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Gene Provides A Link Between Lower Birth Weight And Type 2 Diabetes

Story Summary: One of the variants, in a gene called ADCY5, has recently been linked with susceptibility to type 2 diabetes. This is a key finding because it has long been known that lower weight babies are more at risk of type 2 diabetes in adulthood, but it was not clear why. The combined effects of the two identified gene regions are quite substantial. This effect is equivalent to the birth weight reduction caused by a mother smoking four to five cigarettes per day in pregnancy. These discoveries provide important clues to the mechanisms responsible for the control of growth in early life and may lead us to a better understanding of how to manage growth problems during pregnancy. Dorret Boomsma, Professor in the Department of Biological Psychology at Vrije University, Amsterdam, commented: These findings illustrate that genetic research can help resolve the complex chain of causality underlying the association between early life course and later health outcomes. Dr Iain Frame, Director of Research at leading health charity Diabetes UK, said: This research adds exciting further evidence supporting the idea that low birth weight and Type 2 diabetes are linked in some cases and will no doubt provide important clues about the development of Type 2 diabetes in the future. It is another excellent example of the importance of genetic studies in helping us understand complex scientific issues and hopefully produce new methods to prevent conditions like Type 2 diabetes developing. Please send any medical news or health news press releases to: These are the most read articles from this news category for the last 6 months: Sugar Sweetened Carbonated Drinks Linked To Pancreatic Cancer08 Feb 2010A new study found that people who consumed two or more soft drinks (defined as sugar-sweetened carbonated beverages) a week, had a nearly two-fold higher risk of developing pancreatic cancer; the researchers suggested. Treating Diabetic HypertensionIts long been known that diabetes often goes hand-in-hand with high blood pressure. But many of the 11 million Americans that have both conditions dont get the treatment they need. Keeping a Personal Medical RecordMedical information is usually scattered in many different places. Keeping a Personal Medical RecordMedical information is usually scattered in many different places….Read the Full Story

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  1. Gene links lower birth weight and type 2 diabetes
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Recommendation and review posted by Bethany Smith

Indiana University Biochemistry Major Commits Suicide with Hydrogen Sulfide

Almost exactly one month ago, I posted on a recent duo of suicides in my area by hydrogen sulfide (MSDS) – a toxic gas generated by mixing together certain easy-to-obtain household chemicals.

Today, I saw a story out of my home state of Indiana that a 21 year old junior biochemistry major from Indiana Univeristy has taken his life using this same hydrogen sulfide method.  Gregory Willoughby apparently worked as an undergraduate research assistant in the Cognitive Neuroimaging Laboratory in the Department of Psychological and Brain Sciences.

In this instance, Gregory Willoughby barricaded himself in the closet of his dorm room on or about April 4.  He left notes on the closet door warning first responders that hydrogen sulfide gas was present.  Several days later, his suitemate began notifying physical plant of a strange odor in the area, and it took several visits by various facilities management groups over several days before they decided to enter Willoughby’s room.  Police had to break down the door as it was barricaded from the inside by tape and furniture.  By this time, the gas had thoroughly dissipated and no first responders complained of injuries as a result of residual hydrogen sulfide.

I’ve talked about the dangers of hydrogen sulfide before.  Perhaps its most dangerous symptom is olfactory fatigue.  Low concentrations of hydrogen sulfide smell like rotten eggs.  Prolonged exposure leads to olfactory fatigue – you lose the ability to detect the odor of hydrogen sulfide.  You no longer smell rotten eggs, so you think the threat has passed.  Instead, you are still inhaling potentially lethal levels of the toxic gas.  High concentrations of hydrogen sulfide can lead to instantaneous unconsciousness and near immediate death.

Hydrogen sulfide suicide is also potentially dangerous to first responders and innocent bystanders.  In several instances in several countries, first responders have been hospitalized for hydrogen sulfide inhalation after trying to rescue victims who do not leave notes warning the first responders of the danger.  Additionally, one story notes a Japanese teen who used hydrogen sulfide in an apartment building and sickened almost 100 other residents as the gas spread throughout the complex.  It is very fortunate that did not happen here, given the close living quarters of the typical college dorm.

I talked last time about the thin line between responsible and irresponsible use of chemicals found both around the house and especially in the chemistry lab.  We don’t – and probably won’t – know if this student made use of his chemistry knowledge in making his final decisions.  All we can do at this point is remind readers – chemists and non-chemists alike – to take seriously the responsibility inherent in handling chemicals.  It’s all too easy for bad things to happen (unintentional as well as intentional) when playing with chemicals.

Again, I want to take this opportunity to encourage anyone struggling with thoughts of suicide – especially anyone who came to this page today for that reason – to call 911, your local emergency response number, or any of the numerous national and local suicide hotlines available.  Do it now.  I will also post the same disclaimer as last time: the comments of this post will be closely monitored.  Anyone attempting to post recipes for the generation of hydrogen sulfide gas will have their comments removed immediately.

