Key to Triplet Repeat Brain Diseases Open Door For New Way To Understand, Treat Genetic Diseases"
...ein production.The genetic disease called myotonic dystrophy is an example of such a disorder. The interdisciplinary research under Roses was a key to the discovery, Vancesaid. "We are a group of clinicians, geneticists and molecular biologists.Only by working across disciplines could we have come up with suc......mmune polyendocrinopathy-candidiasis-ectodermal dystrophy The disease is mostly found in certain isolated populations such as among Finns, Iranian Jews and Sardinians. Clinically, APECED comprises of a variety of autoimmune manifestations affecting mainly endocrine organs, such as parathyroid gl...Duke Researchers Develop First Treatment For Rare Muscle Disease
... genetic muscle-wasting disease. Muscular dystrophy is a broad category of inherited diseases in whichthe body's muscles don't function normally. Usually, an important muscle proteinis missing or defective. Many doctors have been unsure if it is even possible toregenerate muscle tissue that has been d...Molecular "Fossils" Of Early Life
... diseases ranging from cystic fibrosis to muscular dystrophy andsickle cell anemia. Because DNA lends itself well to test-tube evolution techniques, it canbe synthesized readily in the laboratory, and different strains of enzymes canbe genetically engineered for specific purposes, Professor Breaker sai...Research Team Finds Gene Causing Two Types Of Muscular Dystrophy
...t appears that 5 to 10percent of cases of muscular dystrophy may result from mutations in this gene." He adds t...area the gene for one type of limb girdle muscular dystrophy (LGMD-2B)characterized by weakness that begins in the hips and shoulders. Subsequentwork by other g...Hopkins And International Team Maps First Major Cancer Gene To X Chromosome
...e and passed from mothersto sons, such as muscular dystrophy or hemophilia. The plausible explanation isthat a prostate cancer susceptibility gene lies on the X chromosome. "Mapping HPCX brings us one step closer to understanding the origins ofprostate cancer, at least in some families," says Francis ...New Test Spots ALD Carriers With Near-Perfect Accuracy
...her "sex-linked" diseases include Duchennemuscular dystrophy and hemophilia. If a male inherits the one of his mother'stwo X chromosomes that bears the altered gene, he's likely to get the disorder. Most women who have the gene are unaware that they're carriers. In 1981, Moser introduced the first t...Viral Vector Delivers Dystophin Gene To Mouse Muscle
...strophin to the muscles ofadult mice with muscular dystrophy without triggering their immune systems toattack t... for normal maintenance of muscle tissue. Muscular dystrophy is caused by mutations in a large, complex gene whichcontains instructions telling muscle cells how ...Cellular Target Of Leprosy, Deadly Viruses Found
...otein whose absence causes a fatalform of muscular dystrophy is also the target that the leprosy bacterium uses tolatch onto cells before invading them. And in an equally surprising twist, italso appears that two hemorrhagic fever viruses gain entry to cells via the samemolecular handle. These discoveries cou...Immortalizing Enzyme Does Not Make Human Cells Cancerous
...ere wounds;muscle stem cells for treating muscular dystrophy patients; and the cosmeticproduction of collagen. "The goal of our research is to increase our health span, not necessarilyour life span, by finding out how to keep our aging - but healthy - cellsgrowing and how to make our cancer cells senescen...UI Study Reveals Important Information About Molecular Defect In Limb Girdle Muscular Dystrophy
...stypes of limb girdle muscular dystrophy. Muscular dystrophy is a group of diseases characterized by hereditaryprogressive muscle weakness and degeneration. The unifying theme among limbgirdle varieties of the disease is the initial involvement of the shoulder andpelvic girdle muscles, with relative sparing of......terioration of muscle cells in limb girdlemuscular dystrophy and, perhaps, all other forms of the disorder. By removing a muscle in its entirety and then inducing rapid injury, theinvestigators learned that within minutes of a forced lengthening of individualmuscle fibers, there is a loss in the mechanical ...Plakin proteins brace nerve axons and allow for the transport of neurotransmitter vesicles
... of plakinprotein, develop a rare form of muscular dystrophy associated with skinblistering. "Learning more about the plakin proteins and their functions mayhelp us understand the nature of some severe neurodegenerative diseases better,"explains Fuchs. Other University of Chicago researchers on the paper incl......eing planned. "For those Duchenne muscular dystrophy patients with this particulartype of genetic mutat... kind of genetic error." Duchenne muscular dystrophy is caused by unwanted alterations in thegene that codes for a large protein called dystrophin, requi...Gene protects tubby mouse strain from hearing loss
...n mice similar to retinitis pigmentosa andcone-rod dystrophy in humans. Tubby mice develop hearing problems at three weeks of age, experiencingcochlear degeneration due to progressive loss of hair cells and neurons. Normalhearing results when sound waves cause the tiny hairs to oscillate, with themovem...Stem cells may be powerful gene shuttle
...mouse model of the human disease Duchenne muscular dystrophy (DMD). Likepatients with DMD, the mice do not produce the protein dystrophin, the absenceof which causes rapid and life-threatening deterioration of muscles. The researchers first irradiated female mice to eliminate any blood-related,or hematopoieti......esumed normal size. Limb girdle muscular dystrophy affects several thousand people in the UnitedState...approach may be applied to other forms of muscular dystrophy as well, such asthe more common lethal condition, Duchenne muscular dystrophy, which affects20,000 b...Why muscle strength seeps away: a new cause for muscular dystrophy
...surprising that a new form of limb girdle muscular dystrophy was first discovered in a large Brasilian family b...ne and a new form (LGMD2G) of limb girdle muscular dystrophy provides new diagnostic and therapeutic strategies for degenerative muscle diseases. Screening for ...New mouse marks latest stride in muscular dystrophy research
...otonic dystrophy, the most common form of muscular dystrophy in adults. Thornton's team at the University of R... will accelerate the discovery process." Myotonic dystrophy is a disease marked by progressive muscle weakness. Oftentimes patients first notice something's wro......ch is the same protein that is missing in muscluar dystrophy (MD). The researchers administered the protein to both groups of mice by enclosing the gsg in the recombinant adeno-associated virus (rAAV) a commonly used vector that has been described in previous scientific research as non-immunogenic. In one gro...