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Research team identifies additional genetic risk factors for Crohn's disease

04-15-2007 · EurekAlert!

An international research team has identified several novel genetic variations associated with the risk of Crohn's disease. One of the identified genes establishes a role for autophagy, a previously unsuspected biological pathway, in Crohn's disease pathology, and the report documents functional studies which establish that this gene is integral to immune responses to intestinal bacteria.

Keywords: research, team, identifies, additional, genetic, risk, factors, crohn, disease, identify, factor

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Research team identifies new Alzheimer's gene
06-06-2007 · EurekAlert!
A study comparing more genetic markers in the DNA of people with and without Alzheimer's disease than ever before enabled researchers to identify a common gene that appears to increase one's risk for developing Alzheimer's disease. The finding by researchers at the Translational Genomics Research Institute, Banner Alzheimer's Institute, Kronos Science Laboratory and their collaborative partners, suggests that the gene -- called GAB2 -- modifies an individual's risk when associated with other genes, including APOE4.
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Advance in understanding of blood pressure gene could lead to new treatments
02-04-2007 · EurekAlert!
Research by scientists at UCL (University College London) has clearly demonstrated for the first time the structure and function of a gene crucial to the regulation of blood pressure. The discovery could be important in the search for new treatments for illnesses such as heart disease, the UK's biggest killer. In a paper published online today in Nature Medicine, the team, led by Professor Patrick Vallance and Dr James Leiper, UCL Department of Medicine, reveal the role of the human gene dimethylarginine dimethylaminohydrolase (DDAH), showing that loss of DDAH activity disrupts nitric oxide (NO) production. NO is critical in the regulation of blood pressure, nervous system functions and the immune system. The role of DDAH is to break down modified amino acids (Asymmetric dimethylarginine (ADMA) and monomethyl arginine (L-NMMA)) that are produced by the body and have been shown to inhibit NO synthase. These molecules accumulate in various disease states including diabetes, renal failure and pulmonary and systemic hypertension, and their concentration in plasma (the fluid component of blood) is strongly predicative of cardiovascular disease and death. In a healthy human body, the majority of ADMA is eliminated through active metabolism by DDAH. Scientists have hypothesised that if DDAH function is impaired, NO production is reduced, and that this could be an important feature of increased cardiovascular risk. To examine this pathway in more detail, the researchers deleted the DDAH gene in mice. These mice went on to develop hypertension, or high blood pressure. They also designed specific inhibitors (small molecules) which bind to the active site of human DDAH. These small molecule inhibitors also induced hypertension in mice, confirming the importance of DDAH in the regulation of blood pressure. Dr Leiper, UCL Medicine, said: “These genetic and chemical approaches to disrupt DDAH showed remarkably consistent results, and provide compelling evidence that loss of DDAH function increases the concentration of ADMA and thereby disrupts vascular NO signalling. “There has been considerable scientific interest in this pathway and the role of ADMA as a novel risk factor, but so far there's been little evidence to support the idea that it's a cause of disease, rather than just a marker. Genes and their pathways are crucial to our understanding of cardiovascular disease and a better understanding of DDAH-1 could lead to important new treatments. “It could help us to establish if genetic variation predisposes certain people to these diseases, or whether environmental factors exert some of their effects through modulation of DDAH activity. “Our research also shows that this pathway could be harnessed therapeutically to limit production of NO in certain situations where too much nitric oxide is a bad thing; for example, hypotension and septic shock. These are some of the biggest problems in intensive care medicine and there is a huge unmet need for drug treatments.” The study, which was carried out at UCL's Rayne Institute, was funded by grants from the British Heart Foundation, the Wellcome Trust and the Medical Research Council. Professor Jeremy Pearson, Associate Medical Director of the British Heart Foundation, said: "The unexpected finding in the 1980s that a simple gas, nitric oxide (NO), is made by cells in the blood vessel wall and is a powerful control of blood vessel relaxation led to the award of the Nobel Prize in 1998 to its discoverers. "More recently, there has been increasing evidence that impairment of NO production is likely to be an important factor in the development of heart and circulatory disease, but the mechanisms responsible are not fully understood. "This study suggests for the first time that the loss of the activity of the enzyme DDAH-1 leads to reduced NO production and may cause heart and circulatory disease. These findings are likely to be important in the search for new ways to optimise the health of our blood vessels." ### Notes for Editors 1. For more information, please contact Ruth Metcalfe in the UCL Media Relations Office on tel: +44 (0)20 7679 9739, mobile: +44 (0)7990 675 947, out of hours: +44 (0)7917 271 364, e-mail: r.metcalfe@ucl.ac.uk2. 