Previous at Chemistry-Blog:

Helpful information for first responders and health care providers:

  • Very detailed CDC bulletin on hydrogen sulfide with sections for on-site medical care as well as information for long-term care
  • St. Louis University bulletin on the dangers of and treatment for hydrogen sulfide inhalation
  • Shelby County (KY) EMS presentation on hydrogen sulfide

Stories about the IU suicide:


Recommendation and review posted by Bethany Smith

Rosetta Genomics to Present Multiple Posters at the American Association of Cancer Researchas (AACR) 101st Annual Meeting

Story Summary: (NASDAQ: ROSG), a leading developer and provider of microRNA-based molecular diagnostic tests, announced today it will present multiple posters at the upcoming American Association of Cancer Researchs (AACR) 101stAnnual Meeting to be held at the Walter E. Washington Convention Center in Washington, D. C. from April 17-21, 2010. microRNAs as a powerful diagnostic tool for the differential diagnosis of kidney tumorsThe posters will include data on Rosetta Genomics unique microRNA-based technologies and how they may be applied to develop objective and standardized diagnostic tests for cancer. It has been suggested that their small size (19-21 nucleotides) enables them to remain intact in FFPE blocks, as opposed to messenger RNA (mRNA), which tends to degrade rapidly. miRview squamousaccurately identifies the squamous subtype of NSCLC, which carries an increased risk of severe or fatal internal bleeding and poor response to treatment for certain targeted therapies. This test can be used to rule out mesothelioma in patients diagnosed with a tumor in the lung or pleura, who may have been exposed to asbestos in the past. miRview tests are designed to provide objective diagnostic data; it is the treating physicians responsibility to diagnose and administer the appropriate treatment. The companys tests are now being offered through distributors around the globe. The companys first three microRNA-based tests, miRview squamous, miRview mets and miRview meso, are commercially available through its Philadelphia-based CAP accredited, CLIA-certified lab. Rosetta Genomics is the 2008 winner of the Wall Street Journals Technology Innovation Awards in the medical/biotech category. To learn more, please visit www. rosettagenomics. Various statements in this release concerning Rosettas future expectations, plans and prospects, including without limitation, statements relating to the role of microRNAs in human physiology and disease, and the potential of microRNAs in the diagnosis and treatment of disease, constitute forward-looking statements for the purposes of the safe harbor provisions under The Private Securities Litigation Reform Act of 1995. Various statements in this release concerning Rosettas future expectations, plans and prospects, including without limitation, statements relating to the role of microRNAs in human physiology and disease, and the potential of microRNAs in the diagnosis and treatment of disease, constitute forward-looking statements for the purposes of the safe harbor provisions under The Private Securities Litigation Reform Act of 1995. In addition, any forward-looking statements represent Rosettas views only as of the date of this release and should not be relied upon as representing its views as of any subsequent date. In addition, any forward-looking statements represent Rosettas views only as of the date of this release and should not be relied upon as representing its views as of any subsequent date….Read the Full Story

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  2. Rosetta Genomics Announces Publication of the Development and Validation Process of miRviewaC/ mets in Modern Pathology
  3. Rosetta Genomics Strengthens MicroRNA Intellectual Property Position with Receipt of Additional Patent


Recommendation and review posted by Bethany Smith

RXi Pharmaceuticals Announces Formation of microRNA Research Collaboration with Mirna Therapeutics

Story Summary: RXi Pharmaceuticals Announces Formation of microRNA Research Collaboration with Mirna TherapeuticsWORCESTER, Mass. –(BUSINESS WIRE)–RXi Pharmaceuticals Corporation (Nasdaq: RXII), a biopharmaceutical company pursuing the development and commercialization of proprietary therapeutics based on RNA interference (RNAi), announced today that it has entered into a research collaboration with Mirna Therapeutics (Austin, TX), to determine the utility of combining RXis proprietary rxRNA technology with Mirnas microRNA mimics as potential therapeutics in oncology. The parties will each contribute technology and resources to the collaboration to generate and evaluate novel microRNA compounds. Misregulation of microRNAs has been recently demonstrated to be associated with various human disorders, including cancer, cardiovascular, inflammation and metabolic diseases. These include rxRNAori, rxRNAsolo, and sd-rxRNA (or self delivering RNA), which are distinct from, and potentially convey significant advantages over classic siRNAs. The Company has a substantial body of pending intellectual property around miRNAs developed by its own scientists as well as in-licensed from other institutions. Mirnas IP portfolio contains >300 miRNAs with applications in oncology and other diseases. Oncology-directed miRNAs include those that are key tumor suppressors in cancer, such as miR-34 and let-7 that have proven to block tumor growth in a number of different pre-clinical animal studies. Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Actual results may differ materially from those contemplated by these forward-looking statements….Read the Full Story

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  2. Mirna Therapeutics Announces Dr. Frank Slack as Scientific Advisor
  3. Mirna Therapeutics Announces $5 Million Award from Texas Emerging Technology Fund


