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Gene responsible for common hearing loss identified for first time

A gene responsible for the single most common cause of hearing loss among white adults, otosclerosis, has been identified for the first time, a scientist told the annual conference of the European Society of Human Genetics in Nice, France. Melissa Thys, from the Department of Medical Genetics, University of Antwerp, Belgium, said that this finding may be a step towards new treatments for otosclerosis, which affects approximately one in 250 people.

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1. 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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2. Genome sequencing reveals key to viable ethanol production
   03-02-2007 · EurekAlert!
   As the national push for alternative energy sources heats up, researchers at the University of Rochester have for the first time identified how genes responsible for biomass breakdown are turned on in a microorganism that produces valuable ethanol from materials like grass and cornstalks.Waste products such as grass clippings and wood chips -- once thought too difficult to turn into ethanol -- may soon be fodder for hungry, gene-tweaked bacteria.
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3. 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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4. University of Pittsburgh cardiologists identify new cardiac arrest gene
   10-31-2007 · EurekAlert!
   Researchers at the University of Pittsburgh, reporting in Circulation have identified a new gene responsible for a rare, inherited form of sudden cardiac arrest, known as Brugada syndrome. Using positional cloning and gene sequencing on an affected family, lead investigator Barry London and colleagues identified a mutation in a previously unstudied gene, GPD1-L, on chromosome 3p24. This mutation impairs the heart's natural electrical ability to beat in a coordinated manner and maintain a stable rhythm.
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5. Circadian gene helps the brain predict mealtime
   10-23-2006 · EurekAlert!
   By investigating how animals can predict the timing of food availability, researchers have identified the first gene critical for anticipation of mealtime. This gene, called Period 2, is a key component of the circadian time-keeping system.
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6. First familial pancreatic cancer gene identified
   12-11-2006 · EurekAlert!
   At least 10 percent of pancreatic cancers are thought to be familial, i.e., caused by inherited genetic mutations. The responsible genes have so far remained elusive, but one of the research teams that had been on a pancreatic cancer gene hunt for years now reports success: Teri Brentnall (University of Washington), David Whitcomb (University of Pittsburgh), and colleagues publish the identification of the palladin gene as the one mutated in a large family they had been studying for a while.
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7. Genes may interact with obstetric complications to boost schizophrenia risk
   01-14-2008 · EurekAlert!
   Researchers have proposed that such birth traumas may interact with certain gene variants to increase risk for the illness. Now, a new study by researchers at the National Institute of Mental health has identified specific genes involved in such interactions. Obstetric complications appeared to increase the impact of versions of genes affected by loss of oxygen or blood supply to the brain, as often occurs in such birth traumas.
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8. 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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9. Analysis of breast-cancer gene role offers promising target for drugs to stop or slow progression of disease
   10-30-2006 · UT Southwestern Medical Center
   Researchers at UT Southwestern Medical Center have for the first time described how multiple copies of a gene are responsible for metastases in early-stage breast cancer and poor prognosis for patients.
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10. Analysis of breast-cancer gene role offers promising target
    10-30-2006 · EurekAlert!
    Researchers at UT Southwestern Medical Center have for the first time described how multiple copies of a gene are responsible for metastases in early-stage breast cancer and poor prognosis for patients.
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