http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. A research team led by a Howard Hughes Medical Institute investigator at the University of California, San Francisco has identified a genetic mutation that is strongly associated with a typical form of migraine. http://medicalxpress.com/news/2013-05-genetic-mutation-linked-typical-migraine.html Genetics Wed, 01 May 2013 14:00:01 EST news286625251 (Medical Xpress)—The mystery of why some people get fat eating high-fat foods while others can stay skinny on a diet of burgers and chips is closer to being solved. http://medicalxpress.com/news/2013-05-mouse-clue-skinny-high-fat-diet.html Diabetes Wed, 01 May 2013 08:50:02 EST news286616255 Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are degenerative motor neuron diseases in which the key mutated genes are involved in RNA metabolism. This similarity suggests that a common dysregulation of some aspect of RNA metabolism in motor neurons may underlie both disorders, although the exact cellular effects of the neurodegenerative mutations are unknown. Koji Yamanaka, Hitomi Tsuiji and colleagues from the RIKEN Brain Science Institute and other institutions in Japan have now obtained evidence that a cellular structure that edits messenger RNA (mRNA) transcripts is defective in both of these motor neuron diseases. http://medicalxpress.com/news/2013-04-messenger-rna-transcripts-defective-motor.html Medical research Fri, 26 Apr 2013 09:00:01 EST news286184312 (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 Declining levels of the protein BubR1 occur when both people and animals age, and contribute to cell senescence or deterioration, weight loss, muscle wasting and cataracts. Mayo Clinic researchers have shown that adult progenitor or stem cells—important for repair and regeneration of skeletal muscle and maintenance of healthy fat tissue—are subject to cellular senescence, and that clearance of these cells limits age-related deterioration of these tissues. The findings appear today online in the journal Cell Reports. http://medicalxpress.com/news/2013-04-stem-cell-senescence-aging.html Medical research Thu, 18 Apr 2013 12:42:21 EST news285507734 Joslin scientists have discovered a mechanism that regulates the production of brown fat, a type of fat which plays an important role in heat production and energy metabolism. The findings, which appear in the upcoming issue of Nature, may lead to new therapies that increase BAT formation to treat obesity. http://medicalxpress.com/news/2013-03-team-mechanism-production-energy-burning-brown.html Medical research Wed, 13 Mar 2013 14:00:04 EST news282396182 (Medical Xpress)—Introductions at a party seemingly go in one ear and out the other. However, if you meet someone two or three times during the party, you are more likely to remember his or her name. Your brain has taken a short-term memory – the introduction – and converted it into a long-term one. The molecular key to this activity is mTORC2 (mammalian target of rapamycin complex 2), according to researchers at Baylor College of Medicine in an article that appeared online in the journal Nature Neuroscience. http://medicalxpress.com/news/2013-03-storage-mechanism-memory.html Neuroscience Tue, 05 Mar 2013 12:14:56 EST news281708089 Researchers at the Institute for Comprehensive Medical Science, Fujita Health University and the National Institute for Physiological Sciences, Japan, along with colleagues from 9 other institutions, have identified an exceptional mouse model of schizophrenia. After screening over 160 mutant mouse strains with a systematic battery of behavioral tests, they identified a mutant mouse lacking the Schnurri-2 protein (Shn-2 KO) that exhibits behavioral deficits and other brain features consistent with schizophrenia. Shn-2 is an NF-kappaB site-binding protein that binds enhancers of major histocompatibility complex class I genes and inflammatory cytokines, which harbor common variant single nucleotide polymorphisms associated with schizophrenia. The Shn-2 KO mice display behavioral abnormalities that resemble the symptoms of human schizophrenia, including working memory deficits, impaired nest building behavior (a measure of self-neglect), decreased social behaviors, and anhedonia (loss of the ability to experience pleasure). http://medicalxpress.com/news/2013-02-induction-mild-inflammation-cognitive-deficits.html Psychology & Psychiatry Wed, 06 Feb 2013 09:50:11 EST news279366453 Researchers at the University of Granada have produced for the first time in the world mice lacking the coenzyme Q10, a rare mitochondrial disease prevailingly affecting children. The researchers needed three years to complete the study. http://medicalxpress.com/news/2013-01-mutant-mouse-treatment-neuromuscular-diseases.html Genetics Tue, 29 Jan 2013 10:22:30 EST news278677342 (Medical Xpress)—According to the Centers for Disease Control, nearly 3 of every 100 babies in the