Unknotting DNA clue to cancer syndrome
... ... Neil Hunter, assistant professor of microbiology at UC Davis, and his colleagues studied the equivalent protein in yeast, SGS1. They fo...Discoverer of Sly Syndrome finds way of delivering medicine to fight rare genetic disorder
... ... Ever since William S. Sly, M.D., chairman of th...Researchers discover gene responsible for Restless Legs Syndrome
... Restless legs syndrome is a condition that produces an intense, often irresistible urge to move the legs and is a major cause of insomnia...Metabolic syndrome -- don't blame the belly fat
... But with the help of powerful new imaging technologies, a team of Howard Hughes Medical Institute (HHMI) researchers at Yale University School of Medicine has found that insulin resistance in skeletal muscle leads to alterations in energy storage that set the stage for the metabolic syndrome. ....Study offers treatment hope for Rett syndrome
... ... ... The research, led by the University of Edinburgh in collaboration with the University of Glasgow, focused on the behaviour of th...Angelman syndrome deficits rescued in mice
... ... ... The results, which appear in the March issue of Nature Neuroscience...Researchers identify fifth gene responsible for Joubert syndrome
An international study by researchers at Seattle Childrens Hospital Research Institute, the University of Washington School of Medicine, and Radboud University in Nijmegen, Netherlands has identified a new genetic cause for Joubert syndrome (JS). Joubert syndrome is an inherited condition that affects development of the cerebellum and brainstem, the structures in the brain that coordinate moveme...Fragile X syndrome -- A stimulating environment restores neuronal function in mice
... ... To understand the details of the neuronal pathology of Fragile X syndrome, the researchers studied mice in which the same gene that causes the disease in humans had been knocked out. The scientists performed a detailed analysis of the electrophysiological properties of neurons in the prefrontal c...Studies assess effectiveness of serotonin and nerve stimulants on irritable bowel syndromes
WASHINGTON, D.C. (May 21, 2007) Studies have shown that gastrointestinal (GI) tract function is often influenced by specific stimulants or reactors, which sometimes cause irritable bowel syndrome (IBS) or constipation. Two studies presented today at Digestive Disease Week 2007 (DDW) take a closer look at GI stimulation, including one examining the role of serotonin and reactions to certain typ...U of M researchers find new, more effective treatment for toxic shock syndrome
Researchers at the University of Minnesota and the University of Illinois at Urbana-Champaign have developed a new therapeutic that neutralizes Toxic Shock Syndrome (TSS) more effectively than other treatments.... Toxic Shock Syndrome is a rare, life-threatening bacterial infection that can cause multi-organ failure and death. A major cause of the disease is a superantigen called staphylococcal...Cherries may help reduce metabolic syndrome and heart disease risk factors
... ... "Metabolic syndrome is a cluster of traits that can greatly increase your risk of heart disease, stroke and Type 2 diabetes, so it's a serious condition that significantly affects public health," said study co-author Dr. Steven F. Bolling, a...Cholesterol could be key to treating fetal alcohol syndrome
... Cholesterol is so important to fetal development that pregnant women who do not have high enough cholesterol levels are at increased risk of having babies with developmental problems, even without consuming alcohol. Researchers at Duke University Medical Center, led by Yin-Xiong Li, MD., Ph.D., found that alcohol, even in small amounts, blocks...Rare mutation causes early heart disease and metabolic syndrome
...New Haven, Conn.Yale School of Medicine researchers have identified a rare defect in a single gene that poses a substantial risk for metabolic syndrome and early heart disease, the leading cause of death worldwide....... The international study, led by Arya Mani, M.D., assistant professor of cardiology, and Richard Lifton, M.D., chair of genetics at Yale, identifies a new pathway implicated...Shortening chromosomes cause for earlier cancer onset in families with rare syndrome
... Their results, published in the February 15 issue of the journal Cancer Research, could represent the first biological marker for clinical monitoring in families with Li-Fraumeni syndrome, and could shed light on th...Proteases cause pain in irritable bowel syndrome
... In the study, which appears online on February 15 in advance of publication in the March p...Beyond nature vs. nurture: Williams syndrome across cultures