Recommendation and review posted by Bethany Smith

New probe technology illuminates the activation of light-sensing cells

Story Summary: Scientists designed genetically encoded probes to examine the workings of the visual pigment rhodopsin (pictured above) with infrared spectroscopy. The probes revealed that light causes changes in the protein much faster than previously believed. Ultimately, Charles Darwins endless forms most beautiful and most wonderful can be boiled down to a scant 20 or so amino acids, the basic building blocks of life. The experiments in Nature yield new findings about rhodopsin, the light sensitive cell receptorthat is crucial to dim-light vision, showing that light causes changes in the structure of the protein much faster than previously believed on the order of tens of microseconds rather than milliseconds. Thomas P. Sakmar, head of the Laboratory of Molecular Biology and Biochemistry, and postdoctoral associate Shixin Ye, worked with colleagues in Germany, England, Spain and Switzerland, to combine a variety of genetic engineering techniques to introduce an amino acid, azidoF, a relative of phenylalanine, into several points on rhodopsin. The long-term goal is to label receptors in live cells and do single molecule fluorescent studies, says Sakmar, who is Richard M. and Isabel P. Furlaud Professor. Similar approaches have been successfully used in bacteria, but last year, the researchers first showed that their method could be applied to mammalian cells with such specificity and efficiency, the scientists say. Extensive genetic screening allowed the team to target the azido probes efficiently. They then confirmed the presence of azido with fourier transform infrared (FTIR) difference spectroscopy, which measures stretching frequencies of the atoms in the amino acids that make up a protein. What you want is a probe that doesnt perturb the protein and one that can tell you something about its structure and function, Sakmar says. The scientists looked at regions of the GPCR, in this case rhodopsin, which are broadly shared or conserved among related receptors. We have found that the activation process that begins moving the helices apart the earliest stage of signal transduction is faster than predicted, maybe an order of magnitude faster, Sakmar says. He hopes to use the technique to identify the mechanical components of the switch machinery that activate the receptors, he says, which are involved in a wide range of diseases and are the targets of many pharmaceuticals. com) — To say our genes are resourceful is a gross understatement. Researchers at Rockefeller University have now created a tiny tool, more than 10,000 times smaller than the diameter of a human . . . com) — Scientists have detailed the active form of a protein which they hope will enhance our understanding of the molecular mechanisms of vision, and advance drug design. In your opinion, what is the most difficult activity, or concept in the book to learn. Buffer solutionsApr 09, 2010 First off how exactly do weak acid strong base reactions work. When an inert gas is added to an equilibrium reaction of gases. Not everyone gets these diseases, because the body has multiple . . ….Read the Full Story

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Recommendation and review posted by Bethany Smith

Parkinson Vaccination, Good Start To The Spring For AFFiRiS AG

Story Summary: The vaccine, known as PD01, has undergone numerous preclinical tests which have confirmed its principle of action (Proof of Concept). The company is now starting to prepare for clinical trials of the vaccine which are planned to commence at the beginning of 2011. Referring to the successful completion of the preclinical development phase, Dr Walter Schmidt, director and co-founder of AFFiRiS AG stated: We have had PD01 evaluated in various preclinical systems. However, it must be remembered that alpha-syn is an endogenous protein belonging to a family of proteins whose members have extensive sequence homologies. For example, as a so-called neuroprotective factor, the member of this protein family known as beta-syn is important for a healthy body. A vaccination aimed at reducing alpha-syn must therefore ensure that the triggered antibody immune response exclusively addresses alpha-syn, but leaves beta-syn untouched. On the basis of this technology AFFiRiS AG has already announced the development of two vaccines for Alzheimers, one for atherosclerosis and as recently published a vaccine against hypertension; that is to say conditions that affect hundreds of millions of people. The contract envisages ( milestone-dependent) payments of up to 430 million Euros. A payment of 10 million Euros was made in October 2009 as a result of the positive completion of two clinical phase I studies. A payment of 10 million Euros was made in October 2009 as a result of the positive completion of two clinical phase I studies. AFFiRiS currently employs 65 highly-qualified staff at the St Marx campus premises in Vienna, AustriaSource: AFFiRiS AG Any medical information published on this website is not intended as a substitute for informed medical advice and you should not take any action before consulting with a health care professional. Contact Our News EditorsFor any corrections of factual information, or to contact the editors please use our feedback form. Contact Our News EditorsFor any corrections of factual information, or to contact the editors please use our feedback form….Read the Full Story

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  3. U.S. flu vaccination off to slow start, CDC says


Recommendation and review posted by Bethany Smith

News: Nature News Special: The Human Genome at Ten

Story Summary: In this special, asks whether the sequence has delivered the insights that were anticipated, and what lessons have been learned from the first post-genome decade. Human genetics in 2010 looks infinitely more complex, and questions about how to make sense of the explosion in biological data are only becoming more pressing. Erika Check Hayden asks if theres a way to make life simpler. 31 March 2010Bursting the genomics bubbleThe Human Genome Project attracted investment beyond what a rational analysis would have predicted. There are pros and cons to that, says Philip Ball. 31 March 2010Books & ArtsA reality check for personalized medicineBringing genetic information into health care is welcome but its utility in the clinic needs to be rigorously reviewed, caution Muin J. Khoury, James Evans and Wylie Burke. Listen in to the Podcast as researcher Jan Ellenberg discusses his time-lapse video survey of over 20,000 genes. Elsewhere in NatureHuman genomics: The genome finishersDedicated scientists are working hard to close the gaps, fix the errors and finally complete the human genome sequence. Personal genomes: The case of the missing heritabilityWhen scientists opened up the human genome, they expected to find the genetic components of common traits and diseases….Read the Full Story

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Recommendation and review posted by Bethany Smith

