http://medicalxpress.com/genetics-news/ en-us Medical Xpress Team Medical Xpress provides the latest news on genetics, genetic science, genetic research, genetic engineering, genetic studies and genes. Methylation refers to a chemical modification of DNA and this modification can occur in millions of positions in the DNA sequence. Until now, scientists believed that this epigenetic phenomenon actively reduced the expression of certain genes. Today, a team of researchers from the University of Geneva (UNIGE), Switzerland, led by Emmanouil Dermitzakis, Louis-Jeantet Professor at the Faculty of Medicine, reveals that this is not always the case and that DNA methylation may play both a passive and active role in gene regulation. The mechanistic relationships between DNA sequence variability and gene expres- sion therefore prove to be more complex and variable than originally assumed. http://medicalxpress.com/news/2013-06-secret-dna-methylation.html Genetics 2013-06-18T11:31:29-07:00 Aspirin is known to lower risk for some cancers, and a new study led by a UC San Francisco scientist points to a possible explanation, with the discovery that aspirin slows the accumulation of DNA mutations in abnormal cells in at least one pre-cancerous condition. http://medicalxpress.com/news/2013-06-aspirin-cancer-dna.html Genetics 2013-06-18T09:10:56-07:00 A study by researchers at Skaggs School of Pharmacy and Pharmaceutical Sciences and the Department of Pharmacology at the University of California, San Diego, shows that a protein called MCL-1, which promotes cell survival, is essential for normal heart function. http://medicalxpress.com/news/2013-06-protein-essential-heart-function.html Genetics 2013-06-17T12:45:57-07:00 Adenoid cystic carcinoma (ACC) is a slow-growing and often fatal malignancy that can occur at multiple organ site, but is most frequently found in the salivary glands. The primary treatment is surgical removal; however, the majority of patients develop metastatic disease. http://medicalxpress.com/news/2013-06-scouring-genome-adenoid-cystic-carcinoma.html Genetics 2013-06-17T12:45:01-07:00 (HealthDay)—Two new studies offer some solace to those who can't control their weight despite diet and exercise by providing more evidence that genetics may play a role in obesity. http://medicalxpress.com/news/2013-06-variants-sim1-gene-severe-obesity.html Genetics 2013-06-17T12:39:55-07:00 (Medical Xpress)—Rett Syndrome is a neurological disorder that affects about 1 in 10,000 girls. Back in 1992, University of Edinburgh researcher Adrian Bird discovered that the protein, MeCP2, plays a major role in the disease. The story of MeCP2 is in many ways a microcosm of human genetics. It has become the showcase gene for many complex epi-genetic phenomena including X-linked inactivation, DNA methylation, and genomic imprinting. These gender-specific bargaining chips provide compatibility in an evolutionary system where sex-chromosome provisioning is inherently assymetric. In two new papers, one in Nature and the the other in Nature Neuroscience, Bird and collaborator Michael Greenberg, show how mutations found in Rett Syndrome affect the interaction of MeCP2 with a key regulatory protein known as NCoR. http://medicalxpress.com/news/2013-06-rett-syndrome-protein-surrenders-secrets.html Genetics 2013-06-17T11:22:01-07:00 The U.S. Supreme Court ruled in a unanimous decision Thursday that naturally occurring human genes can't be patented. The case centered on Myriad Genetics Inc.'s patents on popular breast and ovarian cancer tests. These tests were also recently thrust into the global spotlight when actress Angelina Jolie revealed she underwent a double mastectomy after such a test found her at higher risk for developing breast cancer. In the case, Myriad argued that the DNA it isolated for its cancer tests were patentable, but the court ruled otherwise. The court did, however, rule that synthetically created genetic material, called "complementary" DNA or "cDNA," can be patented. We asked Michael Bennett, an associate professor in the School of Law who studies patent law and whose research interests lie at the nexus of law and emerging technologies, to examine the impact of the ruling. http://medicalxpress.com/news/2013-06-3qs-supreme-court-human-genes.html Genetics 2013-06-17T08:30:01-07:00 (Medical Xpress)—For the first time, researchers from The Wellcome Trust Sanger Institute, the Royal National Orthopaedic Hospital and UCL Cancer Institute, have linked a gene central to the production of cartilage, COL2A1, to the development of a common type of bone cancer. Their discovery may act as an important way to diagnose this type of cancer in the future, improving patient care. http://medicalxpress.com/news/2013-06-cartilage-linked-bone-cancer-diagnostic.html Genetics 2013-06-17T08:06:49-07:00 National Paracycling Champion Tom Staniford has an extremely rare condition which, until now, has puzzled his doctors. He is unable to store fat under his skin – yet has type 2 diabetes – and suffered hearing loss as a child. Now, thanks to advances in genome sequencing, an international research team led by the University of Exeter Medical School has identified Tom's condition and