U.S. are born with a birth defect. Among boys, one of the most common defects is the displacement of the urethral opening in the penis, a condition called hypospadias. http://medicalxpress.com/news/2013-01-mouse-mutant-path-birth-defect.html Medical research Wed, 16 Jan 2013 09:42:23 EST news277551737 (Medical Xpress)—Arterial stiffening has long been considered a major risk factor for cardiovascular disease. Keeping arteries soft and supple might reduce disease risk, but the mechanisms of how arteries stave off hardening has remained elusive. http://medicalxpress.com/news/2012-11-underlying-good-cholesterol-collagen-heart.html Cardiology Thu, 01 Nov 2012 17:01:45 EST news271008097 A study in The Journal of Cell Biology shows how a transcription factor called STAT3 remains in the axon of nerve cells to help prevent neurodegeneration. The findings could pave the way for future drug therapies to slow nerve damage in patients with neurodegenerative diseases. http://medicalxpress.com/news/2012-10-stay-at-home-transcription-factor-neurodegeneration.html Medical research Mon, 29 Oct 2012 13:10:20 EST news270734992 Death plays a big role in keeping things alive. Consider the tightly orchestrated suicide of cells—a phenomenon essential to everything from shaping an embryo to keeping it free of cancer later in life. When cells refuse to die, and instead multiply uncontrollably, they become what we call tumors. An intricate circuitry of biochemical reactions inside cells coordinates their self-sacrifice. Tracing that circuitry is, naturally, an important part of cancer research. http://medicalxpress.com/news/2012-09-uncovers-mechanism-tumor-suppressor-mig6.html Cancer Mon, 24 Sep 2012 09:41:26 EST news267698476 The study of muscular system protein myostatin has been of great interest to researchers as a potential therapeutic target for people with muscular disorders. Although much is known about how myostatin affects muscle growth, there has been disagreement about what types of muscle cells it acts upon. New research from a team including Carnegie's Chen-Ming Fan and Christoph Lepper narrows down the field to one likely type of cell. Their work is published the week of August 6 by Proceedings of the National Academy of Sciences. http://medicalxpress.com/news/2012-08-muscle-disease-therapeutic.html Medical research Mon, 06 Aug 2012 15:00:14 EST news263481097 The environment in which laboratory mice are reared can drastically alter the results of experiments and may have major implications for medical research around the world, according to new Australian data presented today at a meeting of The International Behavioral Neuroscience Society. http://medicalxpress.com/news/2012-06-modern-mice-pose-medical.html Medical research Tue, 12 Jun 2012 11:20:01 EST news258717615 Scientists at the Ottawa Hospital Research Institute (OHRI) and the University of Ottawa (uOttawa) have discovered that mice that lack a gene called Snf2l have brains that are 35 per cent larger than normal. The research, led by Dr. David Picketts and published in the prestigious journal Developmental Cell, could lead to new approaches to stimulate brain regeneration and may provide important insight into developmental disorders such as autism and Rett syndrome. http://medicalxpress.com/news/2012-05-mice-big-brains-insight-brain.html Genetics Tue, 15 May 2012 10:15:16 EST news256295665 Children with multiple hereditary exostoses (MHE), an inherited genetic disease, suffer from multiple growths on their bones that cause pain and disfigurement. But beyond the physical symptoms of this condition, some parents have long observed that their children with MHE also experience autism-like social problems. Buoyed by the support of these parents, researchers at Sanford-Burnham Medical Research Institute (Sanford-Burnham) used a mouse model of MHE to investigate cognitive function. They found that mice with a genetic defect that models human MHE show symptoms that meet the three defining characteristics of autism: social impairment, language deficits, and repetitive behavior. The study, published online the week of March 12 in the Proceedings of the National Academy of Sciences USA, also defines the molecular and physiological basis of this behavior, pinpointing the amygdala as the region of the brain causing autistic symptoms. http://medicalxpress.com/news/2012-03-molecular-basis-autistic-symptoms-children.html Diseases, Conditions, Syndromes Mon, 12 Mar 2012 15:00:06 EST news250774961 Stop exercising, eat as much as you want ... and still lose weight? It sounds impossible, but UC Irvine and Italian researchers have found that by blocking a natural, marijuana-like chemical regulating energy metabolism, this can happen, at least in the lab. http://medicalxpress.com/news/2012-03-blocking-natural-marijuana-like-chemical-brain.html Medical research Tue, 06 Mar 2012 12:48:26 EST news250260485 In a mouse model of Alzheimer's disease, memory