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University of Washington-led team discovers a gene

An international group of researchers has discovered that the mutated form of a gene called Palladin causes familial pancreatic cancer. The findings, published online today, Dec. 12, in the peer-reviewed journal PLoS-Medicine, may help explain why the disease is so deadly. The research project was led by Dr. Teri Brentnall, University of Washington associate professor of medicine, and supported by the Lustgarten Foundation, Canary Foundation and other private sources.

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1. University of Washington-led team discovers a gene that causes familial pancreatic cancer
   12-12-2006 · EurekAlert!
   An international group of researchers has discovered that the mutated form of a gene called Palladin causes familial pancreatic cancer. The findings, published online today, Dec. 12, in the peer-reviewed journal PLoS-Medicine, may help explain why the disease is so deadly. The research project was led by Dr. Teri Brentnall, University of Washington associate professor of medicine, and supported by the Lustgarten Foundation, Canary Foundation and other private sources.
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2. Researchers discover gene responsible for Restless Legs Syndrome
   07-18-2007 · EurekAlert!
   An international team of researchers has identified the first gene associated with Restless Legs Syndrome, a common sleep disorder affecting tens of millions of people worldwide. The work was led by scientists at Emory University and deCODE Genetics Inc. in Reykjavik, Iceland.
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3. UGA scientists discover bacterial 'switch gene' that regulates oceans' sulfur emissions into the air
   10-26-2006 · EurekAlert!
   A team of researchers, led by marine microbial ecologist Mary Ann Moran at the University of Georgia, has discovered a bacterial "switch gene" in two groups of plankton. This gene helps determine whether certain marine bacterioplankton convert a sulfur compound to one that rises into the atmosphere and affects the earth's temperature or remains climatically inactive in the seas.
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4. Genes and genius: Researchers confirm association between gene and intelligence
   02-26-2007 · EurekAlert!
   A team of scientists, led by psychiatric geneticists at Washington University School of Medicine in St. Louis, has gathered the most extensive evidence to date that a gene that activates signaling pathways in the brain influences one kind of intelligence. They have confirmed a link between the gene, CHRM2, and performance IQ.
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5. Undergraduate paves way for NASA Mars mission
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6. UGA researchers discover how human body fights off African parasite
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   A team of researchers led by biochemists at the University of Georgia propose that T. b. brucei actually does infect humans but that the infection triggers release of hemoglobin from red blood cells. Hemoglobin appears to "arm" the human innate immune system by binding to a small fraction of high density lipoprotein (HDL), or "good cholesterol." The hemoglobin-HDL complex then becomes a super toxin and clears the body of trypanosomes.
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7. New study reveals for first time how BRCA1 mutations cause breast cancer
   12-09-2007 · EurekAlert!
   An international team of researchers led by Columbia University Medical Center's Herbert Irving Comprehensive Cancer Center and Sweden's Lund University has, for the first time, revealed how mutations in the BRCA1 gene lead to breast cancer. Findings show that one way BRCA1 mutations cause cancer is by knocking out a powerful tumor suppressor gene known as PTEN.
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8. Cambridge led team discovers gene mutation which prevents carriers from feeling pain
   12-13-2006 · EurekAlert!
   Researchers have discovered a gene mutation which prevents the otherwise healthy carriers from sensing pain, after studying three related families with a rare genetic disorder in northern Pakistan.
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9. 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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10. Research team discovers gallstone gene
    07-11-2007 · EurekAlert!
    Scientists at the University of Bonn, together with colleagues from Romania, have discovered a gene variant that significantly increases the risk of developing gallstones (Hepatology No. 46, July 11, 2007, DOI 10.1002/hep.21847). It is estimated that one in ten Europeans has this variant in their hereditary disposition. For those affected, the likelihood of developing a gallstone in the course of their life is two to three times higher.
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