pinpointed the single genetic mutation that causes it. http://medicalxpress.com/news/2013-06-advances-genetic-sequencing-paralympic-rare.html Genetics 2013-06-16T13:00:03-07:00 By identifying a protein that acts as a genetic modifier, scientists at Cold Spring Harbor Laboratory (CSHL) have solved the mystery of why some infants are born with a grave syndrome consisting of cleft palate and major deformities of the skin and limbs, while other infants bearing the same predisposing genetic mutation bear little or no sign of the illness, called EEC. http://medicalxpress.com/news/2013-06-geneticists-mystery-eec-syndrome-variable.html Genetics 2013-06-14T11:33:50-07:00 (Medical Xpress)—For the past 70 years, androgen deprivation therapy (ADT) has been the standard treatment for men diagnosed with late-stage prostate cancer. http://medicalxpress.com/news/2013-06-approach-late-stage-prostate-cancer.html Genetics 2013-06-14T07:00:06-07:00 (Medical Xpress)—Research carried out by Medical Research Council (MRC) researchers at the University of Oxford has uncovered a chain of genetic events that are common in individuals with autism, and have examined for the first time how this chain may influence how messages are sent between nerve cells in the brain. This knowledge will help researchers better understand the role that genetics plays in autism. http://medicalxpress.com/news/2013-06-role-genes-autism.html Genetics 2013-06-14T06:50:05-07:00 (HealthDay)—Functionally impaired variants in the COQ2 gene, which encodes the enzyme parahydroxybenzoate-polyprenyl transferase, have been identified in multiplex families with multiple-system atrophy and in patients with sporadic disease, according to a study published online June 12 in the New England Journal of Medicine. http://medicalxpress.com/news/2013-06-mutations-coq2-linked-multiple-system-atrophy.html Genetics 2013-06-13T15:20:01-07:00 A new study of the genetic origins of dyslexia and other learning disabilities could allow for earlier diagnoses and more successful interventions, according to researchers at Yale School of Medicine. Many students now are not diagnosed until high school, at which point treatments are less effective. http://medicalxpress.com/news/2013-06-unravel-genetics-dyslexia-language-impairment.html Genetics 2013-06-13T13:04:40-07:00 Researchers at Case Western Reserve University have found that a single gene poses a double threat to disease: Not only does it inhibit the growth and spread of breast tumors, but it also makes hearts healthier. http://medicalxpress.com/news/2013-06-gene-athlete-heart.html Genetics 2013-06-13T10:59:30-07:00 The U.S. Supreme Court on Thursday unanimously threw out attempts to patent human genes, siding with advocates who say the multibillion-dollar biotechnology industry should not have exclusive control over genetic information found inside the human body. http://medicalxpress.com/news/2013-06-court-human-genes-patented.html Genetics 2013-06-13T10:50:14-07:00 Seeking to improve the lives of sickle cell anemia sufferers around the world, researchers from the La Jolla Institute for Allergy and Immunology, the Dana-Farber/Children's Hospital Cancer Center in Boston and the BloodCenter of Wisconsin in Milwaukee and others are preparing to launch Phase II of a clinical trial to investigate a potential new therapy for reducing the disorder's severest symptoms. Sickle cell anemia is a serious, painful and chronic illness that impedes blood flow and can lead to early death. More than 100,000 Americans and several million people worldwide suffer from this genetic disorder. http://medicalxpress.com/news/2013-06-sickle-cell-anemia-therapy-advances.html Genetics 2013-06-12T06:00:03-07:00 Physicians and researchers from Sherbrooke, Montreal and Quebec City have conducted a study that has led to the discovery of a gene that causes multiple intestinal atresia (MIA), a rare and life-threatening hereditary disorder that affects newborns. In addition to exploring novel therapeutic treatments for children with the disease, the discovery of the gene TTC7A will make it possible to develop a prenatal diagnostic test and a screening test for parents who are carriers. The Centre hospitalier universitaire de Sherbrooke (CHUS) should offer the tests. http://medicalxpress.com/news/2013-06-discovery-gene-responsible-multiple-intestinal.html Genetics 2013-06-11T12:32:52-07:00 (Medical Xpress)—DNA is often called the blueprint of life, but the four-letter combinations that make up the genetic code are just part of the story. Built upon the DNA lies additional epigenetic information in the form of a complex ensemble of chemical tags attached to the DNA itself and on proteins that package our DNA – called histones – which ultimately control how our genetic code is accessed and used. Interestingly, histones are decorated with many types of chemical tags, and their particular combinations have been referred to as the "histone code." But understanding how the cell interprets the code has proven challenging due to its sheer complexity and a lack of tools to study the code inside the cell. http://medicalxpress.com/news/2013-06-piece-histone-code-puzzle.html Genetics 2013-06-11T08:28:20-07:00 Low