survival of mice bearing orthotopic syngeneic (Gl261) GBMs or human (MGG8) GBM xenografts based on only VEGF pathway blocking failing to enhance overall survival of patients with GBM (104). The logical combination therapy of immune checkpoints and angiogenesis provides greater therapeutic effects, according to Schmittnaegel et al. On the other hand, increased intratumoral immune effector cell activation results in increased PD-L1 expression in tumoral endothelial cells (105).

The PD-L1 blockade could prolong the angiostatic effects of angiogenic factors receptor inhibition, enhancing vascular normalization to a certain extent. However, lacking tumor-infiltrating lymphocytes is related to primary resistance to ICIs. At the same time, dysfunctional tumor vasculature restricts lymphocyte T cell permeating into tumors, thus limiting the curative effect of immune-checkpoint blockade. Therefore, rational dual therapy modalities of anti-angiogenesis and immune checkpoint blocking like PD-1/PD-L1 signal pathways have broad clinical applicability (91, 105). The HB0025, with dual recognition of VEGFR and PD-L1 based on mAb-Trap technology, has shown enhanced anti-tumor benefits than either single drug treatment (106).

In addition to VEGF, the Notch pathway’s essential ligand delta-like ligand 4 (DLL4) plays a key role in tumor neo-angiogenesis and regulates the VEGF pathway’s signaling to prevent excessive vascularization (107). Due to severe target toxicities (such as hepatotoxicity and pulmonary hypertension) seen in the clinic, the DLL4 monoclonal antibody’s development has been stopped. The research strategy then shifted to bispecific antibodies for VEGF and DLL4. Navicixizumab (OMP-305B83), an IgG2 humanized BsAb, targets DLL4 and VEGF simultaneously. The data from the phase 1a study showed manageable toxicities and anti-tumor activity in various tumor types, which encouraged an ongoing phase 1b clinical trial to further assess the curative effect in pre-treated ovarian cancer patients with platinum resistance (NCT03030287) (108). Besides, ABL001 (VEGF × DLL4), with enhanced biological anti-tumor activity in xenograft models than VEGF or DLL4 monoclonal therapeutic antibodies alone, is under phase 1 clinical study to evaluate combination therapy effect with heavy chemotherapy (NCT03292783) (92).

Cancer-associated fibroblasts (CAFs), ranking in the stromal cell population, which compose of diverse subpopulations with distinct functions in cancer, represent the most considerable component of the tumor microenvironment (TME) (109). Abundant studies have confirmed that CAF populations could exert different but mutual functions modulating tumor growth, proliferation, tumor metastatic dissemination, and extracellular matrix components remodeling, simultaneously correlated to immunosuppression TME establishment and chemoradiotherapy resistance (109–113). Recently, an in-depth study on the crucial role that CAFs play in the tumor immune microenvironment’s (TIME) pro-oncogenic functions has been done, showing CAFs as a promising therapeutic target (114). Fibroblast Activation Protein (FAP), a marker expressed on the surface of CAFs and detected in various cancer types of poor prognosis, has appeared as a novel strategy for targeted immunotherapies. Bispecific FAP-targeted 4-1BB ligand (RG7826), correctly assembled through CH1-CL domain crossover, knob into hole (KIH) amino acid mutation in the fragment crystallizable (Fc) domain, as well as mutations in CH1 (EE) and CL (RK) (12, 115), led to intensive IFN-γ and granzyme B secretion in human tumor samples while combined with tumor antigen-targeted (CEA) T cell bispecific (TCB) molecules (89, 116). A new FAP-DR5 (death receptor 5) tetravalent bispecific antibody called RG7386 aims to activate extrinsic DR5. In preclinical patient-derived xenograft models, hyperclustering dependent on the tumor cells’ apoptotic pathway and binding to FAP-positive stroma led to durable tumor reduction, which is currently being assessed in phase-I clinical research (117, 118).

5 Bispecific antibody changing TGF-β signal pathway to improve the tumor microenvironment

Transforming growth factor (TGF)-β is a multifunctional cytokine that plays a dual role, tumor suppressor or promoter, in a cellular or context-dependent manner, known as the TGF-β “paradox”. In early-stage tumors, the TGF-β pathway induces apoptosis and inhibits tumor cell proliferation. In contrast, it has a tumor-promoting role in advanced stages by regulating genomic instability, epithelial-mesenchymal transition (EMT), neoangiogenesis, immune evasion, and cell metastasis (Figure 2). Previous research suggests that response rates to TGF-β monoclonal antibody therapy are low, which could be related to the fact that it is not a tumor promoter. As a result, one of the primary avenues of advancement in this sector has been combination therapies, which include combinations with ICIs (e.g., PD-1/PD-L1 antibodies), cytotoxic drugs, radiotherapy, cancer vaccines, and so on.

The discovery that TGF-β antibody induces potent anti-tumor immunity when combined with PD-L1 antibodies was made in a study of patients with uroepithelial carcinoma who metastasized after receiving PD-L1 antibodies (119). In this study, CD8+ T cells were found in the patients’ tumor interstitium containing fibroblasts and collagen but not in the tumor interior, TGF-β signal limits T cell infiltration. At the same time, some researchers fused TGF-β receptor II and PD-L1 antibodies into a tetravalent BsAb, M7824, and found that the bispecific antibody had better anti-tumor effects than the monotherapies in homozygous mouse models of breast and colon carcinoma. The Phase I clinical study (NCT03917381) of M7824 patients with non-small cell lung cancer (NSCLC) evaluated its efficacy and safety. The median follow-up was 51.9 weeks, with an objective remission rate (ORR) of 21.3%, partial remission (PR) of 21.3%, stable disease (SD) of 16.3%, and disease progression (PD) of 48.8% for all patients; disease control rate (DCR) of 40%; overall survival (OS) of 13.6 months; median progression-free survival (PFS) of 2.6 months; The 12-month PFS rate was 20.1%; median duration of remission (DOR) was 14.1 months. A dose of 1200 mg was determined to be the recommended dose for the Phase II study. But German Merck and collaborator Glaxo finally announced that a Phase III (INTR@PID Lung 037) interim analysis of bintrafusp alfa (M7824) showed that it could not outperform PD-1 antibody Keytruda. Bintrafusp alfa was then stopped as a single-agent second-line treatment for locally progressed or metastatic biliary tract carcinoma (BTC) in Phase II INTR@PID BTC 047 due to failure to reach the primary endpoint. Bintrafusp alfa has failed four clinical trials in a row since 2021. M7824 is also being tested in various indications, including esophageal, biliary tract, and gastric cancers. With the discovery that transforming growth factor-β (TGF-β) inhibits T helper cell (Th2)-mediated cancer immunity, researchers constructed a bispecific antibody targeting CD4 and TGF-β, 4T-Trap, which selectively inhibits TGF-β signaling by CD4+ T cells in lymph nodes (120, 121), leading to cancer cell apoptosis and vascular rearrangement. Due to TGF-β multifunctionality and the potential for major side effects from the total blockade, inhibition of TGF-β in cancer therapy has not been successful. However, 4T-Trap focuses TGF-β blocking compounds directly on CD4+ T cells to minimize adverse effects. And combining 4T-Trap with a VEGF inhibitor may help to prevent the spread of vascular-mediated malignancy.

Due to the diversity of TGF-β signaling, combinations are likely to be effective only when TGF-β is the tumor-promoting signal. The efficacy of anti-TGF-β must be carefully analyzed when TGF-β exerts tumor-suppressive effects or when the receptor for TGF-β is mutated. In addition, the combination of drugs may cause a strong immune response in patients; whether the patient can tolerate it and the deepening of side effects is also a question worthy of consideration. A deeper understanding of the communication and interactions between the various components of the tumor patient’s organism and TGF-β signaling is key to improving clinical efficacy.

6 Approaches to avoid on-target off-tumor adverse effects

A reinvigorated anti-tumor immunity can be a double-edged weapon while many programs explore alternative modes of action correlated with bispecific antibodies’ target pathways. The efficacy of genetically modified bispecific antibodies against cancer has increased greatly at the expense of improved toxicities in normal tissues and systemic cytokine release immune responses (122, 123). Strategies of conditionally activating T cells within tumors and modifying target affinities to mitigate or conquer the “on-target off-tumor” adverse effect of bispecific antibodies have been taken into consideration and investigation (52, 124–126).

To avoid T cell autoreactivity to normal target-expressing tissues while there is generally lacking tumor-specific targets in solid tumors, Slaga, D., and colleagues have designed and exploited a T cell-dependent bispecific (TDB) antibody with a bivalent low-affinity HER2 recognition binding domain which can selectively target HER2-overexpressing tumor cells from normal human tissues with low amounts of HER2 expressing (52). Besides, antibody binding affinity is a major factor for overall tolerability, while the higher affinity for CD3 is related to rapidly increasing peripheral cytokine concentrations. While having no impact on anti-tumor effectiveness, anti-HER2/CD3 TDBs with lower CD3 binding affinity is better tolerated in vivo. Higher HER2 affinity aids in tumor-killing action but also causes more severe toxicity, including cytokine release syndrome, in HER2-expressing tissues. a dose-fractionation technique, which offers an application strategy for the affinities-modulated antibodies, has been used to address such a problem (124).

Disorganized tumor tissue growth and rapid cell division contribute to complicated extracellular features of the TME, such as a hypoxia environment with low pH, increased extracellular matrix remodeling, and upregulated proteolysis, which has contributed to the exploration of conditionally activating T cells in the TME based on the preferentially binding of BsAbs at hypoxic extracellular conditions as well as local liberation of the BsAbs antigen-binding sites released by tumor-associated proteases (126–135). Preclinical research has shown that T cell recruiting BsAbs (TCBs) conditionally activated by intratumorally proteolytic cleavage can prolong therapeutic windows, successfully avoid dose-limiting toxicities, and significantly prolong tumor regression (131–133). Furthermore, Geiger, M. and colleagues have generated a protease cleavable activated anti-folate receptor 1 TCB (Prot-FOLR1-TCB) via masking the anti-CD3 binding domain with an anti-idiotypic anti-CD3 scFv N-terminally connected to the anti-CD3 variable heavy chain through a protease cleavable linker, which has shown validly releasing of the anti-CD3 binding moiety in active proteases enriched tumor microenvironment, thus effectively reducing potential on-target toxicity through sparing normal tissues with low degrees FOLR1 expression while mediating efficient anti-tumor ability in FOLR1-positive tumor tissue (126). Besides, binding sites of the BsAb assembling intratumorally from two half-molecules is an ideal approach to further increasing tumor selectivity (125, 136).

7 Conclusion and prospect

As a result of the FDA’s approval of Blinatumomab for the treatment of recurrent ALL and the ongoing need for BsAbs, novel formats aimed at enhancing therapeutic efficacy and safety have been developing for the treatment of solid tumors as well as hematologic malignancies. BsAbs have gained momentum over the past decade. Despite promising progress in the clinical application field of bispecific immunomodulatory antibodies in part of human tumor types, more prominent anti-tumor efficacy in most solid tumors still needs constant exploration. Furthermore, dozens of BsAbs with different targets combinations have exhibited potent anti-tumor effect in preclinical studies, but most of the positive preclinical outcomes could not be further validated in the clinic. With increasingly diverse BsAbs entering preclinical and clinical trials, various challenges have emerged hampering the development of BsAbs. The development of BsAbs is dimensionally more difficult than that of a monoclonal antibody. Selecting the optimal targets combination is only the first step, followed by the right choosing of a rational format and designing the molecule according to the targets as well as the biology of the diseases. Besides, inappropriate clinical design and administration regimens will expose patients into significantly higher toxicities, which can be avoided via optimization of treatment strategies, dosage, timing, and sequence to some extent. We anticipate that more comprehensive exploration in the field of bispecific immunomodulatory antibodies will broaden the prospect of cancer immunotherapy.

Author contributions

All authors listed have made a substantial, direct, and intellectual contribution to the work, and approved it for publication.

Funding

This work was supported by 1.3.5 Project for Disciplines of Excellence, West China Hospital, Sichuan University (Grant No. ZYJC21043), the National Natural Science Foundation of China (31971390), and Sichuan Science and Technology Program (2021YFH0142).

Conflict of interest

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of insterest.

Publisher’s note

All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article, or claim that may be made by its manufacturer, is not guaranteed or endorsed by the publisher.