'Disruption of methylarginine metabolism impairs vascular homeostasis' is published in the February issue of the journal Nature Medicine. Advance online publication is embargoed to 18.00 GMT (13.00 US Eastern) Sunday 4 February 2007. Journalists can obtain copies of the paper by contacting the UCL Media Relations Office.3. The study was funded by the British Heart Foundation, the Wellcome Trust and the Medical Research Council. About UCL Founded in 1826, UCL was the first English university established after Oxford and Cambridge, the first to admit students regardless of race, class, religion or gender, and the first to provide systematic teaching of law, architecture and medicine. In the government's most recent Research Assessment Exercise, 59 UCL departments achieved top ratings of 5* and 5, indicating research quality of international excellence. UCL is the fourth-ranked UK university in the 2006 league table of the top 500 world universities produced by the Shanghai Jiao Tong University. UCL alumni include Mahatma Gandhi (Laws 1889, Indian political and spiritual leader); Jonathan Dimbleby (Philosophy 1969, writer and television presenter); Junichiro Koizumi (Economics 1969, Prime Minister of Japan); Lord Woolf (Laws 1954, Lord Chief Justice of England & Wales); Alexander Graham Bell (Phonetics 1860s, inventor of the telephone), and members of the band Coldplay.
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Genetic 'fellow traveler' discovered in Alzheimer's
06-06-2007 · EurekAlert!
A new gene that influences susceptibility to late-onset Alzheimer's disease has been identified by an international research team that analyzed the genomes of more than a thousand people with and without the disorder. The researchers identified the gene, called GAB2, as one that appears to influence the risk of Alzheimer's in people with a version of a gene called APOE, which is the best established genetic risk factor for LOAD.
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Scientists find major susceptibility gene for Crohn's disease
04-15-2007 · EurekAlert!
Using a novel approach, researchers identified that the PHOX2B, NCF4 and ATG16L1 genes constitute genetic risk factors for Crohn's disease. In addition, their study identified two regions of the genome where genetic risk factors are located but no known genes were implicated -- further work will be necessary to identify the causal genes in these regions.
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U of M-led study identifies new genetic risk factors for type 2 diabetes
04-26-2007 · EurekAlert!
Ten genetic variants associated with type 2 diabetes, a disease which impacts more than 170 million people worldwide, have been identified or confirmed by a US-Finnish team led by scientists at the University of Michigan School of Public Health.
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Feinstein researchers develop new genetic method and identify novel genes for schizophrenia
12-03-2007 · EurekAlert!
Scientists at the Zucker Hillside Hospital campus of the Feinstein Institute for Medical Research have identified nine genetic markers that can increase a person's risk for schizophrenia. In a study published this week in the Proceedings of the National Academy of Sciences, the research team uncovered original evidence that this disabling brain disease can be inherited in a recessive manner. A recessive trait is one that is inherited from both parents.
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Researchers identify new genetic risk factors for type 2 diabetes
04-26-2007 · EurekAlert!
New research, published in the online edition of the journal Science, provides most comprehensive look yet at genetic variants associated with increased risk for type 2 diabetes.
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Identification of genetic risk factor for coeliac disease promises improved treatment
06-10-2007 · EurekAlert!
Researchers have identified a new genetic risk factor for coeliac disease, an autoimmune disease affecting one in 100 of the population. The findings, made by an international research group investigating the causes of intestinal inflammatory conditions, could pave the way towards improved diagnostics and treatments for the lifelong complaint. Triggered by gluten, a protein found in wheat, barley and rye, currently the only treatment for coeliac disease is a life-long gluten free diet.
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Study identifies a common genetic risk factor for colorectal and prostate cancer
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A study led by researchers at the Keck School of Medicine of the University of Southern California has found that one of seven genetic risk factors previously identified as increasing the probability of developing prostate cancer also increases the probability of developing colorectal cancer.
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Research team identifies human 'memory gene'
10-19-2006 · EurekAlert!
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