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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.

Keywords: cambridge, led, team, discovers, gene, mutation, prevents, carriers, feeling, pain, discover, prevent, carrier

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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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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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Researchers discover new gene responsible for brittle bone disease
10-19-2006 · EurekAlert!
A team of researchers has identified a new genetic mutation responsible for osteogenesis imperfecta (OI), a condition that makes bones much more likely to break, according to a study published today in the journal Cell. Victims may experience just a few fractures in a lifetime or several hundred beginning before birth. The number of Americans affected is unknown, but estimates range from 20,000 to 50,000.
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Cedars-Sinai researchers on multicenter team linking gene mutation to Crohn's disease
10-26-2006 · EurekAlert!
The North American IBD Genetics Consortium has linked a gene mutation to the development of Crohn's disease, a chronic, relapsing inflammatory disorder of the gastrointestinal tract that affects 100 to 150 of every 100,000 people of European ancestry. The consortium is composed of IBD genetics research groups from seven centers in North America, including Cedars-Sinai Medical Center, and this effort was led by teams at Yale University and the University of Pittsburgh.
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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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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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University of Washington-led team discovers a gene
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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Walking molecule now carries packages
01-18-2007 · EurekAlert!
A research team, led by UC Riverside's Ludwig Bartels, was the first to design a molecule that can move in a straight line on a flat surface. Now this team has found a way to attach cargo: two CO2 molecules, making the nano-walker a molecule carrier.
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Benefit of cancer prevention surgery differs between women with BRCA1 and BRCA2 mutations
02-11-2008 · EurekAlert!
The surgical removal of the ovaries has been widely adopted as a cancer-risk-reducing strategy for women with either BRCA1 or BRCA2 mutations. A new multicenter study led by researchers at Memorial Sloan-Kettering Cancer Center is the first prospective examination of the impact of this procedure in which BRCA2 mutation carriers were analyzed separately from BRCA1 mutation carriers.
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UGA researchers discover how human body fights off African parasite
09-06-2007 · EurekAlert!
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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