RAbD is a new biotechnology company founded by Fox  Chase Cancer Center investigators Gregory Adams, Ph.D., Matthew Robinson, Ph.D. and Roland Dunbrack, Ph.D. that is focused on the knowledge-based design of antibodies that bind to key functional, often highly conserved and difficult to target epitopes. We are using homology modeling, crystal structures, protein docking and design software and algorithms to drive combinatorial sampling of CDRs to computationally design new antibodies and then express, validate and perform further design in an iterative manner.Brian Smith, Ph.D., MBA is RAbD Biotech’s Business Development Lead.

Contact information for RAbD Biotech:

Website  http://rabdbiotech.com/

LinkedIn

Twitter @RAbDBiotech

The overall goal of RAbD is to

“drug the undruggable”

The company using in silico design methods to design to produce novel antibodies and biomimetics. The company is developing a first in class biomimetic, RaD-003, for the treatment of ovarian cancer.  Ovarian  cancer is one of the most deadly of all women’s cancers, with very low 5 year survival rates.  An expected 22,000 US women a year will be diagnosed and expected 16,000 will die every year.  Cisplatin/paclitaxel therapy is only approved and effective chemotherapy for ovarian cancer yet resistance develops quickly and is common. RaD-003  targets the MISII receptor (Mullerian Inhibiting Substance Type II Receptor), which is expressed on ovarian cancer cells but not on normal ovarian epithelium.

It has been shown that activation of this receptor by the Mullerian Inhibiting Substance (MIS) has antitumor activity in ovarian cancer.

The MISII receptor had been considered undruggable as

  • MIS is too expensive and difficult to produce
  • previous attempts to develop therapeutic antibodies ot MISIIR have proven difficult

Therefore, the company used their computational platform to produce a “first in class” chimeric biomimetic to more effectively target and activate MISIIR.

For  more information about this meeting and the Mid-Atlantic Bioangels and 1st Pitch please see posting on this site

Read Full Post »

Hastke Inc. Presents at 1st Pitch Life Sciences-Philadelphia-September 16, 2014

Reporter: Stephen J Williams, PhD

Article ID #150: Hastke Inc. Presents at 1st Pitch Life Sciences-Philadelphia. Published on 9/17/2014

WordCloud Image Produced by Adam Tubman

 

 

Hastke Inc. presented at Mid-Atlantic BioAngels 1st Pitch Life Sciences in  Philadelphia Tuesday Sept. 16, 2014.

Hastke, Inc., a Princeton University spin-out, captures dynamic cellular events IN REAL TIME in live cells at an unprecendented level of detail in 3D using proprietary 3D microscopy in conjunction with nanotechnology-based tags and sensors. The resolution up to 10 nm in all directions and 10 us precision, orders of magnitude superior than other methods, can be achieved.  The company is using this technology to determine extent of uptake of drugs on a cellular level and to visualize drug-receptor interaction.  Their goal is to use their ability to visualize comound-cell interaction and uptake to enhance the drug screening process.

Their company is currently comprised of three team members:

Stephanie Budijono is the President and CEO of Hastke Inc. Prior to Hastke, she developed a nanoparticle platform for targeted cancer therapy and imaging. She received her PhD from Princeton University.

Haw Yang is the leading inventor of the technology. He is a Professor at Princeton University, leading a research lab developing new methods to understand molecular reactivity in complex systems.

Kevin Welsher is a co-invetor of the technology. He is a prolific scientist whose works have been consistently featured in world-leading journals. His previous experience also includes developing new materials for in-vivo fluorescent imaging. He received his PhD from Stanford University.

Read Full Post »

Pfizer Cambridge Collaborative Innovation Events: ‘The Role of Innovation Districts in Metropolitan Areas to Drive the Global an | Basecamp Business.

Reporter: Stephen J. Williams, Ph.D.

Monday, September 8 2014 5:30pm – 7:00pm Other Time Presented by:

Event Details:
Date/Time:
Monday, September 8, 2014, 5:30-7PM EDT
Venue: Pfizer Cambridge Seminar Room (ground floor)
Location: Pfizer Inc., 610 Main Street, Cambridge, MA 02139 . Click here for a map to the location. 
(Corner of Portland and Albany street, Cambridge, MA 02139)
RSVP: To confirm your attendance please RSVP online through this website. This is an ONLINE REGISTRATION-ONLY event (there will not be registration at the door).

The Role of Innovation Districts in Metropolitan Areas to Drive the Global and Local Economy: Cambridge/Boston Case Study

Join Pfizer Cambridge at our new residence for a fascinating evening led by Vise-President and Founding Director, Bruce Katz of Brookings Institution, followed by a networking reception with key partners in our new Cambridge residence; Boston-Cambridge big pharma and biotech, members of the venture capital community, renowned researchers, advocacy groups and Pfizer Cambridge scientists and clinicians.

Boston/Cambridge is one of most prominent biomedical hubs in the world and known for its thriving economy. Recent advances in biomedical innovation and cutting-edge technologies have been a major factor in stimulating growth for the city. The close proximity of big pharma, biotech, academia and venture capital in Boston/Cambridge has particularly been crucial in fostering a culture ripe for such innovation.

Bruce Katz will shed light on the state of the local and global economy and the role innovation districts can play in accelerating therapies to patients. Katz will focus on the success Boston/Cambridge has had thus far in advancing biomedical discoveries as well as offer insights on the city’s future outlook.

The Brookings Institution is a nonprofit public policy organization based in Washington, D.C. Mr. Katz is Founding Director of the Brookings Metropolitan Policy Program, which aims to provide decision makers in the public, corporate, and civic sectors with policy ideas for improving the health and prosperity of cities and metropolitan areas.

Agenda:

5:30-6PM      Registration/Gathering (please arrive by no later than 5:45PM EDT with a
                       government issued ID to allow sufficient time for security check)

6-7PM            Welcoming remarks by Cambridge/Boston Site Head and Group Senior 
                       Vice-President WorldWide R&D, Dr. Jose-Carlos Gutierrez-Ramos

                        Keynote speaker: Bruce Katz, 
                        Founding Director Metropolitan Policy Program
                        Vice-president, The Brookings Institution

7-8PM             Open reception and Networking

8PM                 Event ends

This May, Pfizer Cambridge sites are integrating and relocating our research and development teams into our new local headquarters at 610 Main Street, Cambridge, MA 02139. The unified Cambridge presence represents the opportunity to interlace Pfizer’s R&D capability in the densest biomedical community in the world, to potentially expand our already existing collaborations and to embark on forging possible new connections. These events will further drive our collective mission and passion to deliver new medicines to patients in need. Our distinguished invited guests will include leaders in the Boston-Cambridge venture capital and biotech community, renowned researchers, advocacy groups and Pfizer Cambridge scientists and clinicians.  

Online registration:
If you are experiencing issues with online registration, please contact: Cambridge_site_head@pfizer.com  



Hashtags: #bcnet-PCCIE

Monday, September 8 2014 5:30pm – 7:00pm Other Time

Location: Pfizer Inc.
610 Main St
Cambridge, MA 02139
Contact:
 

Read Full Post »

Extracellular evaluation of intracellular flux in yeast cells

Larry H. Bernstein, MD, FCAP, Reviewer and Curator

Leaders in Pharmaceutical Intelligence

This is the fourth article in a series on metabolomics, which is a major development in -omics, integrating transcriptomics, proteomics,  genomics, metabolic pathways analysis, metabolic and genomic regulatory control using computational mapping.  In the previous two part presentation, flux analysis was not a topic for evaluation, but here it is the major focus.  It is a study of yeast cells, and bears some relationship to the comparison of glycemia, oxidative phosphorylation, TCA cycle, and ETC in leukemia cell lines.  In the previous study – system flux was beyond the scope of analysis, and explicitly stated.  The inferences made in comparing the two lymphocytic leukemia cells was of intracellular metabolism from extracellular measurements.  The study of yeast cells is aimed at looking at cellular effluxes, which is also an important method for studying pharmacological effects and drug resistance.

Metabolomic series

1.  Metabolomics, Metabonomics and Functional Nutrition: the next step in nutritional metabolism and biotherapeutics

http://pharmaceuticalintelligence.com/2014/08/22/metabolomics-metabonomics-and-functional-nutrition-the-next-step-in-nutritional-metabolism-and-biotherapeutics/

2.  Metabolomic analysis of two leukemia cell lines. I

http://pharmaceuticalintelligence.com/2014/08/23/metabolomic-analysis-of-two-leukemia-cell-lines-_i/

3.  Metabolomic analysis of two leukemia cell lines. II.

 http://pharmaceuticalintelligence.com/2014/08/24/metabolomic-analysis-of-two-leukemia-cell-lines-ii/

4.  Extracellular evaluation of intracellular flux in yeast cells

Q1. What is efflux?

Q2. What measurements were excluded from the previous study that would not allow inference about fluxes?

Q3. Would this study bear any relationship to the Pasteur effect?

Q4 What is a genome scale network reconstruction?

Q5 What type of information is required for a network prediction model?

Q6. Is there a difference between the metabolites profiles for yeast grown under aerobic and anaerobuc conditions – under the constrainsts?

Q7.  If there is a difference in the S metabolism, would there be an effect on ATP production?

 

 

Connecting extracellular metabolomic measurements to intracellular flux
states in yeast

Monica L Mo1, Bernhard Ø Palsson1 and Markus J Herrgård12*

Author Affiliations

1 Department of Bioengineering, University of California, San Diego, La Jolla, CA 92093, USA

2 Current address: Synthetic Genomics, Inc, 11149 N Torrey Pines Rd, La Jolla, CA 92037, USA

For all author emails, please log on.

BMC Systems Biology 2009, 3:37  doi:10.1186/1752-0509-3-37

 

The electronic version of this article is the complete one and can be found online at: http://www.biomedcentral.com/1752-0509/3/37

 

Received: 15 December 2008
Accepted: 25 March 2009
Published: 25 March 2009

© 2009 Mo et al; licensee BioMed Central Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Background

Metabolomics has emerged as a powerful tool in the

  • quantitative identification of physiological and disease-induced biological states.

Extracellular metabolome or metabolic profiling data, in particular,

  • can provide an insightful view of intracellular physiological states in a noninvasive manner.

Results

We used an updated genome-scale

  • metabolic network model of Saccharomyces cerevisiae, iMM904, to investigate
  1. how changes in the extracellular metabolome can be used
  2. to study systemic changes in intracellular metabolic states.

The iMM904 metabolic network was reconstructed based on

  • an existing genome-scale network, iND750,
  • and includes 904 genes and 1,412 reactions.

The network model was first validated by

  • comparing 2,888 in silico single-gene deletion strain growth phenotype predictions
  • to published experimental data.

Extracellular metabolome data measured

  • of ammonium assimilation pathways 
  • in response to environmental and genetic perturbations

was then integrated with the iMM904 network

  • in the form of relative overflow secretion constraints and
  • a flux sampling approach was used to characterize candidate flux distributions allowed by these constraints.

Predicted intracellular flux changes were

  • consistent with published measurements
  • on intracellular metabolite levels and fluxes.

Patterns of predicted intracellular flux changes

  • could also be used to correctly identify the regions of
  • the metabolic network that were perturbed.

Conclusion

Our results indicate that

  • integrating quantitative extracellular metabolomic profiles
  • in a constraint-based framework
  • enables inferring changes in intracellular metabolic flux states.

Similar methods could potentially be applied

  • towards analyzing biofluid metabolome variations
  • related to human physiological and disease states.

Background

“Omics” technologies are rapidly generating high amounts of data

  • at varying levels of biological detail.

In addition, there is a rapidly growing literature and

  • accompanying databases that compile this information.

This has provided the basis for the assembly of

  • genome-scale metabolic networks for various microbial and eukaryotic organisms [1–11].

These network reconstructions serve

  • as manually curated knowledge bases of
  • biological information as well as
  • mathematical representations of biochemical components and
  • interactions specific to each organism.

A genome-scale network reconstruction is

  • a structured collection of genes, proteins, biochemical reactions, and metabolites
  • determined to exist and operate within a particular organism.

This network can be converted into a predictive model

  • that enables in silico simulations of allowable network states based on
  • governing physico-chemical and genetic constraints [12,13].

A wide range of constraint-based methods have been developed and applied

  • to analyze network metabolic capabilities under
  • different environmental and genetic conditions [13].

These methods have been extensively used to

  • study genome-scale metabolic networks and have successfully predicted, for example,
  1. optimal metabolic states,
  2. gene deletion lethality, and
  3. adaptive evolutionary endpoints [14–16].

Most of these applications utilize

  • optimization-based methods such as flux balance analysis (FBA)
  • to explore the metabolic flux space.