Selected Update: Innate immunity: Detailed detection

Story Summary: Innate immunity: Detailed detectionTwo recent papers have revealed further details of how RNA viruses engage the host innate immune system. Two recent papers have revealed further details of how RNA viruses such as West Nile virus (WNV) and influenza virus engage the host innate immune system. Recognition of RNA virus infection by pattern recognition receptors (PRRs) triggers an antiviral signalling cascade that culminates in the induction of type I interferons (IFNs) and a proinflammatory response. Progression of the infection was followed, and the authors found that IPS1 is involved in restricting the tissue tropism of WNV and in the entry of this neurotropic virus into the central nervous system. Moreover, the numbers of circulating regulatory T cells, which can depress the inflammatory response, were decreased in the absence of IPS1. Sheilagh MolloyReferencesSuthar, M. S. et al. IPS-1 is essential for the control of West Nile virus infection and immunity….Read the Full Story

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Recommendation and review posted by Bethany Smith

Selected Update: Signalling: Fly strike!

Story Summary: Ex stabilizes the interaction between Mer and Kibra, but Ex is not essential for this interaction. In the presence of Kibra, Mer and Ex the phosphorylation of Wts by Hpo is increased. Co-immunoprecipitation experiments by Yu and colleagues showed that Kibra binds to Sav and that this complex is also bound by Hpo. Previously published yeast two-hybrid data indicate that Mer and Sav and Ex and Hpo also interact, and this was verified by Yu and colleagues. Moreover, they found that like Ex and Mer, Kibra is a Yki transcriptional target, suggesting the existence of a negative feedback loop. Results from Baumgartner and colleagues indicate subtle differences between the function of Kibra and Ex. They also suggest that Kibra might function independently of Mer to inhibit Yki. Initial results indicate that the human orthologue of Kibra (KIBRA) also interacts with NF2, but not FRMD6 (the proposed orthologue of Ex). Whether KIBRA, like NF2, is a tumour suppressor in mammalian cells and is mutated in human tumours is yet to be assessed….Read the Full Story

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Recommendation and review posted by Bethany Smith

Genetic Kidney Diseases: Single Gene Defects Represent Opportunities For Diagnosis And Treatment

Story Summary: It discusses genetic kidney diseases, and highlights that lately many such diseases have been shown to be single gene defects. According to the author, knowledge of a disease-causing mutation in a single-gene disorder represents one of the strongest diagnostic examples of personalised medicine. Single-gene defect kidney diseases are grouped according to main diagnostic features. 90 percent of ADPKD cases can now be diagnosed by mutation testing. This is helpful for clinical decision making, especially in living-related donor transplantation. * Renal tubular disorders affect reuptake of water, salt, and sugars from the glomerular filtrate which is the fluid in the kidney post-filtration. For instance, sodium reabsorption abnormalities cause Bartters syndrome leading to loss of salt from the kidneys. Congenital abnormalities of kidney and urinary tract are responsible for nearly 50 percent of cases of end-stage kidney disease in children. A wide range of conditions can be caused by such abnormalities. The author explain: An important feature of monogenic diseases is that the mutation represents the primary cause of the disease, and therefore provides opportunities for diagnosis, treatment, and insights into pathogenesis . . . New drugs can be developed – eg, by analysis of animals in which the gene of interest has been deactivated. Disease-causing genes of recessive single-gene disorders are more uncommon than polygenic disorders. They manifest early in life and cause disease in almost every individual with the genetic defect. This approach will further help molecular genetic diagnosis, enhance our understanding of disease mechanisms, and thus enable the development of new targeted drugs. Contact Our News EditorsFor any corrections of factual information, or to contact the editors please use our feedback form. And theres help out there for those who are ready to reap those benefits….Read the Full Story

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Recommendation and review posted by Bethany Smith

Selected Update: Lipid metabolism: Orm SPOTS demand

Story Summary: Breslow et al. investigated Orm function in the yeast Saccharomyces cerevisiae, using a genetic analysis that compares the phenotypic profiles of double mutants to identify pathways in which the individual mutant genes function. This suggests that Orm proteins negatively regulate sphingolipid biosynthesis, which was confirmed by global lipidomic analysis: deletion of Orm1 and Orm2 causes higher flux throughout the sphingolipid biosynthetic pathway. A novel protein complex, the serine palmitoyltransferase, Orm1 and Orm2, Tsc3 and Sac1 (SPOTS) complex, was identified using binding assays. The identification of several phosphorylated Orm species, and the use of the serine palmitoyltransferase inhibitor myriocin, provided further mechanistic clues. Comparisons of growth rate and metabolite levels between Orm1- and Orm2-deleted and wild-type yeast, with or without myriocin, indicated that cells use progressive inactivation of Orm1 and Orm2 to maintain sphingolipid output as serine palmitoyltransferase activity is inhibited. Phosphomutant Orm1 and Orm2 were able to interact with each other and with serine palmitoyltransferase, but blocked the normal regulation of SPOTS oligomerization and disrupted sphingolipid homeostasis. The authors suggest that the SPOTS complex dynamically coordinates the localization and activity of sphingolipid metabolism enzymes in response to cellular demand. Now the focus turns to whether misregulation of this axis can directly cause asthma….Read the Full Story

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Recommendation and review posted by Bethany Smith

