http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. In a new publication that appears in Human Molecular Genetics, the laboratory of Christine DiDonato, PhD reports on their pharmacological characterization of the drug RG3039, demonstrating that it can extend survival and improve function in two spinal muscular atrophy (SMA) mouse models. They have determined the minimum effective dose and drug action, thus contributing to dose selection and exposure estimates for the first studies with RG3039 in humans. As in cellular assays, the animal studies have shown that drug treatment leads to improvement in nuclear gem/Cajal body numbers in motor neurons. Gem loss is a cellular hallmark of fibroblasts derived from SMA patients; gem numbers inversely correlate with SMA disease severity. In addition, the laboratory has shown improved functional outcomes, including treadmill walking and gait dynamics, in animals receiving the drug. The laboratory has been testing RG3039 in SMA mouse models with disease phenotypes ranging from mild to severe. http://medicalxpress.com/news/2013-06-candidate-drug-benefit-sma-animal.html Genetics Tue, 04 Jun 2013 16:46:37 EST news289583190 Research funded by children's charity Action Medical Research has uncovered new gene variants in startle disease, a rare condition in newborn babies. Understanding the genetic causes should lead to new genetic tests and is vital to ensure that babies get the correct treatment. http://medicalxpress.com/news/2013-05-startle-disease-key-gene-variants.html Genetics Thu, 30 May 2013 08:59:59 EST news289123191 Imagine if you could open up your brain and look inside. What you would see is a network of nerve cells called neurons, each with its own internal highway system for transporting essential materials between different parts of the cell. http://medicalxpress.com/news/2013-05-traffic-brain-cells.html Genetics Tue, 28 May 2013 16:16:18 EST news288976551 Widely available in pharmacies and health stores, phosphatidylserine is a natural food supplement produced from beef, oysters, and soy. Proven to improve cognition and slow memory loss, it's a popular treatment for older people experiencing memory impairment. Now a team headed by Prof. Gil Ast and Dr. Ron Bochner of Tel Aviv University's Department of Human Molecular Genetics have discovered that the same supplement improves the functioning of genes involved in degenerative brain disorders, including Parkinson's disease and Familial Dysautonomia (FD). http://medicalxpress.com/news/2013-05-common-food-supplement-degenerative-brain.html Medical research Tue, 21 May 2013 12:20:01 EST news288356860 (Medical Xpress)—Some parts of the body, like the liver, can regenerate themselves after damage. But others, such as our nervous system, are considered either irreparable or slow to recover, leaving thousands with a lifetime of pain, limited mobility, or even paralysis. http://medicalxpress.com/news/2013-05-reversing-paralysis-gel-implant-regenerate.html Neuroscience Mon, 13 May 2013 10:18:54 EST news287659107 Researchers at Georgetown University Medical Center have used tiny doses of a leukemia drug to halt accumulation of toxic proteins linked to Parkinson's disease in the brains of mice. This finding provides the basis to plan a clinical trial in humans to study the effects. http://medicalxpress.com/news/2013-05-cancer-drug-build-up-toxic-brain.html Genetics Fri, 10 May 2013 00:10:02 EST news287338927 (Medical Xpress)—Researchers at King's College London's Dental Institute have shown that people with a certain kind of kidney disease have characteristic facial features that may reflect the genetic mutation they carry. http://medicalxpress.com/news/2013-04-link-facial-kidney-disease.html Diseases, Conditions, Syndromes Wed, 24 Apr 2013 07:04:16 EST news286005850 (Medical Xpress)—A new study from researchers at the University of Florida may have uncovered a critical factor that drives the relentless progression of Alzheimer's disease ― a discovery that could eventually slow its progression. http://medicalxpress.com/news/2013-04-uncovers-key-factor-alzheimer.html Alzheimer's disease & dementia Tue, 16 Apr 2013 06:10:01 EST news285310460 (Medical Xpress)—Children with autism have increased levels of genetic change in regions of the genome prone to DNA rearrangements, so called "hotspots," according to a research discovery to be published in the print edition of the journal Human Molecular Genetics. The research indicates that these genetic changes come in the form of an excess of duplicated DNA segments in hotspot regions and may affect the chances that a child will develop autism—a behavioral disorder that affects about 1 of every 88 children in the United States, according to the Centers for Disease Control. http://medicalxpress.com/news/2013-04-autism-linked-genetic-regions-genome.html Autism spectrum disorders Wed, 03 Apr 2013 