However, the behavior of genome-scale metabolic networks can also be studied

  • using unbiased approaches such as
  • uniform random sampling of steady-state flux distributions [17].

Instead of identifying a single optimal flux distribution based on

  • a given optimization criterion (e.g. biomass production),

these methods allow statistical analysis of

  • a large range of possible alternative flux solutions determined by
  • constraints imposed on the network.

Sampling methods have been previously used to study

  1. global organization of E. coli metabolism [18] as well as
  2. to identify candidate disease states in the cardiomyocyte mitochondria [19].

Network reconstructions provide a structured framework

  • to systematically integrate and analyze disparate datasets
  • including transcriptomic, proteomic, metabolomic, and fluxomic data.

Metabolomic data is one of the more relevant data types for this type of analysis as

  1. network reconstructions define the biochemical links between metabolites, and
  2. recent advancements in analytical technologies have allowed increasingly comprehensive
  • intracellular and extracellular metabolite level measurements [20,21].

The metabolome is

  1. the set of metabolites present under a given physiological condition
  2. at a particular time and is the culminating phenotype resulting from
  • various “upstream” control mechanisms of metabolic processes.

Of particular interest to this present study are

  • the quantitative profiles of metabolites that are secreted into the extracellular environment
  • by cells under different conditions.

Recent advances in profiling the extracellular metabolome (EM) have allowed

  • obtaining insightful biological information on cellular metabolism
  • without disrupting the cell itself.

This information can be obtained through various

  • analytical detection,
  • identification, and
  • quantization techniques

for a variety of systems ranging from

  • unicellular model organisms to human biofluids [20–23].

Metabolite secretion by a cell reflects its internal metabolic state, and

  • its composition varies in response to
  • genetic or experimental perturbations
  • due to changes in intracellular pathway activities
  • involved in the production and utilization of extracellular metabolites [21].

Variations in metabolic fluxes can be reflected in EM changes which can

  • provide insight into the intracellular pathway activities related to metabolite secretion.

The extracellular metabolomic approach has already shown promise

  • in a variety of applications, including
  1. capturing detailed metabolite biomarker variations related to disease and
  2. drug-induced states and
  3. characterizing gene functions in yeast [24–27].

However, interpreting changes in the extracellular metabolome can be challenging

  • due to the indirect relationship between the proximal cause of the change
    (e.g. a mutation)
  • and metabolite secretion.

Since metabolic networks describe

  • mechanistic,
  • biochemical links between metabolites,

integrating such data can allow a systematic approach

  • to identifying altered pathways linked to
  • quantitative changes in secretion profiles.

Measured secretion rates of major byproduct metabolites

  • can be applied as additional exchange flux constraints
  • that define observed metabolic behavior.

For example, a recent study integrating small-scale EM data

  • with a genome-scale yeast model
  • correctly predicted oxygen consumption and ethanol production capacities
  • in mutant strains with respiratory deficiencies [28].

The respiratory deficient mutant study

  • used high accuracy measurements for a small number of
  • major byproduct secretion rates
  • together with an optimization-based method well suited for such data.

Here, we expand the application range of the model-based method used in [28]

  • to extracellular metabolome profiles,
  • which represent a temporal snapshot of the relative abundance
  • for a larger number of secreted metabolites.

Our approach is complementary to

  • statistical (i.e. “top-down”) approaches to metabolome analysis [29]
  • and can potentially be used in applications such as biofluid-based diagnostics or
  • large-scale characterization of mutants strains using metabolite profiles.

This study implements a constraint-based sampling approach on

  • an updated genome-scale network of yeast metabolism
  • to systematically determine how EM level variations

are linked to global changes in intracellular metabolic flux states.

By using a sampling-based network approach and statistical methods (Figure 1),

  • EM changes were linked to systemic intracellular flux perturbations
    in an unbiased manner
  • without relying on defining single optimal flux distributions
  • used in the previously mentioned study [28].

The inferred perturbations in intracellular reaction fluxes were further analyzed

  • using reporter metabolite and subsystem (i.e., metabolic pathway) approaches [30]
  • in order to identify dominant metabolic features that are collectively perturbed (Figure 2).

The sampling-based approach also has the additional benefit of

  • being less sensitive to inaccuracies in metabolite secretion profiles than
  • optimization-based methods and can effectively be used – in biofluid metabolome analysis.
integration of exometabolomic (EM) data

integration of exometabolomic (EM) data

Figure 1. Schematic illustrating the integration of exometabolomic (EM) data with the constraint-based framework.

(A) Cells are subjected to genetic and/or environmental perturbations to secrete metabolite patterns unique to that condition.
(B) EM is detected, identified, and quantified.
(C) EM data is integrated as required secretion flux constraints to define allowable solution space.
(D) Random sampling of solution space yields the range of feasible flux distributions for intracellular reactions.
(E) Sampled fluxes were compared to sampled fluxes of another condition to determine

  • which metabolic regions were altered between the two conditions (see Figure 2).

(F) Significantly altered metabolic regions were identified.

http://www.biomedcentral.com/content/figures/1752-0509-3-37-1.jpg

 

sampling and scoring analysis to determine intracellular flux changes

sampling and scoring analysis to determine intracellular flux changes

Figure 2. Schematic of sampling and scoring analysis to determine intracellular flux changes.

(A) Reaction fluxes are sampled for two conditions.
(B & C) Sample of flux differences is calculated by selecting random flux values from each condition

  • to obtain a distribution of flux differences for each reaction.

(D) Standardized reaction Z-scores are determined, which represent

  • how far the sampled flux differences deviates from a zero flux change.

Reaction scores can be used in

  1. visualizing perturbation subnetworks and
  2. analyzing reporter metabolites and subsystems.

http://www.biomedcentral.com/content/figures/1752-0509-3-37-2.jpg

This study was divided into two parts and describes:

(i) the reconstruction and validation of an expanded S. cerevisiae metabolic network, iMM904; and
(ii) the systematic inference of intracellular metabolic states from

  • two yeast EM data sets using a constraint-based sampling approach.

The first EM data set compares wild type yeast to the gdh1/GDH2 (glutamate dehydrogenase) strain [31],

  • which indicated good agreement between predicted metabolic changes
  • of intracellular metabolite levels and fluxes [31,32].

The second EM data set focused on secreted amino acid measurements

  • from a separate study of yeast cultured in different
    ammonium and potassium concentrations [33].

We analyzed the EM data to gain further insight into

  • perturbed ammonium assimilation processes as well as
  1. metabolic states relating potassium limitation and
  2. ammonium excess conditions to one another.

The model-based analysis of both

  • separately published extracellular metabolome datasets
  • suggests a relationship between
  1. glutamate,
  2. threonine and
  3. folate metabolism,
  • which are collectively perturbed when
    ammonium assimilation processes are broadly disrupted
  1. either by environmental (excess ammonia) or
  2. genetic (gene deletion/overexpression) perturbations.

The methods herein present an approach to

  • interpreting extracellular metabolome data and
  • associating these measured secreted metabolite variations
  • to changes in intracellular metabolic network states.

Additional file 1. iMM904 network content.

The data provided represent the content description of the iMM904 metabolic network and
detailed information on the expanded content.

Format: XLS Size: 2.7MB Download file

This file can be viewed with: Microsoft Excel Viewer

Additional file 2. iMM904 model files.

The data provided are the model text files of the iMM904 metabolic network
that is compatible with the available COBRA Toolbox [13]. The model structure
can be loaded into Matlab using the ‘SimPhenyPlus’ format with GPR and compound information.

Format: ZIP Size: 163KB Download file

Conversion of the network to a predictive model

The network reconstruction was converted to a constraint-based model using established procedures [13].

Network reactions and metabolites were assembled into a stoichiometric matrix S 

  • containing the stoichiometric coefficients of the reactions in the network.

The steady-state solution space containing possible flux distributions

  • is determined by calculating the null space of S: S . v = 0,

where v is the reaction flux vector.

Minimal media conditions were set through constraints on exchange fluxes

  • corresponding to the experimental measured substrate uptake rates.

All the model-based calculations were done using the Matlab COBRA Toolbox [13]

  • utilizing the glpk or Tomlab/CPLEX (Tomopt, Inc.) optimization solvers.

Chemostat growth simulations

The iMM904 model was initially validated by

  1. simulating wild type yeast growth in aerobic and anaerobic
    carbon-limited chemostat conditions
  2. and comparing the simulation results to published experimental data

on substrate uptake and byproduct secretion in these conditions [34].

The study was performed following the approach taken to validate the iFF708 model in a previous study [35].

The predicted glucose uptake rates were determined

  1. by setting the in silico growth rate to the measured dilution rate,
    – equivalent under continuous culture growth,
  2. and minimizing the glucose uptake rate.

The accuracy of in silico predictions of

  • substrate uptake and byproduct secretion by the iMM904 model
  • was similar to the accuracy obtained using the iFF708 model
  • and results are shown in Figure S1 [see Additional file 3].

Additional file 3. Supplemental figures. 

The file provides the supplemental figures and descriptions of S1, S2, S3, and S4.

Format: PDF Size: 513KB Download file

This file can be viewed with: Adobe Acrobat Reader

Genome-scale gene deletion phenotype predictions

The iMM904 network was further validated by

  • performing genome-scale gene lethality computations
  • following established procedures to determine growth phenotypes
  1. under minimal medium conditions and
  2. compared to published data.

A modified version of the biomass function used in previous iND750 studies

  1. was set as the objective to be maximized and
  2. gene deletions were simulated by

setting the flux through the corresponding reaction(s) to zero.

The biomass function was based on the experimentally measured

  1. composition of major cellular constituents
  2. during exponential growth of yeast cells and
  3. was reformulated to include trace amounts of
  4. additional cofactors and metabolites
  5. with the assumed fractional contribution of 10-.

These additional biomass compounds were included

according to the biomass formulation used in the iLL672 study

  • to improve lethality predictions through
  • the inclusion of additional essential biomass components [3].

The model was constrained by limiting

  1. the carbon source uptake to 10 mmol/h/gDW
  2. and oxygen uptake to 2 mmol/h/gDW.

Ammonia, phosphate, and sulfate were assumed to be non-limiting.

The experimental phenotyping data was obtained

  • using strains that were auxotrophic for
  1. methionine,
  2. leucine,
  3. histidine, and
  4. uracil.

These auxotrophies were simulated

  1. by deleting the appropriate genes from the model and
  2. supplementing the in silico strain with the appropriate supplements
  3. at non-limiting, but low levels.

Furthermore, trace amounts of essential nutrients that are present

  • in the experimental minimal media formulation
  1. 4-aminobenzoate,
  2. biotin,
  3. inositol,
  4. nicotinate,
  5. panthothenate,
  6. thiamin)
  • were supplied in the simulations [3].

Three distinct methods to simulate the outcome of gene deletions were utilized:

  1. Flux-balance analysis (FBA) [36-38],
  2. Minimization of Metabolic Adjustment (MoMA) [39], and
  3. a linear version of MoMA (linearMoMA).

In the linearMoMA method, minimization of the quadratic objective function
of the original MoMA algorithm

  • was replaced by minimization of the corresponding 1-norm objective function
    (i.e. sum of the absolute values of the differences of wild type FBA solution
    and the knockout strain flux solution).

The computed results were then compared to growth phenotype data
(viable/lethal) from a previously published experimental gene deletion study [3].

The comparison between experimental and in silico deletion phenotypes involved

  • choosing a threshold for the predicted relative growth rate of
  • a deletion strain that is considered to be viable.

We used standard ROC curve analysis

  • to assess the accuracy of different prediction methods and models
  • across the full range of the viability threshold parameter,
    results shown in Figure S2 [see Additional file 3].

The ROC curve plots the true viable rate against the false viable rate

  • allowing comparison of different models and methods
  • without requiring arbitrarily choosing this parameter a priori [40].

The optimal prediction performance corresponds to

  • the point closest to the top left corner of the ROC plot
    (i.e. 100% true viable rate, 0% false viable rate).