levels of vitamin D can trigger hypertension, according to the world's largest study to examine the causal association between the two. Although observational studies have already shown this link, a large-scale genetic study was necessary before the cause and effect could be proven, the annual conference of the European Society of Human Genetics (ESHG) will hear today (Tuesday). http://medicalxpress.com/news/2013-06-genetic-link-hypertension-vitamin-d.html Genetics 2013-06-10T18:00:01-07:00 A study in Schizophrenia Bulletin is among the first to indicate epigenetic changes related to immune function in schizophrenia. DNA methylation, a process involving the addition of a methyl group to the DNA without changing its sequence, can alter gene expression. http://medicalxpress.com/news/2013-06-experts-epigenetic-moderate-reality-distortion.html Genetics 2013-06-10T13:28:11-07:00 The group of genetic conditions known as spinocerebellar ataxias currently have no treatment or cure and are always fatal, in the case of affected children at an early age. Symptoms include a progressive lack of co-ordination of gait, and poor co-ordination of hands, speech and eye movements, due to a failure of co-ordination of muscle movements. Now researchers from France and the US have found a new way of controlling the symptoms and significantly improving the physical condition of animal models of the disease, the annual conference of the European Society of Human Genetics will hear on Monday, June 10. http://medicalxpress.com/news/2013-06-interferon-beta-aids-movement-mice-spinocerebellar.html Genetics 2013-06-09T18:00:01-07:00 French scientists have discovered that supposedly rare mutations in the mitochondria, the 'power plants' of human cells responsible for creating energy, account for more than 7% of patients with a mitochondrial disease manifesting itself as a respiratory deficiency. Their data emphasise the need for comprehensive analysis of all the mitochondrial DNA (mtDNA) in patients suspected as having a mitochondrial disease, and this should include children, a researcher will tell the annual conference of the European Society of Human Genetics today (Sunday). http://medicalxpress.com/news/2013-06-rare-mitochondrial-mutationsmaybe.html Genetics 2013-06-08T18:00:01-07:00 (Medical Xpress)—In a new paper, USC Dornsife molecular and computational biologists Norman Arnheim and Peter Calabrese and their team found that the longer a man waits to have children, the greater the chance of having a child with Noonan syndrome. http://medicalxpress.com/news/2013-06-father-age-affects-offspring.html Genetics 2013-06-07T07:43:28-07:00 Thanks to thousands of volunteer twins, scientists have discovered over 400 novel genes associated with over 30 diseases over the last two decades, marking a golden era in genetic discovery. http://medicalxpress.com/news/2013-06-twin-age.html Genetics 2013-06-07T07:36:55-07:00 (Medical Xpress)—One of the genes which causes a muscle disease so severe that newborn babies rarely survive beyond a few days has been discovered by an international team of scientists, coordinated by The University of Western Australia affiliate, the Western Australian Institute for Medical Research (WAIMR). http://medicalxpress.com/news/2013-06-gene-discovery-parents-fatal-baby.html Genetics 2013-06-07T06:52:31-07:00 A team of researchers has made a significant discovery which may have a dramatic impact on children stricken with Tay-Sachs disease, a degenerative and fatal neurological condition that often strikes in the early months of life. http://medicalxpress.com/news/2013-06-readily-available-drugs-devastating-symptoms-tay-sachs.html Genetics 2013-06-06T11:25:27-07:00 Reaching puberty at an unusually early age can have adverse effects on social behavior and psychological development, as well as physical effects, including short stature, and lifelong health risks, such as diabetes, breast cancer and heart disease. Researchers at Brigham and Women's Hospital (BWH), in a multi-institutional collaboration with Boston Children's Hospital, the Broad Institute, and the University of Sao Paulo, Brazil, have identified that a genetic mutation leads to a type of premature puberty, known as central precocious puberty. Central precocious puberty is defined by the development of secondary sexual characteristics before eight years in girls and nine years in boys. http://medicalxpress.com/news/2013-06-genetic-mutation-inherited-father-side.html Genetics 2013-06-05T17:00:05-07:00 A gene linked to autism spectrum disorders that was manipulated in two lines of transgenic mice produced mature adults with irreversible deficits affecting either learning or social interaction. http://medicalxpress.com/news/2013-06-over-produced-autism-gene-synapses-affects.html Genetics 2013-06-05T15:14:44-07:00 Researchers are still fascinated by the idea of the possibility of reprogramming the cells of any tissue, turning them into cells with the capacity to differentiate into cells of a completely different type— pluripotent cells—and they are still striving to understand how it happens. http://medicalxpress.com/news/2013-06-gene-essential-nuclear-reprogramming.html Genetics 2013-06-05T10:47:38-07:00