... Scientists at the Salk Institute for Biological Studies have found a clever way to sort one from the other: They compared the social behavior of children with Williams syndrome known for their innate drive to interact with people across cult...'Diabetes gene' may be linked to polycystic ovary syndrome
(BETHESDA, MD) -- Polycystic ovary syndrome (PCOS) occurs when ovarian cysts block a woman's normal ovulation and menstrual cycle. While the problem sounds straightforward, the disease is complex, born from both multiple genetic components and environmental factors. PCOS affects up to five percent of the female population, and those diagnosed with the disease have a 2- to 7-fold risk of developi...Study uncovers mutation responsible for Noonan Syndrome
... Led by researchers at Harvard Medical School-Partners Healthcare Center for Genetics and Genomics (HPCGG) and Beth Israel Deaconess Medical Center (BIDMC), the findings are reported in the December issue of Natu...New insight about the source of anxiety in Rett syndrome
... "This is one of the first symptoms that we can link to a molecular cause," said Dr. Huda Zoghbi, professor of pediatrics, neurology and molecular and human genetics at Baylor College of Med...New findings may lead to treatment for anxiety in Rett Syndrome
The classic form of Rett Syndrome (RTT) shows us a child who is the picture of anxiety: she wrings her hands, hyperventilates, trembles. The sinister progression of the disorder, which usually begins to manifest between the ages of 6-18 months, includes loss of acquired skills, speech and mobility, sometimes an autistic-like withdrawal, sometimes months of inconsolable crying. A majority of girl...Malaria drug may treat metabolic syndrome's many symptoms
... Researchers, led by Clay F. Semenkovich of Washington University School of Medicine and Michael B. Kastan of St. Jude Children's Research Hospital, found in studies of mice that the antimalaria drug chloroquine improved symptoms of metabolic syndrome; the drug reduced...A potential biological cause for sudden infant death syndrome
... SIDS is the leading cause of death in American infants after the newborn period, affecting 0.67 in 1,000 live-born babies. Although epidemiologic studies have identified risk factors for SIDS, such...How Rett Syndrome mutation targets the brain
... .....Down syndrome: It's not just the age factor
Whether or not a pregnant woman will give birth to a child with Down Syndrome is not simply a matter of how old she is. Although it is a fact that as women get older, they are more likely to have a child with Down Syndrome, other factors also play a role. According to Markus Neuhuser and Sven Krackow, from the Institute of Medical Informatics, Biometry and Epidemiology at University Hospital E...New study reveals Rett syndrome can strike males
... ... "Worldwide there have only been 11 previously established cases in boys who have presented early in l...Insulin pathway component explains insulin resistance, age-associated metabolic syndrome
La Jolla, Calif. -- Metabolic syndrome, an aging-associated group of disorders that includes insulin resistance, heart disease and high lipid levels, may be treatable thanks to a newly discovered role for a regulatory gene, according to a team of scientists at the Burnham Institute for Medical Research. ... In addition, the scientists found that this single gene may contribute to the body's resp...Uterine cancer may be clue to inherited syndrome
... ... People with Lynch syndrome mutations are at high risk for colon, endometrial, ovarian and gastric cancer. Endometrial, or uterine, cancer is the most common cancer in women with...Gene mutations responsible for Rett syndrome in females present sporadically in males
July 13, 2006 (Baltimore, MD) -- Gene mutations that are responsible for the majority (seventy to eighty percent) of cases of Rett syndrome (RTT) in females are not always lethal in males prior to birth, refuting previous assumptions, and can occur sporadically in infant males without a family history of the disorder. A study published in the journal Neurology reports four sporadic occurrences...New Down syndrome gene identified by Stanford/Packard scientists
... ... "We may now have the opportunity to make a big difference in...Cause of neuronal death in Down's syndrome, Alzheimer's disease could be surprisingly simple
... ... The growth-regulating "neurotrophins" whose functional failure they studied are taken up by neurons in sac-like carriers called "endosomes" and transported to the mai...Protein tied to usher syndrome may be hearing's 'Missing Link'