Table 1

Table 1 Comparison of iMM904 and iLL672 gene deletion predictions and experimental data under minimal media conditions
Media Model Method True viable False viable False lethal True lethal True viable % False viable % MCC
Glucose iMM904 full FBA 647 10 32 33 95.29 23.26 0.6
iMM904 full linMOMA 644 10 35 33 94.85 23.26 0.58
iMM904 full MOMA 644 10 35 33 94.85 23.26 0.58
iMM904 red FBA 440 9 28 33 94.02 21.43 0.61
iMM904 red linMOMA 437 9 31 33 93.38 21.43 0.6
iMM904 red MOMA 437 9 31 33 93.38 21.43 0.6
iLL672 full MOMA 433 9 35 33 92.52 21.43 0.57
Galactose iMM904 full FBA 595 32 36 59 94.29 35.16 0.58
iMM904 full linMOMA 595 32 36 59 94.29 35.16 0.58
iMM904 full MOMA 595 32 36 59 94.29 35.16 0.58
iMM904 red FBA 409 12 33 56 92.53 17.65 0.67
iMM904 red linMOMA 409 12 33 56 92.53 17.65 0.67
iMM904 red MOMA 409 12 33 56 92.53 17.65 0.67
iLL672 full MOMA 411 19 31 49 92.99 27.94 0.61
Glycerol iMM904 full FBA 596 43 36 47 94.3 47.78 0.48
iMM904 full linMOMA 595 44 37 46 94.15 48.89 0.47
iMM904 full MOMA 598 44 34 46 94.62 48.89 0.48
iMM904 red FBA 410 20 34 46 92.34 30.3 0.57
iMM904 red linMOMA 409 21 35 45 92.12 31.82 0.56
iMM904 red MOMA 412 21 32 45 92.79 31.82 0.57
iLL672 full MOMA 406 20 38 46 91.44 30.3 0.55
Ethanol iMM904 full FBA 593 45 29 55 95.34 45 0.54
iMM904 full linMOMA 592 45 30 55 95.18 45 0.54
iMM904 full MOMA 592 44 30 56 95.18 44 0.55
iMM904 red FBA 408 21 27 54 93.79 28 0.64
iMM904 red linMOMA 407 21 28 54 93.56 28 0.63
iMM904 red MOMA 407 20 28 55 93.56 26.67 0.64
iLL672 full MOMA 401 13 34 62 92.18 17.33 0.68
MCC, Matthews correlation coefficient (see Methods). Note that the iLL672 predictions were obtained directly from [3] and thus the viability threshold was not optimized using the maximum MCC approach.
Mo et al. BMC Systems Biology 2009 3:37  http://dx.doi.org:/10.1186/1752-0509-3-37

 

The values reported in Table 1 correspond to selecting

  • the optimal viability threshold based on this criterion.

We summarized the overall prediction accuracy of a model and method

  • using the Matthews Correlation Coefficient (MCC) [40].

The MCC ranges from -1 (all predictions incorrect) to +1 (all predictions correct) and

  • is suitable for summarizing overall prediction performance

in our case where there are substantially more viable than lethal gene deletions.

ROC plots were produced in Matlab (Mathworks, Inc.).

 

Table 1. Comparison of iMM904 and iLL672

  • gene deletion predictions and
  • experimental data

Inferring perturbed metabolic regions based on EM profiles

The method implemented in this study is shown schematically in Figures 1 and 2

Constraining the iMM904 network 

Relative levels of quantitative EM data were incorporated into the constraint-based framework

  • as overflow secretion exchange fluxes to simulate the required low-level production of
  • experimentally observed excreted metabolites.

The primary objective of this study is to associate

  • relative metabolite levels that are generally measured for metabonomic or biofluid analyses
  • to the quantitative ranges of intracellular reaction fluxes required to produce them.

However, without detailed kinetic information or dynamic metabolite measurements available,

  • we approximated EM datasets of relative quantitative metabolite levels
  • to be proportional to the rate in which they are secreted and detected
  • (at a steady state) – into the extracellular media.

This approach is analogous to approximating uptake rates based

  • on metabolite concentrations from a previous study performing sampling analysis
  • on a cardiomyocyte mitochondrial network
  • to identify differential flux distribution ranges

for various environmental (i.e. substrate uptake) conditions [19].

The raw data was normalized by the raw maximum value of the dataset
(thus the maximum secretion flux was 1 mmol/hr/gDW) with

  • an assumed error of 10%
  • to set the lower and upper bounds and thus
  • inherently accounting for sampling calculation sensitivity.

The gdh1/GDH2 strains were flask cultured under minimal glucose media conditions; thus,

  • glucose and oxygen uptake rates were set at 15 and 2 mmol/hr/gDW, respectively,
  • for the gdh1/GDH2 strain study.

In the anaerobic case the oxygen uptake rate was set to zero, and

  • sterols and fatty acids were provided as in silico supplements as described in [35].

For the potassium limitation/ammonium toxicity study

  • the growth rate was set at 0.17 1/h, and
  • the glucose uptake rate was minimized
  • to mimic experimental chemostat cultivation conditions.

These input constraints were constant for each perturbation and comparative wild-type condition

  • such that the calculated solution spaces between the conditions
  • differed based only on variations in the output secretion constraints.

FBA optimization of EM-constrained networks

A modified FBA method with minimization of the 1-norm objective function

  • between two optimal flux distributions was used
  • to determine optimal intracellular fluxes
  • based on the EM-constrained metabolic models.

This method determines two optimal flux distributions simultaneously

  • for two differently constrained models (e.g. wild type vs. mutant) –
  • these flux distributions maximize biomass production in each case and
  • the 1-norm distance between the distributions is as small as possible
  • given the two sets of constraints.

This approach avoids problems with

  • alternative optimal solutions when comparing two FBA-computed flux distributions
  • by assuming minimal rerouting of flux distibution between a perturbed network and its reference network.

Reaction flux changes from the FBA optimization results were determined

  • by computing the relative percentage fold change for each reaction
  • between the mutant and wild-type flux distributions.

Random sampling of the steady-state solution space

We utilized artificial centering hit-and-run (ACHR) Monte Carlo sampling [19,41]

  • to uniformly sample the metabolic flux solution space
  • defined by the constraints described above.

Reactions, and their participating metabolites, found to participate in intracellular loops [42]

  • were discarded from further analysis as these reactions can have arbitrary flux values.

The following sections describe the approaches used for the analysis of the different datasets.

Sampling approach used in the gdh1/GDH2 study

Due to the overall shape of the metabolic flux solution space,

  • most of the sampled flux distributions resided close to the minimally allowed growth rate
    (i.e. biomass production) and
  • corresponded to various futile cycles that utilized substrates but
  • did not produce significant biomass.

In order to study more physiologically relevant portions of the flux space

  • we restricted the sampling to the part of the solution space
  • where the growth rate was at least 50% of the maximum growth rate
  • for the condition as determined by FBA.

This assumes that cellular growth remains an important overall objective by the yeast cells

  • even in batch cultivation conditions, but
  • that the intracellular flux distributions
  • may not correspond to maximum biomass production [43].

To test the sensitivity of the results to the minimum growth rate threshold,

  • separate Monte Carlo samples were created for each minimum threshold
  • ranging from 50% to 100% at 5% increments.

We also tested the sensitivity of the results

  • to the relative magnitude of the extracellular metabolite secretion rates
  • by performing the sampling at three different relative levels

(0 corresponding to no extracellular metabolite secretion, maximum rate of 0.5 mmol/hr/gDW,
and maximum rate of 1.0 mmol/hr/gDW).

For each minimum growth rate threshold and extracellular metabolite secretion rate,

  • the ACHR sampler was run for 5 million steps and
  • a flux distribution was stored every 5000 steps.

The sensitivity analysis results are presented in Figures S3 and S4 [see Additional File 3], and

  • the results indicate that the reaction Z-scores (see below) are not significantly affected by
  1. either the portion of the solution space sampled or
  2. the exact scaling of secretion rates.

The final overall sample used was created by combining the samples for all minimum growth rate thresholds

  • for the highest extracellular metabolite secretion rate (maximum 1 mmol/hr/gDW).

This approach allowed biasing the sampling towards

  • physiologically relevant parts of the solution space
  • without imposing the requirement of strictly maximizing a predetermined objective function.

The samples obtained with no EM data were used as control samples

  • to filter reporter metabolites/subsystems whose scores were significantly high
  • due to only random differences between sampling runs.

Sampling approach used in the potassium limitation/ammonium toxicity study

Since the experimental data used in this study was generated in chemostat conditions, and

  • previous studies have indicated that chemostat flux patterns predicted by FBA are
  • close to the experimentally measured ones [43],
  • we assumed that sampling of the optimal solution space was appropriate for this study.

In order to sample a physiologically reasonable range of flux distributions,

  • samples for four different oxygen uptake rates
    (1, 2, 3, and 4 mmol/hr/gDW with 5 million steps each)
  • were combined in the final analysis.

Standardized scoring of flux differences between perturbation and control conditions

A Z-score based approach was implemented to quantify differences in flux samples between two conditions (Figure 2).
First, two flux vectors were chosen randomly,

  • one from each of the two samples to be compared and
  • the difference between the flux vectors was computed.

This approach was repeated to create a sample of 10,000 (n) flux difference vectors

  • for each pair of conditions considered (e.g. mutant or perturbed environment vs. wild type).

Based on this flux difference sample, the sample mean (μdiff,i) and standard deviation (σdiff,i)

  • between the two conditions was calculated for each reaction i. The reaction Z-score was calculated as:

 

reaction Z-score

reaction Z-score

which describes the sampled mean difference deviation

  • from a population mean change of zero (i.e. no flux difference
    between perturbation and wild type).

Note that this approach allows accounting for uncertainty in the

  • flux distributions inferred based on the extracellular metabolite secretion constraints.

This is in contrast to approaches such as FBA or MoMA that would predict

  • a single flux distribution for each condition and thus potentially
  • overestimate differences between conditions.

The reaction Z-scores can then be further used in analysis

  • to identify significantly perturbed regions of the metabolic network
  • based on reporter metabolite [44] or subsystem [30] Z-scores.

These reporter regions indicate, or “report”, dominant perturbation features

  • at the metabolite and pathway levels for a particular condition.

The reporter metabolite Z-score for any metabolite j can be derived from the reaction Z-scores

  • of the reactions consuming or producing j (set of reactions denoted as Rj) as:

 

reporter z-score for any metabolite j

reporter z-score for any metabolite j

where Nj is the number of reactions in Rj and mmet,j is calculated as

 

distributional correction for m_met,j SQRT

distributional correction for m_met,j SQRT

To account and correct for background distribution, the metabolite Z-score was normalized

  • by computing μmet,Nj and σmet,,Nj corresponding to the mean mmet and
  • its standard deviation for 1,000 randomly generated reaction sets of size Nj.

Z-scores for subsystems were calculated similarly by considering the set of reactions Rk 

  • that belongs to each subsystem k.

Hence, positive metabolite and subsystem scores indicate a significantly perturbed metabolic region

  • relative to other regions, whereas
  • a negative score indicate regions that are not perturbed
  • more significantly than what is expected by random chance.

Perturbation subnetworks of reactions and connecting metabolites were visualized using Cytoscape [45].

Results and discussion

  1. Reconstruction and validation of iMM904 network iMM904 network content 

A previously reconstructed S. cerevisiae network, iND750,

  • was used as the basis for the construction of the expanded iMM904 network.
  • Prior to its presentation here, the
    iMM904 network content was the basis for a consensus jamboree network that was recently published
  • but has not yet been adapted for FBA calculations [46].

The majority of iND750 content was carried over and

  • further expanded on to construct iMM904, which accounts for
  1. 904 genes,
  2. 1,228 individual metabolites, and
  3. 1,412 reactions of which
  •                       395 are transport reactions.

Both the number of gene-associated reactions and the number of metabolites

  • increased in iMM904 compared with the iND750 network.

Additional genes and reactions included in the network primarily expanded the

  • lipid,
  • transport, and
  • carbohydrate subsystems.

The lipid subsystem includes

  • new genes and
  • reactions involving the degradation of sphingolipids and glycerolipids.

Sterol metabolism was also expanded to include

  • the formation and degradation of steryl esters, the
  •                      storage form of sterols.

The majority of the new transport reactions were added

  • to connect network gaps between intracellular compartments
  • to enable the completion of known physiological functions.

We also added a number of new secretion pathways

  • based on experimentally observed secreted metabolites [31].

A number of gene-protein-reaction (GPR) relationships were modified

  • to include additional gene products that are required to catalyze a reaction.

For example, the protein compounds

  • thioredoxin and
  • ferricytochrome C

were explicitly represented as compounds in iND750 reactions, but

  • the genes encoding these proteins were not associated with their corresponding GPRs.

Other examples include glycogenin and NADPH cytochrome p450 reductases (CPRs),

  1. which are required in the assembly of glycogen and
  2. to sustain catalytic activity in cytochromes p450, respectively.