Harnessing The Power Of Plants To Fight Hemophilia

Story Summary: And the very treatments that can help can also put patients lives at risk. The standard treatment is infusion with an expensively produced protein that helps the blood to clot. The approach also has the potential for use with other conditions such as food allergiesand autoimmune diseases. The two forms of the disease – hemophilia A and B – are associated with the absence of proteins called factor VIII and factor IX, respectively. Hemophilia treatment consists of infusing the missing protein into a patients blood. But in 25 percent of patients, the immune system rejects the therapy and makes inhibitors that stop the clotting factor from taking effect. In hemophilia B, up to 4 percent of patients develop inhibitors to the protein therapy and many develop severe systemic allergic reactions, called anaphylaxis, which can be life-threatening. D. , an associate professor of medicine at the University of Leuven in Belgium, and president of the European Society of Gene Cell Therapy. To help patients tolerate therapy, doctors try to exhaust patients immune systems by administering the therapeutic protein intravenously at frequent intervals and for long periods until the body no longer responds by producing inhibitors. While that brute force approach works for hemophilia A, it often doesnt for hemophilia B, in which patients risk death from anaphylactic shock if exposed to the protein therapy. To find a new, gentler approach to developing tolerance, Herzog teamed with Henry Daniell, Ph. D. , a Pegasus professor and University Board of Trustees Chair in the College of Medicine at the University of Central Florida, who has spent the last two decades developing transgenic plants for producing and delivering oral vaccines and immune-tolerant therapies. To maximize the amount of protein produced, they inserted thousands of copies of the genes into chloroplasts – the energy-producing centers of plants – using a gene gun. D. , and Babak Moghimi, M. D. , fed the encapsulated protein to hemophilic mice for an extended period. Surrounded by the hardy plant cell walls, the protein was protected from digestive acids and enzymes while traveling through the stomach. I think this is a milestone – nobody has previously achieved such levels of robust immune tolerance by any means using a noninvasive procedure. I think this is a milestone – nobody has previously achieved such levels of robust immune tolerance by any means using a noninvasive procedure. For more information, please read our terms and conditions….Read the Full Story

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Recommendation and review posted by Bethany Smith

Researchers Decode Fungal Genome With New Technique

Story Summary: By doing so, they have gained insights into the way that fungi live and evolve. Sordaria macrospora is able to cope with multiple copies of the same genes, which lead to cell death in other fungi due to immune-like reactions. 5 to 6 million species which form their own kingdom alongside plants and animals, the importance of fungi can hardly be overestimated: some grow on dead organic matter, help in the decomposition of plant and animal waste products and thus contribute to the global carbon cycle. For this reason, genome sequences always have to be assembled from many individual sequences. The new techniques deliver considerably more sequences than Sanger sequencing in the same time, however the individual reads are considerably shorter (36 to 450 base pairs). In order to be able to piece together these short reads to form a genome, newly developed programs on powerful computers are required. D. students and thus provide up to date practical courses with a focus on bioinformatics explained Prof. Kuck. How Sordaria macrospora copes with several of these gene copies in one genome is still unclear. Furthermore, the genome of Sordaria macrospora contains several genes that were probably taken over by means of horizontal gene transfer from another, only very distantly related fungus, and which expand the biochemical repertoire of Sordaria macrospora. International cooperation and various sponsorsA collaboration of researchers from eight universities in four countries, led by Dr. Minou Nowrousian and Prof. Dr. Ulrich Kuck (Department of General and Molecular Botany) made the implementation of this project possible. Thus, the DNA for the sequencing was isolated in Bochum, and DNA sequencing in the USA and Germany led to the sequence data, from which the corresponding genome sequence was assembled. The project was made possible by funding from the German Research Foundation (DFG) within the framework of the SFB480 (chair Ulrich Kuck), by individual project funding from the DFG, as well as funding from the Protein Research Department (PRD, chair Klaus Gerwert). The project was made possible by funding from the German Research Foundation (DFG) within the framework of the SFB480 (chair Ulrich Kuck), by individual project funding from the DFG, as well as funding from the Protein Research Department (PRD, chair Klaus Gerwert). Reference: Nowrousian M, Stajich JE, Chu M, Engh I, Espagne E, Halliday K, Kamerewerd J, Kempken F, Knab B, Kuo HC, Osiewacz HD, Poggeler S, Read ND, Seiler S, Smith KM, Zickler D, Kuck U, Freitag M (2010). De novo assembly of a 40 Mb eukaryotic genome from short sequence reads: Sordaria macrospora, a model organism for fungal morphogenesis. De novo assembly of a 40 Mb eukaryotic genome from short sequence reads: Sordaria macrospora, a model organism for fungal morphogenesis. PLoS Genetics 6 (4): e1000891….Read the Full Story

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Recommendation and review posted by Bethany Smith

Common Copy Number Variations In Genes Unlikely To Contribute Significantly Toward Common Diseases