09:59:49 EST news284201977 A pair of studies tells the tale of how a neuroscientist at Mayo Clinic in Florida helped to discover the first African-American family to have inherited the rare movement disorder dystonia, which causes repetitive muscle contractions and twisting, resulting in abnormal posture. The research may improve diagnosis of this neurological condition in a population not known to suffer from it. http://medicalxpress.com/news/2013-03-team-aids-discovery-dystonia-gene.html Genetics Thu, 07 Mar 2013 12:47:56 EST news281882665 (Medical Xpress)—By simultaneously investigating millions of gene variants in more than 5,000 individuals, researchers at the University of North Carolina at Chapel Hill reveal that genes that are responsible for nervous system development and immune function also play a role in an insidious gum disease known as chronic periodontitis. http://medicalxpress.com/news/2013-03-genes-nervous-role-gum-disease.html Genetics Tue, 05 Mar 2013 08:52:11 EST news281695918 The most common genetic cause of Parkinson's is not only responsible for the condition's distinctive movement problems but may also affect vision, according to new research by scientists at the University of York. http://medicalxpress.com/news/2013-02-uncovers-potential-link-parkinson-visual.html Parkinson's & Movement disorders Fri, 15 Feb 2013 12:31:55 EST news280153899 Mutations in single genes can cause catastrophic diseases, such as Huntington's Disease or sickle cell anemia. However, many conditions, including cancer, diabetes and birth defects are multigenic, arising from the collective failure of the function of more than one gene. http://medicalxpress.com/news/2013-01-deficiencies-genes-synergize-halt-formation.html Genetics Thu, 31 Jan 2013 10:51:08 EST news278851794 Research led by Dr. Udai Pandey, Assistant Professor of Genetics at LSU Health Sciences Center New Orleans, has found that the ability of a protein made by a gene called FUS to bind to RNA is essential to the development of Amyotrophic Lateral Sclerosis (ALS). This discovery identifies a possible therapeutic target for the fatal neurological disease. The research will be available online in the Advanced Access section of the journal Human Molecular Genetics website, posted by December 21, 2012. It will be published in an upcoming issue of the journal. http://medicalxpress.com/news/2012-12-discovery-therapeutic-als.html Genetics Wed, 19 Dec 2012 16:19:22 EST news275156355 A large international study has identified three new gene variants associated with body mass index (BMI) levels in adults. The scientific consortium, numbering approximately 200 researchers, performed a meta-analysis of 46 studies, covering gene data from nearly 109,000 adults, spanning four ethnic groups. http://medicalxpress.com/news/2012-10-genes-adult-bmi.html Genetics Thu, 25 Oct 2012 16:27:01 EST news270401008 (Medical Xpress)—Scientists have established a genetic mouse model for primary ovarian insufficiency (POI), a human condition in which women experience irregular menstrual cycles and reduced fertility, and early exposure to estrogen deficiency. http://medicalxpress.com/news/2012-08-early-menopause-mice-human-poi.html Genetics Thu, 30 Aug 2012 09:47:26 EST news265538835 Investigators at Nationwide Children's Hospital may have discovered a biological explanation for why low levels of oxygen advance spinal muscular atrophy (SMA) symptoms and why breathing treatments help SMA patients live longer. The findings appear in Human Molecular Genetics. http://medicalxpress.com/news/2012-08-oxygen-decrease-life-saving-protein-spinal.html Genetics Tue, 21 Aug 2012 15:54:15 EST news264783245 (Medical Xpress) -- A protein essential for metabolism and recently associated with neurodegenerative diseases also occurs in several brain-specific forms. This discovery emerged in the course of a research project funded by the Austrian Science Fund FWF, the findings of which have now been published in the journal Human Molecular Genetics. The scientists working on the project discovered a large new region in the genetic code of the protein PGC-1alpha. Previously unknown variations of the protein, which can be found specifically in the brain, are produced from this region. This discovery may provide tissue-specific starting points for the development of new treatments for neurodegenerative diseases like Huntington's, Parkinson's and Alzheimer's. http://medicalxpress.com/news/2012-07-brain-variants-protein-huntington-neurodegenerative.html Genetics Mon, 23 Jul 2012 07:30:14 EST news262247400 Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD). http://medicalxpress.com/news/2012-07-mutations-autism-susceptibility-gene-boys.html Autism spectrum disorders Thu, 12 Jul 2012 08:53:29 EST news261302002 (Medical Xpress) -- Researchers at Imperial College London have discovered a molecule that plays an important role