These additional proteins were included in iMM904 as

  • part of protein complexes to provide a more complete
  • representation of the genes and
  • their corresponding products necessary for a catalytic activity to occur.

Major modifications to existing reactions were in cofactor biosynthesis, namely in

  • quinone,
  • beta-alanine, and
  • riboflavin biosynthetic pathways.

Reactions from previous S. cerevisiae networks associated with

  • quinone,
  • beta-alanine, and
  • riboflavin biosynthetic pathways

were essentially inferred from known reaction mechanisms based on

  • reactions in previous network reconstructions of E. coli [2,47].

These pathways were manually reviewed

  • based on current literature and subsequently replaced by
  • reactions and metabolites specific to yeast.

Additional changes in other subsystems were also made, such as

  1. changes to the compartmental location of a gene and
  2. its corresponding reaction(s),
  3. changes in reaction reversibility and cofactor specificity, and
  4. the elucidation of particular transport mechanisms.

A comprehensive listing of iMM904 network contents as well as

  • a detailed list of changes between iND750 and iMM904 is included
    [see Additional file 1].

Predicting deletion growth phenotypes

The updated genome-scale iMM904 metabolic network was validated

  • by comparing in silico single-gene deletion predictions to
  • in vivo results from a previous study used
  • to analyze another S. cerevisiae metabolic model, iLL672 [3].

This network was constructed based on the iFF708 network [22],

  • which was also the starting point for
  • reconstructing the iND750 network [2].

The experimental data used to validate the iLL672 model consisted of

3,360 single-gene knockout strain phenotypes evaluated

  • under minimal media growth conditions with
  1. glucose,
  2. galactose,
  3. glycerol, and
  4. ethanol

as sole carbon sources. Growth phenotypes for the iMM904 network were predictedusing

  1. FBA [32–34],
  2. MoMA [35], and
  3. linear MoMA methods

as described in Methods and subsequently compared to the experimental data (Table 1).

Each deleted gene growth prediction comparison was classified as

  1. true lethal,
  2. true viable,
  3. false lethal, or
  4. false viable.

The growth rate threshold for considering a prediction viable was chosen

  • for each condition and method separately
  • to optimize the tradeoff between true viable and false viable predictions
    (maximum Matthews correlation coefficient, see Methods).

Since iMM904 has 212 more genes than iLL672 with experimental data, we also present results

  • for the subset of iMM904 predictions with genes included in iLL672 (reduced iMM904 set).

When the same gene sets are compared, iMM904 improves gene lethality predictions under

  • glucose,
  • galactose, and
  • glycerol conditions

over iLL672 somewhat, but is less accurate

  • at predicting growth phenotypes under the ethanol condition.

It should be noted that the iLL672 predictions were obtained directly from [3]

  • thus the growth rate threshold was not optimized similarly to iMM904 predictions.

Overall, when viability cutoff is chosen

  • as indicated above for each method separately,
  • the three prediction methods perform similarly
  1. FBA,
  2. MOMA, and
  3. linear MOMA) .

While the full gene complement in iMM904 greatly increased

  • the number of true viable predictions,
  • the full model also made significantly more false viable predictions
  • compared with reduced iMM904 and iLL672 predictions.

However, it is important to note that 143 reactions involved in dead-end biosynthetic pathways were actually

  • removed from iFF708 to build the iLL672 reconstruction [3].

These dead-ends are considered “knowledge gaps” in pathways

  • that have not been fully characterized and, as a result,
  • lead to false viable predictions when determining gene essentiality
  • if the pathway is in fact required for growth under a certain condition [2,26].

As more of these pathways are elucidated and

  • included in the model to
  • fill in existing network gaps,
  • we can expect false viable prediction rates to consequently decrease.

Thus, while a larger network has a temporarily reduced capacity to accurately predict gene deletion phenotypes,

  • it captures a more complete picture of currently known metabolic functions and
  • provides a framework for network expansion as new pathways are elucidated [48].

 

Inferring intracellular perturbation states from metabolic profiles – Aerobic and anaerobic gdh1/GDH2 mutant behavior

The gdh1/GDH2 mutant strain was previously developed [49,50]

  • to lower NADPH consumption in ammonia assimilation, which would
  • favor the NADPH-dependent fermentation of xylose.

In this strain, the NADPH-dependent glutamate dehydrogenase, Gdh1, was

  • deleted and the NADH-dependent form of the enzyme, Gdh2,
  •                     was overexpressed.

The net effect is to allow efficient assimilation of ammonia

  • into glutamate using NADH instead of NADPH as a cofactor.

While growth characteristics remained unaffected,

  • relative quantities of secreted metabolites differed between the wild-type and mutant strain
  • under aerobic and anaerobic conditions.

We analyzed EM data for the gdh1/GDH2 and wild-type strains reported

  • in [31] under aerobic and anaerobic conditions separately using
  • both FBA optimization and
  • sampling-based approaches as described in Methods.

43 measured extracellular and intracellular metabolites from the original dataset [31],

  • primarily of central carbon and amino acid metabolism,
  • were explicitly represented in the iMM904 network [see Additional file 4].

Extracellular metabolite levels were used

  • to formulate secretion constraints and
  • differential intracellular metabolites were used
  • to compare and validate the intracellular flux predictions.

Perturbed reactions from the FBA results were

  • determined by calculating relative flux changes, and
  • reaction Z-scores were calculated from the sampling analysis
  • to quantify flux changes between the mutant and wild-type strains,
  • with Z reaction > 1.96 corresponding to a two-tailed p-value < 0.05 and
  • considered to be significantly perturbed [see Additional file 4].

Additional file 4. Gdh mutant aerobic and anaerobic analysis results. 

The data provided are the full results for the exometabolomic analysis of aerobic and anerobic gdh1/GDH2 mutant.

Format: XLS Size: 669KB Download file

This file can be viewed with: Microsoft Excel Viewer

To validate the predicted results, reaction flux changes from both FBA and sampling methods were compared to differential intracellular metabolite level data measured from the same study. Intracellular metabolites involved in highly perturbed reactions (i.e. reactants and products) predicted from FBA and sampling analyses were identified and
compared to metabolites that were experimentally identified as significantly changed (p < 0.05) between mutant and wild-type. Statistical measures of recall, accuracy, and
precision were calculated and represent the predictive sensitivity, exactness, and reproducibility respectively. From the sampling analysis, a considerably larger number of
significantly perturbed reactions are predicted in the anaerobic case (505 reactions, or 70.7% of active reactions) than in aerobic (394 reactions, or 49.8% of active reactions). The top percentile of FBA flux changes equivalent to the percentage of significantly perturbed sampling reactions were compared to the intracellular data. Results from both analyses are summarized in Table 2. Sampling predictions were considerably higher in recall than FBA predictions for both conditions, with respective ranges of 0.83–1
compared to 0.48–0.96. Accuracy was also higher in sampling predictions; however, precision was slightly better in the FBA predictions as expected due to the smaller
number of predicted changes. Overall, the sampling predictions of perturbed intracellular metabolites are strongly consistent with the experimental data and significantly
outperforms that of FBA optimization predictions in accurately predicting differential metabolites involved in perturbed intracellular fluxes.

Table 2. Statistical comparison of the differential intracellular metabolite data set (p < 0.05) with metabolites involved in perturbed reactions predicted by FBA optimization and sampling analyses for aerobic and anaerobic gdh1/GDH2 mutant.

 

Table 2 Statistical comparison of the differential intracellular metabolite data set (p < 0.05)
with metabolites involved in perturbed reactions predicted by FBA optimization and
sampling analyses for aerobic and anaerobic gdh1/GDH2 mutant.
                           Aerobic                         Anaerobic                             Overall
FBA Sampling FBA Sampling FBA
Recall 0.48 0.83 0.96 1 0.71 0.91
Accuracy 0.55 0.62 0.64 0.64 0.6 0.63
Precision 0.78 0.69 0.64 0.63 0.68 0.66
Overall statistics indicate combined results of both conditions.
Mo et al. BMC Systems Biology 2009 3:37   http://dx.doi.org:/10.1186/1752-0509-3-37


Figure 3.
 Perturbation reaction subnetwork of gdh1/GDH2 mutant under aerobic conditions.

The network illustrates a simplified subset of highly perturbedPerturbation subnetworks can be drawn to visualize predicted significantly perturbed intracellular reactions and illustrate their connection to the observed secreted metabolites in the aerobic and anaerobic gdh1/GDH2 mutants.

Perturbation reaction subnetwork of gdh1.GDH2 mutant under aerobic conditions.

Perturbation reaction subnetwork of gdh1.GDH2 mutant under aerobic conditions.

Figure 3 shows an example of a simplified aerobic perturbation subnetwork consisting primarily of proximal pathways connected directly to a subset of major secreted
metabolites

  • glutamate,
  • proline,
  • D-lactate, and
  • 2-hydroxybuturate.

Figure 4 displays anaerobic reactions with Z-scores of similar magnitude to the perturbed reactions in Figure 3. The same subset of metabolites is also present in the
larger anaerobic perturbation network and indicates that the NADPH/NADH balance perturbation induced by the gdh1/GDH2 manipulation has widespread effects
beyond just altering glutamate metabolism anaerobically.

Interestingly, it is clear that the majority of the secreted metabolite pathways involve connected perturbed reactions that broadly converge on glutamate.

Note that Figures 3 and 4 only show the subnetworks that consisted of two or more connected reactions  for a number of secreted metabolites no contiguous perturbed pathway could be identified by the sampling approach. This indicates that the secreted metabolite pattern alone is not sufficient to determine which specific
production and secretion pathways are used by the cell for these metabolites.

Reactions connected to aerobically-secreted metabolites predicted from the sampling analysis of the gdh1/GDH2 mutant strain.
The major secreted metabolites

  • glutamate,
  • proline,
  • D-lactate, and
  • 2-hydroxybuturate

were also detected in the anaerobic condition. Metabolite abbreviations are found in Additional file 1.

Figure 4.

Perturbation reaction subnetwork of gdh1/GDH2 mutant under anaerobic conditions.

Perturbation reaction subnetwork of gdh1.GDH2 mutant under anaerobic conditions

Perturbation reaction subnetwork of gdh1.GDH2 mutant under anaerobic conditions

Subnetwork illustrates the highly perturbed anaerobic reactions of similar Z-reaction magnitude to the reactions in Figure 3.

A significantly larger number of reactions indicates mutant metabolic effects are more widespread in the anaerobic environment.
The network shows that perturbed pathways converge on glutamate, the main site in which the gdh1/GDH2 modification was introduced, which
suggests that the direct genetic perturbation effects are amplified under this environment. Metabolite abbreviations are found in Additional file 1.

To further highlight metabolic regions that have been systemically affected by the gdh1/GDH2 modification, reporter metabolite and subsystem methods [30] were used to
summarize reaction scores around specific metabolites and in specific metabolic subsystems. The top ten significant scores for metabolites/subsystems associated with more
than three reactions are summarized in Tables 3 (aerobic) and 4 (anaerobic), with Z > 1.64 corresponding to p < 0.05 for a one-tailed distribution. Full data for all reactions,
reporter metabolites, and reporter subsystems is included [see Additional file 4].

Table 3. List of the top ten significant reporter metabolite and subsystem scores for the gdh1/GDH2 vs. wild type comparison in aerobic conditions.

Table 3
List of the top ten significant reporter metabolite and subsystem scores for the gdh1/GDH2 vs. wild type comparison in aerobic conditions.
Reporter metabolite Z-score No of reactions*
L-proline [c] 2.71 4
Carbon dioxide [m] 2.51 15
Proton [m] 2.19 51
Glyceraldehyde 3-phosphate [c] 1.93 7
Ubiquinone-6 [m] 1.82 5
Ubiquinol-6 [m] 1.82 5
Ribulose-5-phosphate [c] 1.8 4
Uracil [c] 1.74 4
L-homoserine [c] 1.72 4
Alpha-ketoglutarate [m] 1.71 8
Reporter subsystem Z-score No of reactions
Citric Acid Cycle 4.58 7
Pentose Phosphate Pathway 3.29 12
Glycine and Serine Metabolism 2.69 17
Alanine and Aspartate Metabolism 2.65 6
Oxidative Phosphorylation 1.79 8
Thiamine Metabolism 1.54 8
Arginine and Proline Metabolism 1.44 20
Other Amino Acid Metabolism 1.28 5
Glycolysis/Gluconeogenesis 0.58 14
Anaplerotic reactions 0.19 9
*Number of reactions categorized in a subsystem or found to be neighboring each metabolite
Mo et al. BMC Systems Biology 2009 3:37   http://dx.doi.org:/10.1186/1752-0509-3-37

Table 4. List of top ten significant reporter metabolite and subsystem scores for the gdh1/GDH2 vs. wild type comparison in anaerobic conditions.