Story Summary: The research, funded by the Wellcome Trust, is published online in the journal Nature. In 2007, the Wellcome Trust Case Control Consortium (WTCCC) published the results of the largest ever study of the genetics of common diseases, revealing for the first time a number of genes which were found to increase the risk of developing certain diseases. These mainly occur when copies of the genome are passed down from parent to child. This is certainly the case for the diseases that we studied, but is likely to be the case for other common diseases, too. There was a strong view that CNVs would be important for common disease, and that they would explain much of the missing heritability, says Professor Peter Donnelly from the University of Oxford, who chairs the WTCCC. The remaining genetic contribution to disease will likely comprise rare CNVs and rare SNPs, and epigenetic factors, as well as many more common gene variants and, to a lesser extent, common CNVs. A study funded recently by the National Institutes of Health in the US and by the Wellcome Trust, and led by Professor Mark McCarthy from the University of Oxford, will search for a contribution of rarer SNPs towards type 2 diabetes. Source: Craig Brierley Wellcome Trust Any medical information published on this website is not intended as a substitute for informed medical advice and you should not take any action before consulting with a health care professional. Treating Diabetic HypertensionIts long been known that diabetes often goes hand-in-hand with high blood pressure. Treating Diabetic HypertensionIts long been known that diabetes often goes hand-in-hand with high blood pressure. Join experts as they discuss why people with diabetes also need to focus on controlling their blood pressure. Join experts as they discuss why people with diabetes also need to focus on controlling their blood pressure. Keeping a Personal Medical RecordMedical information is usually scattered in many different places. Keeping a Personal Medical RecordMedical information is usually scattered in many different places. Keeping a Personal Medical RecordMedical information is usually scattered in many different places….Read the Full Story

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Recommendation and review posted by Bethany Smith

Gene change in cannibals reveals evolution in action

Story Summary: Its a striking and timely example, given the 150th anniversary of the publication of Darwins Origin of Species, he says. These prions become malformed and in turn make all healthy prions they encounter malformed as well, in a chain reaction that ultimately destroys brains by turning them into a spongy mush. The change in the gene comes at a position called codon 127. Instead, we found the complete opposite, which is that it was protective. When the kuru epidemic peaked about 100 years back, there were maybe a couple of families who found that they and their children survived while all their neighbours were dying, and so on to todays generation, who still carry the gene, says Mead. None of the 152 victims of kuru had the protective gene, suggesting that it provides almost complete resistance to the disease. But its not yet known whether the variant protects against other prion diseases. The protective variant at codon 129 is called MV, standing for the amino acids methionine and valine. All deaths except one from vCJD have so far been in people with the MM variant, suggesting that they are specially at risk. If you would like to reuse any contentfrom New Scientist, either in print or online, please contact the syndicationdepartment first for permission. If you think a particular comment breaks these rules then please use the Report link in that comment to report it to us. Fore tribe women in 1957 suffering from kuru….Read the Full Story

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Recommendation and review posted by Bethany Smith

Gene that changes the brainas response to stress identified

Story Summary: Gene That Changes the Brains Response to Stress Identified Stress can literally warp your brain, reshaping some brain structures that help cope with lifes pressures. In the short term, the stress response can be helpful — i. e. , fight or flight — but over time it leads to a wear and tear that can cause disease in both the brain and other parts of the body. The researchers, from Rockefeller University and Weill Cornell Medical College, found that these mice had brains resembling those of normal mice after extended stress. If researchers can find a way to deplete or supplement BDNF in adult mice, they may be able to answer the question of when in development, or even in adult life, it has the greatest impact. What were seeing is that there may be a developmental window for BDNFs role, or also that there may be a floor and a ceiling for the right amount of the protein that helps enable adaptive plasticity, McEwen says. Story Source:Adapted from materials provided by . Journal Reference:Magarinos et al. Effect of brain-derived neurotrophic factor haploinsufficiency on stress-induced remodeling of hippocampal neurons. Tracings of neurons from mice with different levels of BDNF show that a short supply of the protein causes relatively shrunken neurons (right) in some parts of the hippocampus. Or view hourly updated newsfeeds in your RSS reader:FeedbackTell us what you think of the new ScienceDaily — we welcome both positive and negative comments….Read the Full Story

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Key protein aids in DNA repair

Story Summary: Not everyone gets these diseases, because the body has multiple mechanisms for repairing the damage caused to DNA by aging, the environment and other human behaviors — but the mechanisms behind certain kinds of DNA repair have not been well-understood. In a paper published in the journal Nature, researchers at the University of North Carolina at Chapel Hills Lineberger Comprehensive Cancer Center have shown that a particular protein — called Ku — is particularly adept at healing damaged strands of DNA. These rough ends get dirty — making them harder to repair. This protein actually heals at the nucleotide level as well as the level of the chromosome, says Ramsden, comparing its action to washing and disinfecting a cut before trying to sew it up to promote healing. The team is hopeful that the discovery of this mechanism for DNA repair may lead to a target for treatment of age-related diseases caused by chromosome damage in the future. Journal Reference:Roberts et al. Ku is a 5-dRP/AP lyase that excises nucleotide damage near broken ends….Read the Full Story

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Meet X-woman: a possible new species of human

