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Study examines cause of hearing loss for patients with certain genetic disease

07-03-2007 · EurekAlert!

Patients with the genetic disorder von Hippel-Lindau disease may suddenly experience hearing loss because of a tumor-associated hemorrhage in the inner ear, according to a study in the July 4 issue of JAMA.

Keywords: study, examines, cause, hearing, loss, patients, certain, genetic, disease, examine, patient

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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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NIH researchers discover protein that appears to regulate bone mass loss, the cause of osteoporosis
03-05-2007 · EurekAlert!
An estimated ten million Americans suffer from osteoporosis, and another 34 million Americans are at risk of developing the disease. The basic mechanism behind osteoporosis involves an imbalance between bone mineral formation and loss, but the detailed biological processes that lead to this imbalance are not completely understood. Now researchers at NIAID and colleagues are reporting new insights into the biology of bone loss based on a study of 14 people with a rare genetic disorder called X-linked Hyper IgM Syndrome.
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Study examines implications of genetic screening for disease that can be less serious, treatable
09-18-2007 · EurekAlert!
Some couples in Israel whose fetus screened positive for Gaucher disease, which can range from being mild and treatable to being a severe disease, decided to have the pregnancy terminated, raising questions concerning the appropriateness of certain types of genetic screenings, according to a study in the Sept. 19 issue of JAMA.
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Identifying the mechanism behind a genetic susceptibility to type 2 diabetes
08-01-2007 · EurekAlert!
Type 2 diabetes is reaching epidemic proportions in the developed world. Determining if and how certain genes predispose individuals to type 2 diabetes is likely to lead to the development of new treatment strategies for individuals with the disease. A new study now shows that certain variants of the gene TCF7L2 make individuals more susceptible to type 2 diabetes and provides a mechanism by which these genetic variants might cause susceptibility to the disease.
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Aggressive therapy best for certain AML patients
08-01-2007 · EurekAlert!
A new study suggests that acute leukemia patients whose cancer cells show a genetic change that usually predicts a swift return of the disease following remission may remain disease-free longer when given aggressive therapy. The findings apply to people with acute myeloid leukemia whose cancer cells have normal-looking chromosomes and a gene mutation called MLL-PTD.
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New study examines brain-gut relationship in those suffering with stomach pain or discomfort
09-05-2007 · EurekAlert!
A new clinical study will explore the brain-gut interaction in patients with functional dyspepsia and whether certain drugs can effectively relieve symptoms of this disorder. Functional dyspepsia is a costly and chronic disorder that can cause severe stomach pain often reported as cramping, bloating and gas, or great discomfort or fullness after eating. The study is funded by the National Institutes of Health at six medical centers in the US.
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Over-the-counter eardrops may cause hearing loss or damage
01-28-2008 · EurekAlert!
A new study, led by researchers at The Montreal Children's Hospital of the MUHC, has revealed that certain over-the-counter earwax softeners can cause severe inflammation and damage to the eardrum and inner ear. The results of the study, recently published in The Laryngoscope, suggest that use of these medications should be discouraged.
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Combination therapy stops loss of kidney function in rare genetic disease
07-25-2007 · EurekAlert!
A combination of two types of blood pressure-lowering drugs -- an angiotensin-converting enzyme inhibitor (ACEI) plus an angiotensin-receptor blocker (ARB), added to enzyme replacement therapy (ERT) with agalsidase-beta (Fabrazyme, Genzyme Corporation, Cambridge, Mass.) -- is the first treatment shown to stop progressive loss of kidney function in patients with severe kidney involvement due to the rare genetic disorder Fabry disease, reports a study in the September Journal of the American Society of Nephrology.
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Targeted HIV testing more effective than CDC mass testing proposal
06-11-2007 · EurekAlert!
A targeted campaign of testing and counseling aimed at those who are at high risk for HIV would be more effective than the mass patient screening proposed by the Centers for Disease Control and Prevention, according to an analysis by David Holtgrave, Ph.D., an expert on HIV prevention at the Johns Hopkins Bloomberg School of Public Health. Holtgrave's study is the first to examine the cost-effectiveness of the CDC's testing plan.
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STAR*D study examines effect of genetic variation in treatment resistant depression
12-06-2006 · EurekAlert!
Researchers are now better able to predict which patients will respond to treatment for depression through the presence of genetic markers, according to results from a major NIH study on treatment resistant depression released today at the annual meeting of the American College of Neuropsychopharmacology.
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