 

Table 4
List of top ten significant reporter metabolite and subsystem scores for the gdh1/GDH2 vs. wild type comparison in anaerobic conditions.
Reporter metabolite Z-score No of reactions
Glutamate [c] 4.52 35
Aspartate [c] 3.21 11
Alpha-ketoglutarate [c] 2.66 17
Glycine [c] 2.65 7
Pyruvate [m] 2.56 7
Ribulose-5-phosphate [c] 2.43 4
Threonine [c] 2.28 6
10-formyltetrahydrofolate [c] 2.27 5
Fumarate [c] 2.27 5
L-proline [c] 2.04 4
Reporter subsystem Z-score No of reactions
Valine, Leucine, and Isoleucine Metabolism 3.97 15
Tyrosine, Tryptophan, and Phenylalanine Metabolism 3.39 23
Pentose Phosphate Pathway 3.29 11
Purine and Pyrimidine Biosynthesis 3.08 40
Arginine and Proline Metabolism 2.96 19
Threonine and Lysine Metabolism 2.74 14
NAD Biosynthesis 2.66 7
Alanine and Aspartate Metabolism 2.65 6
Histidine Metabolism 2.24 10
Cysteine Metabolism 1.85 10
Mo et al. BMC Systems Biology 2009 3:37   http://dx.doi.org:/10.1186/1752-0509-3-37
Open Data

Perturbations under aerobic conditions largely consisted of pathways involved in mediating the NADH and NADPH balance. Among the highest scoring aerobic subsystems
are TCA cycle and pentose phosphate pathway – key pathways directly involved in the generation of NADH and NADPH. Reporter metabolites involved in these
subsystems –

  • glyceraldehyde-3-phosphate,
  • ribulose-5-phosphate, and
  • alpha-ketoglutarate – were also identified.

These results are consistent with flux and enzyme activity measurements

  • of the gdh1/GDH2 strain under aerobic conditions [32],
  1. which reported significant reduction in the pentose phosphate pathway flux
  2. with concomitant changes in other central metabolic pathways.

Levels of several TCA cycle intermediates (e.g. fumarate, succinate, malate) were also elevated

  • in the gdh1/GDH2 mutant according to the differential intracellular metabolite data.

Altered energy metabolism, as indicated by

  • reporter metabolites (i.e. ubiquinone- , ubiquinol, mitochondrial proton)
  • and subsystem (oxidative phosphorylation),

is certainly feasible as NADH is a primary reducing agent for ATP production.

Pentose phosphate pathway and NAD biosynthesis also appears

  • among the most perturbed anaerobic subsystems, further suggesting
  • perturbed cofactor balance as a common, dominant effect under both conditions.

Glutamate dehydrogenase is a critical enzyme of amino acid biosynthesis as it acts as

  • the entry point for ammonium assimilation via glutamate.

Consequently, metabolic subsystems involved in amino acid biosynthesis were broadly perturbed

  • as a result of the gdh1/GDH2 modification in both aerobic and anaerobic conditions.

For example, the proline biosynthesis pathway that uses glutamate as a precursor

  • was significantly perturbed in both conditions,
  • with significantly changed intracellular and extracellular levels.

There were differences, however, in that more amino acid related subsystems were

  • significantly affected in the anaerobic case (Table 4),
  • further highlighting that altered ammonium assimilation in the mutant
  • has a more widespread effect under anaerobic conditions.

This effect is especially pronounced for

  • threonine and nucleotide metabolism,
  • which were predicted to be significantly perturbed only in anaerobic conditions.

Intracellular threonine levels were amongst the most significantly reduced

  • relative to other differential intracellular metabolites in the anaerobically grown gdh1/GDH2 strain
    (see [31] and Additional file 4), and
  • the relationship between threonine and nucleotide biosynthesis is further supported

by threonine’s recently discovered role as a key precursor in yeast nucleotide biosynthesis [51].

Other key anaerobic reporter metabolites are

  • glycine and 10-formyltetrahydrofolate,
  • both of which are involved in the cytosolic folate cycle (one-carbon metabolism).

Folate is intimately linked to biosynthetic pathways of

  • glycine (with threonine as its precursor) and purines
  • by mediating one-carbon reaction transfers necessary in their metabolism and
  • is a key cofactor in cellular growth [52].

Thus, the anaerobic perturbations identified in the analysis emphasize the close relationship

  • between threonine, folate, and nucleotide metabolic pathways as well as
  • their potential connection to perturbed ammonium assimilation processes.

Interestingly, this association has been previously demonstrated at the transcriptional level

  • as yeast ammonium assimilation (via glutamine synthesis) was found to be
  • co-regulated with genes involved in glycine, folate, and purine synthesis [53].

In summary, the overall differences in predicted gdh1/GDH2 mutant behavior

  • under aerobic and anaerobic conditions show that changes in flux states
  • directly related to modified ammonium assimilation pathway
  1. are amplified anaerobically whereas the
  2. indirect effects through NADH/NADPH balance are more significant aerobically.

Perturbed metabolic regions under aerobic conditions were predominantly

  • in central metabolic pathways involved in responding to the changed NADH/NADPH demand
  • and did not necessarily emphasize that glutamate dehydrogenase was the site of the genetic modification.

The majority of affected anaerobic pathways were involved directly

  • in modified ammonium assimilation as evidenced by

1) significantly perturbed amino acid subsystems,

2) a broad perturbation subnetwork converging on glutamate (Figure 4), and

3) glutamate as the most significant reporter metabolite (Table 4).

Potassium-limited and excess ammonium environments

A recent study reported that potassium limitation resulted in significant

  • growth retardation effect in yeast due to excess ammonium uptake
  • when ammonium was provided as the sole nitrogen source [33].

The proposed mechanism for this effect was that ammonium

  • could to be freely transported through potassium channels
  • when potassium concentrations were low in the media environment, thereby
  • resulting in excess ammonium uptake [33].

As a result, yeast incurred a significant metabolic cost

  • in assimilating ammonia to glutamate and
  • secreting significant amounts of glutamate and other amino acids
  • in potassium-limited conditions as a means to detoxify the excess ammonium.

A similar effect was observed when yeast was grown

  • with no potassium limitation,
  • but with excess ammonia in the environment.

While the observed effect of both environments (low potassium or excess ammonia) was similar,

  • quantitatively unique amino acid secretion profiles suggested that
  • internal metabolic states in these conditions are potentially different.

In order to elucidate the differences in internal metabolic states, we utilized

  • the iMM904 model and the EM profile analysis method to analyze amino acid secretion profiles
  • for a range of low potassium and high ammonia conditions reported in [33].

As before, we utilized amino acid secretion patterns as constraints to the iMM904 model,

  1. sampled the allowable solution space,
  2. computed reaction Z-scores for changes from a reference condition (normal potassium and ammonia), and
  3. finally summarized the resulting changes using reporter metabolites.

Figure 5 shows a clustering of the most significant reporter metabolites (Z ≥ 1.96 in any of the four conditions studied)

  • obtained from this analysis across the four conditions studied.

Interestingly, the potassium-limited environment perturbed only a subset of

  • the significant reporter metabolites identified in the high ammonia environments.

Both low potassium environments shared a consistent pattern of

  • highly perturbed amino acids and related precursor biosynthesis metabolites
    (e.g. pyruvate, PRPP, alpha-ketoglutarate)
  • with high ammonium environments.

The amino acid perturbation pattern (indicated by red labels in Figure 5) was present in

  • the ammonium-toxic environments, although the pattern was
  • slightly weaker for the lower ammonium concentration.

Nevertheless, the results clearly indicate that a similar

  • ammonium detoxifying mechanism that primarily perturbs pathways
  • directly related to amino acid metabolism
  • exists under both types of media conditions.

Figure 5.

Clustergram of top reporter metabolites - y in ammonium-toxic and potassium-limited conditions

Clustergram of top reporter metabolites – y in ammonium-toxic and potassium-limited conditions

Clustergram of top reporter metabolites (i.e. in yellow) in ammonium-toxic and potassium-limited conditions.

Amino acid perturbation patterns (shown in red) were shown to be consistently scored across conditions, indicating that potassium-limited environments K1 (lowest
concentration) and K2 (low concentration) elicited a similar ammonium detoxification response as ammonium-toxic environments N1 (high concentration) and N2
(highest concentration). Metabolites associated with folate metabolism (highlighted in green) are also highly perturbed in ammonium-toxic conditions. Metabolite
abbreviations are found in Additional file 1.

In addition to perturbed amino acids, a secondary effect notably appears at high ammonia levels in which metabolic regions related to folate metabolism are significantly affected. As highlighted in green in Figure 3, we predicted significantly perturbed key metabolites involved in the cytosolic folate cycle. These include tetrahydrofolate derivatives and other metabolites connected to the folate pathway, namely glycine and the methionine-derived methylation cofactors S-adenosylmethionine and S-adenosyl-homocysteine. Additionally, threonine was identified to be a key perturbed metabolite in excess ammonium conditions. These results further illustrate the close
connection between threonine biosynthesis, folate metabolism involving glycine derived from its threonine precursor, and nucleotide biosynthesis [51] that was discussed in
conjunction with the gdh1/GDH2 strain data. Taken together with the anaerobic gdh1/GDH2 data, the results consistently suggest highly perturbed threonine and folate
metabolism when amino acid-related pathways are broadly affected.

In both ammonium-toxic and potassium-limited environments, impaired cellular growth was observed, which can be attributed to high energetic costs of increased
ammonium assimilation to synthesize and excrete amino acids. However, under high ammonium environments, reporter metabolites related to threonine and folate
metabolism indicated that their perturbation, and thus purine supply, may be an additional factor in decreasing cellular viability as there is a direct relationship between
intracellular folate levels and growth rate [54]. Based on these results, we concluded that while potassiumlimited growth in yeast indeed shares physiological features with
growth in ammonium excess, its effects are not as detrimental as actual ammonium excess. The effects on proximal amino acid metabolic pathways are similar in both
environments as indicated by the secretion of the majority of amino acids. However, when our method was applied to analyze the physiological basis behind differences in
secretion profiles between low potassium and high ammonium conditions, ammonium excess was predicted to likely disrupt physiological ammonium assimilation processes,
which in turn potentially impacts folate metabolism and associated cellular growth.

Conclusion

The method presented in this study presents an approach to connecting intracellular flux states to metabolites that are excreted under various physiological conditions. We
showed that well-curated genome-scale metabolic networks can be used to integrate and analyze quantitative EM data by systematically identifying altered intracellular
pathways related to measured changes in the extracellular metabolome. We were able to identify statistically significant metabolic regions that were altered as a result of
genetic (gdh1/GD2 mutant) and environmental (excess ammonium and limited potassium) perturbations, and the predicted intracellular metabolic changes were consistent
with previously published experimental data including measurements of intracellular metabolite levels and metabolic fluxes. Our reanalysis of previously published EM data
on ammonium assimilation-related genetic and environmental perturbations also resulted in testable hypotheses about the role of threonine and folate pathways in mediating
broad responses to changes in ammonium utilization. These studies also demonstrated that the samplingbased method can be readily applied when only partial secreted
metabolite profiles (e.g. only amino acids) are available.

With the emergence of metabolite biofluid biomarkers as a diagnostic tool in human disease [55,56] and the availability of genome-scale human metabolic networks [1],
extensions of the present method would allow identifying potential pathway changes linked to these biomarkers. Employing such a method for studying yeast metabolism was possible as the metabolomic data was measured under controllable environmental conditions where the inputs and outputs of the system were defined. Measured metabolite biomarkers in a clinical setting, however, is far from a controlled environment with significant variations in genetic, nutritional, and environmental factors between different
patients. While there are certainly limitations for clinical applications, the method introduced here is a progressive step towards applying genome-scale metabolic networks
towards analyzing biofluid metabolome data as it 1) avoids the need to only study optimal metabolic states based on a predetermined objective function, 2) allows dealing with noisy experimental data through the sampling approach, and 3) enables analysis even with limited identification of metabolites in the data. The ability to establish potential
connections between extracellular markers and intracellular pathways would be valuable in delineating the genetic and environmental factors associated with a particular
disease.

Authors’ contributions

Conceived and designed the experiments: MLM MJH BOP. Performed experiments: MLM MJH. Analyzed the data: MLM MJH. Wrote the paper: MLM MJH BOP. All authors have read and approved the final manuscript.