problems stem from an overactive enzyme that shuts off genes related to neuron communication, a new study says. http://medicalxpress.com/news/2012-02-epigenetic-culprit-memory-decline.html Medical research Wed, 29 Feb 2012 13:00:07 EST news249734266 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 Bone marrow-derived stem cells (BMDCs) have been recognized as a source for transplantation because they can contribute to different cell populations in a variety of organs under both normal and pathological conditions. Many BMDC studies have been aimed at repairing damaged brain tissue or helping to restore lost neural function, with much research focused on BMDC transplants to the cerebellum at the back of the brain. In a recent study, a research team from Spain has found that BMDCs, can contribute to a variety of neural cell types in other areas of the brain as well, including the olfactory bulb, because of a mechanism of "plasticity". http://medicalxpress.com/news/2011-12-bone-marrow-derived-cells-differentiate-brain.html Medical research Mon, 19 Dec 2011 16:06:43 EST news243533185 A transparent cornea is essential for vision, which is why the eye has evolved to nourish the cornea without blood vessels. But for millions of people around the world, diseases of the eye or trauma spur the growth of blood vessels and can cause blindness. http://medicalxpress.com/news/2011-12-gene-humans-mice-cornea-transparency.html Genetics Mon, 12 Dec 2011 15:00:14 EST news242905384 The brains of individuals with Alzheimer's disease contain protein aggregates called plaques and tangles, which interfere with normal communication between nerve cells and cause progressive learning and memory deficits. Now, a research team led by Takaomi Saido from the RIKEN Brain Science Institute in Wako has identified a particular fragment of the amyloid precursor protein (APP) that contributes to the formation of plaques in the brain. http://medicalxpress.com/news/2011-12-characterizing-toxic.html Neuroscience Fri, 09 Dec 2011 06:50:02 EST news242635245 Is obesity a ciliopathy, a disorder such as polycystic kidney disease (PKD), which is triggered by a defect in the microscopic hair-like cilia that protrude from virtually every cell of humans and other vertebrates? http://medicalxpress.com/news/2011-12-obesity-ciliopathy-triggered-malfunctioning-primary.html Medical research Tue, 06 Dec 2011 13:30:01 EST news242399261 Scientists at Weill Cornell Medical College used genetic methods to successfully repair cleft lips in mice embryos specially engineered for the study of cleft lip and cleft palate. The research breakthrough may show the way to prevent or treat the conditions in humans. http://medicalxpress.com/news/2011-11-cleft-lip-genetically-mouse.html Genetics Mon, 28 Nov 2011 13:37:08 EST news241709809 Neuron transplants have repaired brain circuitry and substantially normalized function in mice with a brain disorder, an advance indicating that key areas of the mammalian brain are more reparable than was widely believed. http://medicalxpress.com/news/2011-11-rebuild-brain-circuitry.html Neuroscience Thu, 24 Nov 2011 14:00:01 EST news241361994 (Medical Xpress) -- A new study published last week in Science reveals the discovery of a brain pathway that helps us link events that happen close together and play a role in memories. http://medicalxpress.com/news/2011-11-brain-circuits-memory.html Neuroscience Mon, 07 Nov 2011 13:29:13 EST news239894936 Health care providers assess blood and tissue type as well as organ size and health to enhance transplant success. New research indicates that checklist might also need to include the circadian clock. http://medicalxpress.com/news/2011-10-circadian-clock-impact-transplant-success.html Medical research Tue, 04 Oct 2011 10:52:06 EST news236944310 Researchers have identified an unconventional path that may correct the defect underlying cystic fibrosis, according to a report in the September 2nd issue of the journal Cell. This new treatment dramatically extends the lives of mice carrying the disease-associated mutation. http://medicalxpress.com/news/2011-09-unconventional-path-cystic-fibrosis.html Medical research Thu, 01 Sep 2011 12:46:52 EST news234099944 Scientists at the Salk Institute for Biological Studies have found clues to the functioning of an important damage response protein in cells. The protein, p53, can cause cells to stop dividing or even to commit suicide when they show signs of DNA damage, and it is responsible for much of the tissue destruction that follows exposure to ionizing radiation or DNA-damaging drugs such as the ones commonly used for cancer therapy. The new finding shows that a short segment on p53 is needed to fine-tune the protein's activity in blood-forming stem cells and their progeny after they incur DNA damage. http://medicalxpress.com/news/2011-06-genome-guardian-dimmer-p53-life.html Genetics Thu, 30 Jun 2011 17:36:18 EST news228674160