A protein associated with a disorder that causes deafness and blindness in people may be a key to unraveling one of the foremost mysteries of how we hear, says a study in the June 28 issue of the Journal of Neuroscience. Scientists with the National Institute on Deafness and Other Communication Disorders (NIDCD), one of the National Institutes of Health (NIH), and the University of Sussex, Bright...ENDO 2006 offers breaking research on the metabolic syndrome, obesity, hormones in women and more
This year's annual meeting of The Endocrine Society, ENDO 2006, is packed with appearances from powerful medical leaders from top medical associations plus the latest scientific developments as the world's leading endocrinologists gather to unravel medical mysteries and debate some of medicine's most highly controversial topics.... ...In addition to releasing breaking science on topics such as th...RSRF-funded research links Rett syndrome to mitochondrial gene
New research from the lab of Adrian Bird, a molecular geneticist at the University of Edinburgh, Scotland, reveals that abnormally high levels of a protein called Uqcrc1 in the brains of mouse models of Rett Syndrome cause mitochondria--the cells' powerhouses--to work overtime. "This is the first time a mitochondrial gene has been linked to Rett Syndrome," says Dr. Bird. Co-author Skirmantas Kria...Blood pressure medication may revolutionize treatment of Marfan syndrome
A commonly prescribed blood pressure medication may provide the first ray of hope in preventing potentially deadly complications of Marfan syndrome, a genetic disease that weakens the structural meshwork of blood vessels. People who have Marfan syndrome have a high risk of developing aortic aneurysm, which can lead to rupture of the heart's largest artery, causing sudden death....... In studies p...Removing DNA repair gene causes metabolic syndrome
PORTLAND, Ore. Removing a gene involved in repairing damaged DNA causes mice to develop the metabolic syndrome, researchers at Oregon Health & Science University have discovered.... ...Scientists at OHSU, the University of Texas Medical Branch and the University of Alabama found that generating mice that lack the gene encoding the DNA repair enzyme NEIL1 causes them to develop severe obesity and...Older adults may reduce risk of metabolic syndrome by eating more whole grains
With the recent revision of the Food Guide Pyramid, the Dietary Guidelines for Americans have for the first time provided the public with a quantitative recommendation for whole-grain intake. In a study published in the January issue of American Journal of Clinical Nutrition, researchers at the Jean Mayer USDA Human Nutrition Research Center on Aging at Tufts University (HNRCA) found that consumi...New route to therapy for Rett syndrome?
While current treatments for Rett syndrome aim only at alleviating symptoms--including drugs to control seizures or aid motor coordination or breathing--a new study by Rudolf Jaenisch and colleagues raises the possibility of therapies targeting the root cause of the disease. They reported their discoveries in an article in the February 2, 2006, issue of Neuron....... Rett syndrome is the most com...Brain derived neurotrophic factor alleviates disease symptoms in a mouse model of Rett Syndrome
Scientists from the Whitehead Institute for Biomedical Research, Brandeis University and Massachusetts Institute of Technology report in the February 2 issue of the journal Neuron that increasing levels of brain derived neurotrophic factor (BDNF) alleviates symptoms in a mouse model of the childhood disorder Rett Syndrome. ...... Rett Syndrome (RTT) is a severe neurological disorder diagnosed alm...Researchers alleviate symptoms of Rett syndrome in mice
Rett syndrome is a debilitating neurological disorder occurring primarily in girls. While some existing therapies might ease particular symptoms of the condition, there is no current way to address the syndrome at a molecular level. Now, researchers at Whitehead Institute for Biomedical Research, in collaboration with scientists at Brandeis University, have dramatically reduced certain manifestat...Three-week diet/exercise study shows 50 percent reversal in metabolic syndrome, Type 2 diabetes
Obese and overweight individuals suffering metabolic syndrome and Type 2 diabetes showed significant health improvements after only three weeks of diet and moderate exercise even though the participants remained overweight. ... ..."The study shows, contrary to common belief, that Type 2 diabetes and metabolic syndrome can be reversed solely through lifestyle changes," according to lead researcher...