Acknowledgements

We thank Jens Nielsen for providing the raw metabolome data for the mutant strain, and Jan Schellenberger and Ines Thiele for valuable discussions. This work was supported by NIH grant R01 GM071808. BOP serves on the scientific advisory board of Genomatica Inc.

 

References

  1. Duarte NC, Becker SA, Jamshidi N, Thiele I, Mo ML, Vo TD, Srivas R, Palsson BO: Global reconstruction of the human metabolic network based on genomic and bibliomic data. 

Proc Natl Acad Sci USA 2007, 104(6):1777-1782. PubMed Abstract | Publisher Full Text | PubMed Central Full Text

  1. Duarte NC, Herrgard MJ, Palsson B: Reconstruction and Validation of Saccharomyces cerevisiae iND750, a Fully Compartmentalized Genome-Scale Metabolic Model. 

Genome Res 2004, 14(7):1298-1309. PubMed Abstract | Publisher Full Text | PubMed Central Full Text

  1. Kuepfer L, Sauer U, Blank LM: Metabolic functions of duplicate genes in Saccharomyces cerevisiae. 

Genome Res 2005, 15(10):1421-1430. PubMed Abstract | Publisher Full Text | PubMed Central Full Text

  1. Nookaew I, Jewett MC, Meechai A, Thammarongtham C, Laoteng K, Cheevadhanarak S, Nielsen J, Bhumiratana S: The genome-scale metabolic model iIN800 of Saccharomyces cerevisiae and its validation: a scaffold to query lipid metabolism. 

BMC Syst Biol 2008, 2:71. PubMed Abstract | BioMed Central Full Text | PubMed Central Full Text

  1. Edwards JS, Palsson BO: Systems properties of the Haemophilus influenzae Rd metabolic genotype. 

J biol chem 1999, 274(25):17410-17416. PubMed Abstract | Publisher Full Text

  1. Edwards JS, Palsson BO: The Escherichia coli MG1655 in silico metabolic genotype: Its definition, characteristics, and capabilities. 

Proc Natl Acad Sci USA 2000, 97(10):5528-5533. PubMed Abstract | Publisher Full Text | PubMed Central Full Text

  1. Thiele I, Vo TD, Price ND, Palsson B: An Expanded Metabolic Reconstruction of Helicobacter pylori (i IT341 GSM/GPR): An in silico genome-scale characterization of single and double deletion mutants. 

J Bacteriol 2005, 187(16):5818-5830. PubMed Abstract | Publisher Full Text | PubMed Central Full Text

  1. Vo TD, Greenberg HJ, Palsson BO: Reconstruction and functional characterization of the human mitochondrial metabolic network based on proteomic and biochemical data. 

J Biol Chem 2004, 279(38):39532-39540. PubMed Abstract | Publisher Full Text

  1. Reed JL, Vo TD, Schilling CH, Palsson BO: An expanded genome-scale model of Escherichia coli K-12 (iJR904 GSM/GPR). 

Genome Biology 2003, 4(9):R54.51-R54.12. BioMed Central Full Text

  1. Feist AM, Henry CS, Reed JL, Krummenacker M, Joyce AR, Karp PD, V H, Palsson BO: A genome-scale metabolic reconstruction for Escherichia coli K-12 MG1655 that accounts for 1261 ORFs and thermodynamic information. 

Molecular Systems Biology 2007, 3:121. PubMed Abstract | Publisher Full Text | PubMed Central Full Text

  1. Suthers PF, Dasika MS, Kumar VS, Denisov G, Glass JI, Maranas CD: A genome-scale metabolic reconstruction of Mycoplasma genitalium, iPS189. 

PLos Comp Biol 2009, 5(2):e1000285. Publisher Full Text

  1. Price ND, Reed JL, Palsson BO: Genome-scale models of microbial cells: evaluating the consequences of constraints. 

Nat Rev Microbiol 2004, 2(11):886-897. PubMed Abstract | Publisher Full Text

  1. Becker SA, Feist AM, Mo ML, Hannum G, Palsson BO, Herrgard MJ: Quantitative Prediction of Cellular Metabolism with Constraint-based Models: The COBRA Toolbox. 

Nature protocols 2007, 2(3):727-738. PubMed Abstract | Publisher Full Text

  1. Reed JL, Palsson BO: Genome-Scale In Silico Models of E. coli Have Multiple Equivalent Phenotypic States: Assessment of Correlated Reaction Subsets That Comprise Network States. 

Genome Res 2004, 14(9):1797-1805. PubMed Abstract | Publisher Full Text | PubMed Central Full Text

  1. Fong SS, Palsson BO: Metabolic gene deletion strains of Escherichia coli evolve to computationally predicted growth phenotypes. 

Nature Genetics 2004, 36(10):1056-1058. PubMed Abstract | Publisher Full Text

  1. Ibarra RU, Edwards JS, Palsson BO: Escherichia coli K-12 undergoes adaptive evolution to achieve in silico predicted optimal growth. 

Nature 2002, 420(6912):186-189. PubMed Abstract | Publisher Full Text

  1. Schellenberger J, Palsson BØ: Use of randomized sampling for analysis of metabolic networks. 

J Biol Chem 2009, 284(9):5457-5461. PubMed Abstract | Publisher Full Text

  1. Almaas E, Kovács B, Vicsek T, Oltvai ZN, Barabási AL: Global organization of metabolic fluxes in the bacterium Escherichia coli. 

Nature 2004, 427(6977):839-843. PubMed Abstract | Publisher Full Text

  1. Thiele I, Price ND, Vo TD, Palsson BO: Candidate metabolic network states in human mitochondria: Impact of diabetes, ischemia, and diet. 

J Biol Chem 2005, 280(12):11683-11695. PubMed Abstract | Publisher Full Text

  1. Kell DB: Metabolomics and systems biology: making sense of the soup. 

Curr Opin Microbiol 2004, 7(3):296-307. PubMed Abstract | Publisher Full Text

  1. Kell DB, Brown M, Davey HM, Dunn WB, Spasic I, Oliver SG: Metabolic footprinting and systems biology: the medium is the message. 

Nat Rev Microbiol 2005, 3(7):557-565. PubMed Abstract | Publisher Full Text

  1. Goodacre R, Vaidyanathan S, Dunn WB, Harrigan GG, Kell DB: Metabolomics by numbers: acquiring and understanding global metabolite data. 

Trends Biotechnol 2004, 22(5):245-252. PubMed Abstract | Publisher Full Text

  1. Lenz EM, Bright J, Wilson ID, Morgan SR, Nash AF: A 1H NMR-based metabonomic study of urine and plasma samples obtained from healthy human subjects. 

J Pharm Biomed Anal 2003, 33(5):1103-1115. PubMed Abstract | Publisher Full Text

  1. Allen J, Davey HM, Broadhurst D, Heald JK, Rowland JJ, Oliver SG, Kell DB: High-throughput classification of yeast mutants for functional genomics using metabolic footprinting. 

Nat Biotech 2003, 21(6):692-696. Publisher Full Text

  1. Nicholson JK, Connelly J, Lindon JC, Holmes E: Metabonomics: a platform for studying drug toxicity and gene function. 

Nat Rev Drug Discov 2002, 1(2):153-161. PubMed Abstract | Publisher Full Text

  1. Mortishire-Smith RJ, Skiles GL, Lawrence JW, Spence S, Nicholls AW, Johnson BA, Nicholson JK: Use of metabonomics to identify impaired fatty acid metabolism as the mechanism of a drug-induced toxicity. 

Chem Res Toxicol 2004, 17(2):165-173. PubMed Abstract | Publisher Full Text

  1. Sabatine MS, Liu E, Morrow DA, Heller E, McCarroll R, Wiegand R, Berriz GF, Roth FP, Gerszten RE: Metabolomic identification of novel biomarkers of myocardial ischemia. 

Circulation 2005, 112(25):3868-3875. PubMed Abstract | Publisher Full Text

  1. Cakir T, Efe C, Dikicioglu D, Hortaçsu AKB, Oliver SG: Flux balance analysis of a genome-scale yeast model constrained by exometabolomic data allows metabolic system identification of genetically different strains. 

Biotechnol Prog 2007, 23(2):320-326. PubMed Abstract | Publisher Full Text

  1. Bang JW, Crockford DJ, Holmes E, Pazos F, Sternberg MJ, Muggleton SH, Nicholson JK: Integrative top-down system metabolic modeling in experimental disease states via data-driven Bayesian methods. 

J Proteome Res 2008, 7(2):497-503. PubMed Abstract | Publisher Full Text

  1. Oliveira AP, Patil KR, Nielsen J: Architecture of transcriptional regulatory circuits is knitted over the topology of bio-molecular interaction networks. 

BMC Syst Biol 2008, 2:17. PubMed Abstract | BioMed Central Full Text | PubMed Central Full Text

  1. Villas-Boas SG, Moxley JF, Akesson M, Stephanopoulos G, Nielsen J: High-throughput metabolic state analysis: the missing link in integrated functional genomics of yeasts. 

Biochem J 2005, 388(Pt 2):669-677. PubMed Abstract | Publisher Full Text | PubMed Central Full Text

  1. Moreira dos Santos M, Thygesen G, Kötter P, Olsson L, Nielsen J: Aerobic physiology of redox-engineered Saccharomyces cerevisiae strains modified in the ammonium assimilation for increased NADPH availability. 

FEMS Yeast Res 2003, 4(1):59-68. PubMed Abstract | Publisher Full Text

  1. Hess DC, Lu W, Rabinowitz JD, Botstein D: Ammonium toxicity and potassium limitation in yeast. 

PLoS Biol 2006, 4(11):e351. PubMed Abstract | Publisher Full Text | PubMed Central Full Text

  1. Nissen TL, Schulze U, Nielsen J, Villadsen J: Flux distributions in anaerobic, glucose-limited continuous cultures of Saccharomyces cerevisiae. 

Microbiology 1997, 143(Pt 1):203-218. PubMed Abstract | Publisher Full Text

  1. Famili I, Forster J, Nielsen J, Palsson BO: Saccharomyces cerevisiae phenotypes can be predicted by using constraint-based analysis of a genome-scale reconstructed metabolic network. 

Proc Natl Acad Sci USA 2003, 100(23):13134-13139. PubMed Abstract | Publisher Full Text | PubMed Central Full Text

  1. Bonarius HPJ, Schmid G, Tramper J: Flux analysis of underdetermined metabolic networks: The quest for the missing constraints. 

Trends in Biotechnology 1997, 15(8):308-314. Publisher Full Text

  1. Edwards JS, Palsson BO: Metabolic flux balance analysis and the in silico analysis of Escherichia coli K-12 gene deletions. 

BMC Bioinformatics 2000, 1:1. PubMed Abstract | BioMed Central Full Text | PubMed Central Full Text

  1. Varma A, Palsson BO: Metabolic Flux Balancing: Basic concepts, Scientific and Practical Use. 

Nat Biotechnol 1994, 12:994-998. Publisher Full Text

  1. Segre D, Vitkup D, Church GM: Analysis of optimality in natural and perturbed metabolic networks. 

Proc Natl Acad Sci USA 2002, 99(23):15112-15117. PubMed Abstract | Publisher Full Text | PubMed Central Full Text

  1. Baldi P, Brunak S, Chauvin Y, Andersen CA, Nielsen H: Assessing the accuracy of prediction algorithms for classification: an overview. 

Bioinformatics 2000, 16(5):412-424. PubMed Abstract | Publisher Full Text

  1. Price ND, Schellenberger J, Palsson BO: Uniform Sampling of Steady State Flux Spaces: Means to Design Experiments and to Interpret Enzymopathies. 

Biophysical Journal 2004, 87(4):2172-2186. PubMed Abstract | Publisher Full Text | PubMed Central Full Text

  1. Price ND, Thiele I, Palsson BO: Candidate states of Helicobacter pylori’s genome-scale metabolic network upon application of “loop law” thermodynamic constraints. 

Biophysical J 2006, 90(11):3919-3928. Publisher Full Text

  1. Schuetz R, Kuepfer L, Sauer U: Systematic evaluation of objective functions for predicting intracellular fluxes in Escherichia coli. 

