Gene variation increases SIDS risk in African Americans
... no known health problems. Their search focused on abnormalities in a gene called SCN5A, which has been associated with abnormal heart rhythms. Overall, the team found common and rare changes in this gene in five percent of SIDS deaths in African Americans. One specific variation, known as Y1103, was known to con...Mutation in brain cells of descendants of Abraham Lincoln suggest he suffered from movement disorder
...t can respond to glutamate could lead to signaling abnormalities over time," said Rothstein. "And over time, that could cause Purkinje cell death and lead to the symptoms of SCA5." A further implication of these findings is that SCA5 mutations could affect the complex movement of proteins in other nerve cells, the...Biodesign and TGen form joint Center for Systems and Computational Biology
...ania. The underlying genetic cause was found to be abnormalities in a specific gene. Mapping and identification of the gene was performed in less than two months from start to finish. Poste explains that, despite knowing that diseases and patients are not uniform, medical science is currently unable to tailor ther...Aggressive subtype of breast cancer displays 'misbehavior' of X chromosomes
...of Cancer Cell provides evidence that X chromosome abnormalities contribute to the pathogenesis of both the sporadi...'s Hospital, examined whether sporadic BLC display abnormalities in the management of the Xi chromosome. The researchers found that, like BRCA1-associated cancers, ...Engineered mouse mimics cognitive aspects of schizophrenia
...hers also based their experiments on evidence that abnormalities in the brain region known as the striatum can affect cognitive function in schizophrenics--by indirectly influencing the prefrontal cortex, a major center for cognitive function. To mimic the hyperactive dopamine machinery, the researchers created a ...Chromosome rearrangements not as random as believed
...e structures may play a broader role in chromosome abnormalities beyond the t(11;22) rearrangement....Wildlife researchers identify impacts of contamination in amphibians
...nd their offspring were examined for developmental abnormalities such as structural malformations and abnormal swim...CBs)," says Hopkins. "The presence of reproductive abnormalities in animals that transfer contaminants to their eggs illustrates how maternal transfer is very ecolog...News tips from the Journal of Neuroscience
...al phenotypes vary widely, in contrast to the mild abnormalities caused by heterozygous loss of function. Thus Wrabetz et al. explored the hypothesis that MPZ -neuropathies are attributable to gain of function mutations. They examined transgenic mice expressing MPZ mutations at S63, either S63del or S63C. S63de...Study implicates potassium channel mutations in neurodegeneration and mental retardation
...y a role in learning. Previous studies have found abnormalities in the number of potassium channels in Parkinson's...udy, these findings suggest that potassium channel abnormalities may contribute to a wide variety of neurodegenerative diseases. "This paper is a good example of how...Evaluation of patients treated with natalizumab finds no new cases of PML
... IAC because of clinical findings of possible PML, abnormalities on MRI, or a high blood level of JC virus. None of them had detectable JC virus DNA in the cerebrospinal fluid. Only the three previously reported cases of PML were confirmed. The data suggested that the risk of PML associated with natalizumab was ...X chromosomes key to sex differences in health
...hile females affected by the same mutation develop abnormalities in hair, teeth and skin. Mosaicism also leads to differences among females with such diseases; because women can have different ratios of cells expressing mutated and non-mutated genes, the conditions can manifest and progress at varying rates and w...Researchers identify new childhood-onset epilepsy disorder and its genetic cause
..., if not all, epileptic disorders can be traced to abnormalities of brain structure or chemistry that alter the electrical activity of nerve cell networks. The children in this study have autistic traits, also thought to be caused by disrupted nerve cell networks. The finding, which is published in the March 30th...Gene mutation causes lethally low-fat diet
...n the mutants' digestive organs. Their livers have abnormalities in the cells and ducts that produce bile--a salty, somewhat soapy fluid that helps lipid digestion. Certain pancreatic cells are also flawed, interfering with the production of digestive enzymes necessary for the breakdown of complex lipid molecules....Heavy horseriders they're a pain in the back!
...directly affect equine performance, causing spinal abnormalities in racehorses and showjumpers. On Tuesday 4th April, at the Society for Experimental Biology's Main Annual Meeting in Canterbury [session A7], Patricia de Cocq will present novel data showing that when a horse bears the weight of a rider it adjusts ...Blood pressure medication may revolutionize treatment of Marfan syndrome
...ened mitral valves, craniofacial deformities, lung abnormalities - only be explained by structural deficiency? "It just didn't add up," he said. In the course of their work, Dietz's lab developed a mouse model of Marfan syndrome by genetically engineering a mouse with a mutation in the fibrillin-1 gene. Genetical...New research may explain why some who receive growth hormone therapy develop colon polyps
...y be fundamental to dictating your risk of getting abnormalities in the colon." On the other hand, Lund's research may apply to the variations found in response to growth hormone therapy for the gastrointestinal tract. This would include people with short-bowel syndrome, a group of problems affecting individuals w...Researchers now able to look deep into heart to view triggers of a heart's beat
...ell to return to its repolarized state. Structural abnormalities of potassium channels have been associated with a hereditary condition called Long QT Syndrome, which affects between 5,000 and 10,000 people in the United States and can have fatal consequences, with boys and women with the syndrome at greatest risk...Jefferson scientists uncover lethal gene mutation key to blocking cholesterol processing
...ol absorption take place. Specifically, they found abnormalities in the Golgi apparatus, which holds newly made or recycled proteins that help with fat metabolism and transport. The scientists used a strategy called positional cloning both to locate fat free in the zebrafish genome and to determine its sequence. T...Potential vaccine developed for deadly leishmaniasis disease
...eral leishmaniasis include fever, weight loss, and abnormalities of the liver and spleen....Technique makes it easier to see mouse embryo in all its glory
...o study the mouse embryo and more rapidly focus on abnormalities of development, including childhood cancers. Birth defects are diagnosed in 150,000 babies in the U.S. annually. Suspected causes are genetic abnormalities, environmental insults, and drug and chemical exposures. Charles Keller, M.D., assistant pro...