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Search for the 'on' switches may reveal genetic role in development and disease

01-24-2008 · EurekAlert!

A new resource that identifies regions of the human genome that regulate gene expression may help scientists learn about and develop treatments for a number of human diseases, according to researchers at Duke's Institute for Genome Sciences & Policy.

Keywords: search, reveal, genetic, role, development, disease

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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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Gene found for rare disorder may reveal new pathway in mental retardation
02-05-2007 · EurekAlert!
Studying mutations that give rise to a rare genetic disease, genetics researchers have identified a novel biological pathway that may have a broader role during human development, potentially in cases of mental retardation and autism. An international team of researchers identified two genes that contribute to Cornelia deLange syndrome, a multisystem genetic disease that affects an estimated one in 10,000 children.
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Scientists find major susceptibility genes for Crohn's disease
04-16-2007 · EurekAlert!
A consortium of Canadian and American researchers led by Dr. John D. Rioux, PhD, Associate Professor of Medicine at the Montreal Heart Institute and the Université de Montréal, report in the April 15 online edition of Nature Genetics the results from a search of the entire human genome for genetic risk factors leading to the development of Crohn's disease.
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ClC-1 helps mice get a move on
11-15-2007 · EurekAlert!
One symptom of myotonic dystrophy is the inability to voluntarily relax the muscles. DM originates from complex genetic mutations that result in abnormalities of several muscle proteins, including ClC-1. A new study, has established that abnormal inclusion of a specific region of the ClC-1 gene in ClC-1 mRNA has a role in the development of disease in mouse models of DM and developed an approach to correct this, eliminating myotonia.
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Second phase of HapMap project is completed
10-17-2007 · EurekAlert!
Investigators from six countries have completed the second phase of the International HapMap Project, an effort to identify and catalog genetic similarities and differences among populations around the world. Information provided in the first phase of the HapMap, completed in 2005, has led to the development of techniques facilitating the search for genes associated with common diseases -- such as schizophrenia and heart disease -- and the identification of more than 50 such disease-associated genes.
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Key Function Of Nervous System Enzyme Found; Impact On Drug Development Against Alzheimer's
09-29-2006 · ScienceDaily
Ever since scientists first elucidated the molecular mechanisms underlying the pathology and loss of nerve cells in Alzheimer's disease, drug companies have been working to develop drugs which will inhibit the outbreak of this severe form of dementia. Now researchers in Munich and Berlin (Germany) have discovered that an enyzme which has a central causal role in Alzheimer's disease happens also to have a key function in the normal development of the nervous system. This enzyme, beta-secretase or BACE1, ensures that nerve fibers (axons) are adequately isolated with sheaths of myelin, enabling rapid conduction of electrical impulses, as well as preventing short-circuits, akin to plastic insulation on electrical wires.
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Genetics a key factor in premature infants' devastating eye disease
11-22-2006 · EurekAlert!
Genetics play a major role in predisposing infants to retinopathy of prematurity (ROP), a disease prevalent in premature infants that disrupts normal blood vessel development of the retina and can lead to blindness, researchers at Yale School of Medicine report in the November issue of Pediatrics.
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Study examines genetic defects linked to body abnormalities in patients with childhood cancer
01-01-2008 · EurekAlert!
Children with cancer have a higher prevalence of body abnormalities, such as asymmetric lower limbs and curvature of the spine, suggesting that the genetic defect responsible for the abnormality may play a role in the development of cancer, according to a study in the Jan. 2 issue of JAMA.
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Nicotine: The link between cigarette smoking and kidney disease progression?
01-29-2007 · EurekAlert!
The mechanisms by which cigarette smoke may accelerate some types of chronic kidney disease are currently unknown. A new study demonstrates for the first time that human mesangial cells (MC) - cells in the blood vessels of the kidneys -- are endowed with nicotinic receptors (nAChRs) á4, á5, á7, â2, â3, â4 and â5 (cells that interact with the nicotine in tobacco) and may play an active role in the development of certain kidney diseases.
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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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