in driving prostate cancer growth, and could be a target for new therapies. http://medicalxpress.com/news/2012-07-prostate-cancer-therapy.html Cancer Tue, 03 Jul 2012 05:48:25 EST news260513294 Scientists at UCLA have identified a new compound that could treat certain types of genetic disorders in muscles. It is a big first step in what they hope will lead to human clinical trials for Duchenne muscular dystrophy. http://medicalxpress.com/news/2012-06-compound-duchenne-md-inherited-diseases.html Genetics Wed, 27 Jun 2012 16:03:16 EST news260031774 The journal Computers in Biology and Medicine has published an article on the new IT application BootstRatio, created by IDIBELL researchers. The application allows online statistical analysis of data from gene expression. It is accessible through http://regstattools.net/br and any scientist is already to use it. http://medicalxpress.com/news/2012-04-application-online-statistical-analysis-gene-expression.html Genetics Tue, 03 Apr 2012 10:17:43 EST news252667053 Women who have eggs that cannot mature will not become pregnant, and they cannot be helped by in vitro fertilization (IVF). Now researchers at the University of Gothenburg, Sweden, have identified a molecule called Cdk1 that has an important function for mammalian egg maturation. In the future this could lead to an increased rate of successful IVF. http://medicalxpress.com/news/2012-03-discovery-molecule-maturation-mammalian-eggs.html Genetics Mon, 05 Mar 2012 16:22:08 EST news250186919 The offspring of women who were given micronutrient supplements (minerals needed in small quantities, such as iron, iodine and vitamin A) before they became pregnant had gene modifications at birth as well as when they were tested at 9 months. http://medicalxpress.com/news/2012-02-exposure-micronutrients-pre-pregnancy-gene-modifications.html Genetics Wed, 22 Feb 2012 12:03:04 EST news249134560 Mice genetically engineered to be susceptible to autism-like behaviors that were exposed to a common flame retardant were less fertile and their offspring were smaller, less sociable and demonstrated marked deficits in learning and long-term memory when compared with the offspring of normal unexposed mice, a study by researchers at UC Davis has found. The researchers said the study is the first to link genetics and epigenetics with exposure to a flame retardant chemical. http://medicalxpress.com/news/2012-02-common-flame-retardant-linked-social.html Genetics Thu, 16 Feb 2012 13:01:17 EST news248619630 Researchers have identified a potential drug therapy for a premature ageing disease that affects children causing them to age up to eight times as fast as the usual rate. http://medicalxpress.com/news/2011-11-cellular-premature-aging.html Genetics Wed, 02 Nov 2011 04:56:33 EST news239428573 (Medical Xpress) -- Dietary folic acid helps prevent a subset of neurological birth defects in humans -- although the precise mechanism by which it prevents them is unclear. Now, researchers have found that certain genetic mutations in mice that mimic these birth defects do not respond to a diet enriched with folic acid. Even more surprising, some of these mouse mutants actually have an increased incidence of the birth defect related to spina bifida when fed a diet high in folic acid. http://medicalxpress.com/news/2011-10-mouse-fickle-functions-folic-acid.html Genetics Thu, 06 Oct 2011 07:50:01 EST news237103923 In the first study to systematically investigate genome-wide epigenetic differences in a large number of psychosis discordant twin-pairs, research at the Institute of Psychiatry (IoP) at King's College London provides further evidence that epigenetic processes play an important role in neuropsychiatric disease. Published in Human Molecular Genetics, the findings may offer potential new avenues for treatment. http://medicalxpress.com/news/2011-09-twin-reveals-epigenetic-psychiatric-disorders.html Genetics Wed, 21 Sep 2011 10:51:01 EST news235821052 Using human breast cancer cells and the protein that causes fireflies to glow, a Johns Hopkins team has shed light on why some breast cancer cells become resistant to the anticancer effects of the drug tamoxifen. The key is a discovery of two genetic "dimmer switches" that apparently control how a breast cancer gene responds to the female hormone estrogen. http://medicalxpress.com/news/2011-07-breast-cancers-sensitivity-estrogen.html Cancer Wed, 27 Jul 2011 11:50:01 EST news230984527 Initially the occurrence of progressive retinal degeneration - progressive retinal atrophy, in man called retinitis pigmentosa - had been identified in Schapendoes dogs. Retinitis pigmentosa is the most common hereditary disease which causes blindness in humans. The researchers report on their findings, in Human Molecular Genetics. http://medicalxpress.com/news/2011-06-hereditary.html Ophthalmology Wed, 22 Jun 2011 09:44:54 EST news227954679