Story Summary: The discovery of 17,000-year-old Homo floresiensis- the hobbit – dispelled that notion, but many anthropologists look on H. floresiensis as an anomaly, isolated from the human-Neanderthal hegemony on the mainland. Paabo and colleague Johannes Krause discovered the specimen in the Denisova cave in southern Siberia, and sequenced DNA from its mitochondria. It is impossible to say what the creature would have looked like based on a single pinkie bone, so Paabo and Krause are hesitant to call it a new species. The split seems too recent for X-woman to be related to Homo erectus, which began moving out of Africa around 2 million years ago. To talk about one or two expansions from a particular region doesnt make any biological sense, he says. There were probably hundreds, thousands of migrations out of Africa. That project is already under way, and the first results should come within months. Paabos team will likely want X-womans genome to answer the same questions they are asking of the Neanderthal genome, which is due for publication soon. If X-womans sequence is complete enough, they will be able to determine if it possesses the same change – and potentially the capability for language. Neanderthal neighboursGiven the close proximity of Neanderthal remains dated to the same time and artefacts that appear to be human, interbreeding is not unlikely, Paabo says. Having in about the same time window three different forms of hominids, increases the potential of all types of interactions, including genetic. X-womans mitochondrial DNA begins to paint a picture of what she was like, if only a blurry one. Finlayson would love to link X-woman to other bones, and even stone technologies, though the chances of doing this may be slim. But he, too, is prepared for the possibility that such bones may never turn up. New Scientist does not own rights to photos, but there are a variety of licensing optionsavailable for use of articles and graphics we own the copyright to. Species being the modern taxonomic concept that is referred to as new, the human was just another human at the time. If you think a particular comment breaks these rules then please use the Report link in that comment to report it to us. If you think a particular comment breaks these rules then please use the Report link in that comment to report it to us….Read the Full Story

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The assembly of protein strands into fibrils

Story Summary: The very peculiar property of these proteins lies in fact that they can self assemble into complex ribbon-like twisted fibers. Researchers at ETH Zurich, EPF Lausanne and University of Fribourg have teamed up to take Atomic Force Microscopy images of the fibers and to analyze them using concepts from polymer physics and theoretical modeling. The structure of the Amyloid fibers as it was unveiled by the experiments, surprised the researchers. These latter fibers have properties (elasticity, solubility, etc) favorable for food texturing or to produce special structures. The milk protein beta-lactoglubulin studied by Mezzenga and his colleagues is at the beginning spherical and by a heat treatment accompanied by acid environment it aggregates into the filamentous structures. Beta-lactoglobulin is an important component of the milk serum and therefore very relevant for food industry. These human fibers, although made out of a very different proteins, are also ribbon-like and twisted and their assembly into long aggregates is presently under intense scrutiny….Read the Full Story

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Picking our brains: What are mirror neurons?

Story Summary: Numerous studies have shown that people with more activity in their mirror systems seem to be better at understanding other peoples emotions. Nevertheless, some researchers question whether mirror systems can take sole responsibility for empathy. Understanding someone elses actions and empathy are huge cognitive achievements, says Cecilia Heyes, a psychologist at the University of Oxford. So to suggest that theres one discrete neural system responsible for it doesnt make sense. The results are due to be published this month in Current Biology. If you would like to reuse any contentfrom New Scientist, either in print or online, please contact the syndicationdepartment first for permission. New Scientist does not own rights to photos, but there are a variety of licensing optionsavailable for use of articles and graphics we own the copyright to. All comments should respect the New Scientist House Rules. If you think a particular comment breaks these rules then please use the Report link in that comment to report it to us….Read the Full Story

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Faulty Clean-up Process May Be Key Event in Huntingtons Disease

Story Summary: Their research is described in the April 11 online edition of Nature Neuroscience. Huntingtons disease, which afflicted the folksinger Woody Guthrie, is a fatal, inherited neurodegenerative disorder. And since the defective protein is present in all of a persons cells, the disease causes problems in the brain and throughout the body. In our investigation of how the accumulating huntingtin protein affects the functioning of cells, we found that it interferes with the cells ability to digest and recycle their contents. She suspected that something similar was going on in Huntingtons disease. One mechanism for cleaning up cells involves forming a membrane around the protein or other cellular structure requiring removal. These garbage bags (more formally known as autophagosomes) then travel to enzyme-filled sacs known as lysosomes that fuse with the bags and digest their cargo. The result: Autophagosomes arrive empty at the lysosomes; and cellular components that should be recycled instead accumulate, causing toxicity that probably contributes to cell death. This finding, Dr. Cuervo noted, shows that activating the lysosomes of cells – one of the proposed treatments for Huntingtons disease – wont do any good. By enhancing the clearance of cellular debris, we may be able to keep Huntingtons patients free of symptoms for a longer time. The paper, Cargo recognition failure is responsible for inefficient autophagy in Huntingtons disease, appears in the April 11 online issue of Nature Neuroscience. D. , a postdoctoral fellow in Dr. Cuervos lab, who is now at the Institute of Neuropathology in Barcelona, Spain. Other Einstein researchers involved in the study were Hiroshi Koga, Ph. D. This work was done in collaboration with the team of Dr. David Sulzer at Columbia University Medical School. Other areas where the College of Medicine is concentrating its efforts include developmental brain research, neuroscience, cardiac disease, and initiatives to reduce and eliminate ethnic and racial health disparities. Other areas where the College of Medicine is concentrating its efforts include developmental brain research, neuroscience, cardiac disease, and initiatives to reduce and eliminate ethnic and racial health disparities. yu….Read the Full Story

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Recommendation and review posted by Bethany Smith