Mol Syst Biol 2007, 3:119. PubMed Abstract | Publisher Full Text | PubMed Central Full Text

  1. Patil KR, Nielsen J: Uncovering transcriptional regulation of metabolism by using metabolic network topology. 

Proc Natl Acad Sci USA 2005, 102(8):2685-2689. PubMed Abstract | Publisher Full Text | PubMed Central Full Text

  1. Shannon P, Markiel A, Ozier O, Baliga NS, Wang JT, Ramage D, Amin N, Schwikowski B, Ideker T: Cytoscape: a software environment for integrated models of biomolecular interaction networks. 

Genome Res 2003, 13(11):2498-2504. PubMed Abstract | Publisher Full Text | PubMed Central Full Text

  1. Herrgard MJ, Swainston N, Dobson P, Dunn WB, Arga KY, Arvas M, Bluthgen N, Borger S, Costenoble R, Heinemann M, et al.: A consensus yeast metabolic network reconstruction obtained from a community approach to systems biology. 

Nat Biotech 2008, 26:1155-1160. Publisher Full Text

  1. Forster J, Famili I, Fu PC, Palsson BO, Nielsen J: Genome-Scale Reconstruction of the Saccharomyces cerevisiae Metabolic Network. 

Genome Research 2003, 13(2):244-253. PubMed Abstract | Publisher Full Text | PubMed Central Full Text

  1. Reed JL, Patel TR, Chen KH, Joyce AR, Applebee MK, Herring CD, Bui OT, Knight EM, Fong SS, Palsson BO: Systems Approach to Genome Annotation: Prediction and Validation of Metabolic Functions. 

Proc Natl Acad Sci USA 2006, 103(46):17480-17484. PubMed Abstract | Publisher Full Text | PubMed Central Full Text

  1. Nissen TL, Kielland-Brandt MC, Nielsen J, Villadsen J: Optimization of ethanol production in Saccharomyces cerevisiae by metabolic engineering of the ammonium assimilation. 

Metab Eng 2000, 2(1):69-77. PubMed Abstract | Publisher Full Text

  1. Roca C, Nielsen J, Olsson L: Metabolic engineering of ammonium assimilation in xylose-fermenting Saccharomyces cerevisiae improves ethanol production. 

Appl Environ Microbiol 2003, 69(8):4732-4736. PubMed Abstract | Publisher Full Text | PubMed Central Full Text

  1. Hartman JL IV: Buffering of deoxyribonucleotide pool homeostasis by threonine metabolism. 

Proc Natl Acad Sci USA 2007, 104(28):11700-11705. PubMed Abstract | Publisher Full Text | PubMed Central Full Text

  1. Gelling CL, Piper MD, Hong SP, Kornfeld GD, Dawes IW: Identification of a novel one-carbon metabolism regulon in Saccharomyces cerevisiae. 

J Biol Chem 2004, 279(8):7072-7081. PubMed Abstract | Publisher Full Text

  1. Denis V, Daignan-Fornier B: Synthesis of glutamine, glycine and 10-formyl tetrahydrofolate is coregulated with purine biosynthesis in Saccharomyces cerevisiae. 

Mol Gen Genet 1998, 259(3):246-255. PubMed Abstract | Publisher Full Text

  1. Hjortmo S, Patring J, Andlid T: Growth rate and medium composition strongly affect folate content in Saccharomyces cerevisiae. 

Int J Food Microbiol 2008, 123(1–2):93-100. PubMed Abstract | Publisher Full Text

  1. Kussmann MRF, Affolter M: OMICS-driven biomarker discovery in nutrition and health. 

J Biotechnol 2006, 124(4):758-787. PubMed Abstract | Publisher Full Text

  1. Serkova NJ, Niemann CU: Pattern recognition and biomarker validation using quantitative 1H-NMR-based metabolomics. 

Expert Rev Mol Diagn 2006, 6(5):717-731. PubMed Abstract | Publisher Full Text

 

Read Full Post »

Massachusetts, the new Home for US Life Sciences of GE Healthcare

Reporter: Aviva Lev-Ari, PhD, RN

 

 

 

GE Healthcare to Open US Life Sciences HQ in Massachusetts

 

 

 

NEW YORK (GenomeWeb) – GE Healthcare Life Sciences will open a new US headquarters for GE Healthcare Life Sciences in Marlborough, Mass., according to a statement released today by the firm and the Massachusetts Life Sciences Center.

The 160,000 square-foot facility is expected to open in the spring of 2015. GE said that it will invest $21 million in the site, which will house 500 GE Healthcare Life Science employees, including more than 220 new jobs. It said that the currently unoccupied space will be transformed into state-of-the-art labs, customer application facilities, and office space, and it will complement GE Healthcare Life Sciences’ existing manufacturing facilities in Westborough, Mass.

The new headquarters will consolidate GE Healthcare Life Sciences’ US East Coast presence and include employees from across the

  • life sciences business, including
  • research,
  • bioprocessing,
  • medical imaging,
  • in vitro diagnostics, and
  • services.

“Our new facility in Massachusetts will position us for continued innovation and competition in such a fast-paced, innovative industry,” Kieran Murphy, president and CEO of GE Healthcare Life Sciences, said in the statement. “We will be close to industry-leading talent, customers, and world-class academic and medical institutions across all the industry sectors we serve, from

  • biotech and pharma, to
  • diagnostics and
  • medical devices.”

GE Healthcare Life Sciences generates around $4 billion in annual revenues from the sale of

  • research tools aimed at accelerating molecular medicine, as well as for
  • basic research of cells and proteins,
  • drug discovery,
  • cell therapies, and
  • regenerative medicine.

The Massachusetts Life Sciences Center is a $1 billion state-funded effort to support life sciences research, development, and commercialization in Massachusetts.

 

 

 

Read Full Post »

Human genome: UK to become world number 1 in DNA testing

Reporter: Aviva Lev-Ari, PhD, RN

 

 

 

£300 million investment that will transform how diseases are diagnosed and treated announced by the Prime Minister today.

 

 

The UK is set to become the world leader in ground-breaking genetic research into cancer and rare diseases, which will transform how diseases are diagnosed and treated, thanks to a package of investment worth more than £300 million, the Prime Minister will announce today.

The 4 year project will allow scientists to do pioneering new research to decode 100,000 human genomes – a patient’s personal DNA code. The landmark project is on a scale not seen anywhere else in the world.

It is part of the Prime Minister’s commitment to ensure the NHS as well as the UK’s research and life science sector is at the forefront of global advances in modern medicine.

Sequencing the genome of a person with cancer or someone with a rare disease will help scientists and doctors understand how disease works. The project has the potential to transform the future of health care, with new and better tests, drugs and treatment. It is expected to provide a lifeline to thousands of families affected by rare genetic diseases and cancers.

The Prime Minister has pledged that the UK will map 100,000 human genomes by 2017.

Now, as world leading research organisations join forces, the 100,000 Genomes Project has reached a major milestone in a package of new investment.

The Prime Minister is today unveiling a new partnership between Genomics England and the company Illumina that will deliver infrastructure and expertise to turn the plan into reality. As part of this, Illumina’s services for whole genome sequencing have been secured in a deal worth around £78 million.

In turn, Illumina will invest around £162 million into the work in England over 4 years, creating new knowledge and jobs in the field of genome sequencing. The investment will not only help the life science industry to thrive, but potentially create opportunities for talented UK scientists to lead the world. It will also pave the way for all NHS patients to eventually benefit from this exciting new technology.

This research puts the NHS at the forefront of scientific discovery. This is in line with the Prime Minister’s vision for the NHS to be the first mainstream health service in the world to offer genomic medicine as part of routine care.

Prime Minister David Cameron said:

This agreement will see the UK lead the world in genetic research within years. I am determined to do all I can to support the health and scientific sector to unlock the power of DNA, turning an important scientific breakthrough into something that will help deliver better tests, better drugs and above all better care for patients.

As our plan becomes a reality, I believe we will be able to transform how devastating diseases are diagnosed and treated in the NHS and across the world, while supporting our best scientists and life science businesses to discover the next wonder drug or breakthrough technology.

The Wellcome Trust has invested more than £1 billion in genomic research and has agreed to spend £27 million on a world class sequencing hub at its Genome Campus near Cambridge. This will house Genomics England’s operations alongside those of the internationally respected Sanger Institute.

The agreement will place Genomics England at the heart of one of the world’s most vibrant genomic science and technology clusters, and allow scientists to work with world-class researchers from the Sanger Institute, the European Bioinformatics Institute, and biotechnology companies based on the same site.

The Medical Research Council has also earmarked £24 million to help provide the computing power to make sure that the data of participants will be properly analysed, interpreted and made available to doctors and researchers securely.

NHS England has started the process of selecting the first NHS Genomics Medicine Centres. Successful centres will help to progress this ambitious project by inviting cancer and rare disease patients to take part to have their genome sequenced. NHS England has agreed to underwrite an NHS contribution of up to £20 million over the life of the project.

The cash injection – and new partnerships – will mean excellent progress can be made on the 100,000 Genomes Project. It is expected that around 40,000 NHS patients could benefit directly from the research. Ultimately this work will pave the way for genomics-based medicine to become part of everyday practice throughout the NHS.

Participation in the project will be based on consent, and people’s data will be strictly protected through Genomics England’s secure data services.

Life Sciences Minister George Freeman said:

Genomics England’s ground breaking partnership with Illumina confirms Britain’s position as a world leader in the field of genetic medicine. This project will help us map genomes on an unprecedented scale and bring better treatments to people with cancers and rare diseases for generations to come.

This project is also very important for the economy and the development of life sciences in this country – including creating valuable jobs in Cambridge and beyond.

Sir John Chisholm, Executive Chair of Genomics England said:

This is a real milestone in turning this ambitious project into what we always intended which is a world leading project capable of delivering immense benefit to current and future patients.

Jay Flatley, CEO of Illumina said:

This is a momentous day for the UK to push the boundaries of medical science and create the first comprehensive national program for genomic healthcare.

Illumina is committed to partnering with Genomics England as they look to implement vital changes in the way healthcare is practiced. This project confirms the UK as a leader in the global race to implement genomic technology and create a lasting legacy for patients, the NHS and the UK economy.

Jeremy Farrar, Director of the Wellcome Trust, said:

Understanding humanity’s genetic code is not only going to be fundamental to the medicine of the future. It is an essential part of medicine today. In rare congenital diseases, in cancer and in infections, genomic insights are already transforming diagnosis and treatment.

The Wellcome Trust has invested more than £1 billion in genome research that has built this understanding, including pivotal contributions to the Human Genome Project, the world-leading science of the Sanger Institute, and critical work in global health, medical ethics and public engagement. Genomics England will further exploit this knowledge for medical advances that help patients, within a robust ethical framework that relies on their informed consent, so supporting its efforts is a logical next step. We will be proud to host its sequencing hub alongside Sanger’s at our Hinxton genome campus, and to fund researchers who use its data to investigate disease.

Simon Stevens, NHS England’s Chief Executive said:

The NHS is now set to become one of the world’s ‘go-to’ health services for the development of innovative genomic tests and patient treatments, building on our long track record as the nation that brought humanity antibiotics, vaccines, modern nursing, hip replacements, IVF, CT scanners, and breakthrough discoveries from the circulation of blood to the existence of DNA.

The NHS’ comparative advantage in unlocking patient benefits from the new genomic revolution stems from our unique combination of a large and diverse population, with universal access to care, multi-year data that spans care settings, world-class medicine and science, and an NHS funding system that enables upstream investment in prevention and new ways of working, as demonstrated by this ground-breaking 100,000 Genomes Project.

Genetic disorders and genomics

Rare diseases are uncommon but there are between 5,000 to 8,000 known genetic disorders. Around 3 million people are affected by them, half of these are children.

When the Human Genome Project was undertaken in the early 1990s, it took 13 years and over £2 billion to sequence the first whole human genome. But now with advances in technology, the speed and cost of sequencing a human genome has fallen dramatically.

Our understanding of how to use this information has also increased. We still have a lot to learn, but these advances have opened up the potential use of genomics medicine within mainstream healthcare.

Genomics England is a wholly owned by the Department of Health. It was set up to deliver the 100,000 Genomes Project. This flagship project will sequence 100,000 whole genomes from NHS patients by 2017.

Genomics England has 4 main aims:

  • to bring benefit to patients
  • to create an ethical and transparent programme based on consent
  • to enable new scientific discovery and medical insights
  • to kickstart the development of a UK genomics industry

The project is focusing on patients with rare diseases, and their families, as well as patients with common cancers. The project is currently in its pilot phase and the main project begins in 2015.

SOURCE

https://www.gov.uk/government/news/human-genome-uk-to-become-world-number-1-in-dna-testing

 

Read Full Post »

« Newer Posts - Older Posts »