Autism study reveals a DNA tag (methylation) amenable to treatment

Story Summary: Autism Study Reveals a DNA Tag (Methylation) Amenable to Treatment A new discovery raises hope that autism may be more easily diagnosed and that its effects may be more reversible than previously thought. In a new study appearing online in The FASEB Journal, scientists have identified a way to detect the disorder using blood and have discovered that drugs which affect the methylation state (DNA tagging) of genes could reverse autisms effects. This type of drug is already being used in some cancer treatments. The researchers then compared genes that showed changes in DNA tagging (methylation) with a list of genes that showed different levels of expression from these same individuals. This suggests that blocking the chemical tagging of these genes may reverse symptoms of the disorder and demonstrates the feasibility of using more easily accessible cells from blood (or other non-brain tissues) for diagnostic screening. For far too long, autism research has been side-tracked by the cranky notion that its caused by the MMR vaccine, said Gerald Weissmann, M. D. , Editor-in-Chief of The FASEB Journal. Journal Reference:AnhThu Nguyen, Tibor A. Rauch, Gerd P. Pfeifer, and Valerie W. Hu….Read the Full Story

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Virus outbreak causes 40 child deaths in China

Story Summary: Virus outbreak causes 40 child deaths in ChinaApril 10, 2010 (AP) — A top Chinese leader called for stepped-up research into vaccines and drugs for hand, foot and mouth disease after 40 children died from outbreaks last month, a state news agency said Saturday. The Ministry of Health reported 77,756 cases of the disease in March. The number of deaths increased sharply, up from 10 in February. Outbreaks were reported in southern Chinas Guangxi Autonomous Region as well as Guangdong, Henan, Hebei and Shandong provinces. It is spread by direct contact with nose and throat discharges, saliva, fluid from blisters, or the stool of infected people. This material may not be published, broadcast, rewritten or redistributed. 21 hours ago | not rated yet | | (PhysOrg. com) — An analysis of vaccines undertaken by researchers from 5 institutions has found that 7 of the vaccines DNA content was pretty much as expected, but surprisingly, one also contained DNA of . . ….Read the Full Story

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Clostridium Difficile Infection Nears Zero: Intervention Drops Hospital Infection Rate By 1/3

Story Summary: The team had hoped to increase the time between hospital-acquired cases to more than 20 days between infections. When the study began, one units infection frequency was 61 per 10,000 patient days. Researchers concluded that this type of disinfection process was effective at reducing C. difficile infections on these units and should be instituted in other hospital units with high infection rates. The study was initiated, designed and financed by Mayo Clinic. Others on the research team were Leslie Fedraw, Kimberly Aronhalt, R. N. , and James McManus, all of Mayo Clinic. Source: Robert NellisMayo Clinic Any medical information published on this website is not intended as a substitute for informed medical advice and you should not take any action before consulting with a health care professional. Contact Our News EditorsFor any corrections of factual information, or to contact the editors please use our feedback form. Please send any medical news or health news press releases to: These are the most read articles from this news category for the last 6 months: New Strain Of Drug-Resistant Bacteria Emerging In US Hospitals24 Dec 2009A new study reports a surge in drug-resistant strains of a dangerous type of bacteria in US hospitals: Acinetobacter strikes patients in Intensive Care Units (ICUs) and others and often causes severe pneumonias or….Read the Full Story

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MTF Announces 2010 Research Grant Recipients

Story Summary: D. , Cleveland Clinic Lerner College of Medicine-CWRU, Biocompatibility and Efficacy of Reinforced Fascia ECM for Augmentation of Rotator Cuff Repairs in a Canine Shoulder Model. David Sachs, M. D. , Massachusetts General Hospital, Induction of Tolerance to Composite Tissue Allografts. D. , Rush University Medical Center, Stem Cell Mobilization to Enhance Bone Regeneration. D. , Colorado State University, Effect of Systemically Injected Bone Marrow Derived Stem Cells on Segmental Bone Allograft Osteointegration. PEER REVIEW – DERMAL TISSUE B. Todd Heniford, M. D. , Carolinas Medical Center, Evaluation of the Tissue Incorporation of Triclosan-Coated Human Dermal Grafts and Lysostaphin-Coated Human and Xenogenic Dermal Grafts and Their Effectiveness to Resist Infection with Staphylococcus Aureus. OREF (Orthopaedic Research and Education Foundation) AWARD Quanjun Cui, M. D. , University of Virginia, Stem Cell-Based Angiogenic and Osteogenic Gene Therapy to Enhance Bone Defect Repair. CHARLES HERNDON RESIDENCY AWARDS Thomas Keller, M. D. , University of Virginia, A Novel Scaffold for Growth Factor Delivery – An Alternative Graft for Tendon Repair. About MTF The Musculoskeletal Transplant Foundation is a national consortium comprised of academic medical institutions, organ procurement organizations and tissue recovery organizations. About MTF The Musculoskeletal Transplant Foundation is a national consortium comprised of academic medical institutions, organ procurement organizations and tissue recovery organizations. Since our inception in 1987, MTF has received tissue from more than 80,000 donors and distributed more than 4 million grafts for transplantation. Since our inception in 1987, MTF has received tissue from more than 80,000 donors and distributed more than 4 million grafts for transplantation….Read the Full Story

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