Researchers discover molecular basis of a form of muscular dystrophyApril 30, 2008A team of French and German researchers report in the May 2008 print issue of The FASEB Journal (http://www.fasebj.org) that people with limb-girdle muscular dystrophy are missing a protein called c-FLIP, which the body uses to prevent the loss of muscle tissue. By targeting the cellular and molecular mechanisms responsible for creating this protein, scientists could develop new drugs to stop muscle wasting from limb-girdle muscular dystrophy and other conditions. "Unfortunately, rare diseases like limb-girdle muscular dystrophy don't get the attention or funding they deserve," said Gerald Weissmann, M.D., Editor-in-Chief of The FASEB Journal. "I hope that the breakthrough described in this study-the discovery of what regulates a protein that determines which muscle tissue stays and goes in our bodies-will lead to a range of new drugs for this form of muscular dystrophy and many others." To identify c-FLIP as a culprit in limb-girdle muscular dystrophy, the researchers used tissue from human biopsies to analyze the molecular pathways involved at each step of the disorder's progression. The researchers found that the c-FLIP protein, which is responsible for blocking the death of muscle cells, is not produced as it should in people with limb-girdle muscular dystrophy, and that the creation of the c-FLIP protein is controlled by another protein called calpain-3. According to the authors, this finding may have implications for other types of muscular dystrophy and other situations that cause the death of muscle fibers, such as long-term immobilization, denervation, aging, or cachexia. "Limb-girdle muscular dystrophy is a rare and devastating condition that robs people of movements that the rest of us take for granted," Weissmann added. "Fortunately, this study should provide researchers with a much-needed target for developing drugs to treat at least one of these conditions." According to the U.S. Muscular Dystrophy Association, limb-girdle muscular dystrophy is a group of disorders affecting voluntary muscles around the hips and shoulders, and it is caused by mutations in at least 15 genes responsible for making proteins needed for normal muscle function. As the disease progresses, people with limb-girdle muscular dystrophy may lose their ability to walk, get in and out of chairs, comb their hair, and feed themselves. Federation of American Societies for Experimental Biology |
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| Related Muscular Dystrophy Current Events and Muscular Dystrophy News Articles Treatment to improve degenerating muscle gains strength A study appearing in Science Translational Medicine puts scientists one step closer to clinical trials to test a gene delivery strategy to improve muscle mass and function in patients with certain degenerative muscle disorders. Possible help in fight against muscle-wasting disease A compound already used to treat pneumonia could become a new therapy for an inherited muscular wasting disease, according to researchers at the University of Oregon and the University of Rochester School of Medicine and Dentistry in New York. Exon-skipping drug prevents muscle wasting, maintains muscle function in dystrophin deficient mice An exon skipping PPMO has demonstrated dramatic effects in the prevention and treatment of severely affected, dystrophin and utrophin-deficient mice, preventing severe deterioration of the treated animals and extending their lifespan. To regenerate muscle, cellular garbage men must become builders For scientists at the European Molecular Biology Laboratory (EMBL) in Monterotondo, Italy, what seemed like a disappointing result turned out to be an important discovery. Zoo volunteers help explain mysteries of the genome As the University of Leicester approaches the 25th anniversary of the discovery of DNA fingerprinting (September 10), Leicester geneticists interested in a particular type of DNA are receiving some help from an unusual band of assistants. Small molecule inhibits pathology associated with myotonic dystrophy type 1 Researchers at the University of Illinois have designed a small molecule that blocks an aberrant pathway associated with myotonic dystrophy type 1, the most common form of muscular dystrophy. Researchers identify new function for protein missing in Duchenne muscular dystrophy Researchers at the University of Minnesota and National Institutes of Health have identified a new function for the protein missing in people with the most common and ultimately lethal form of childhood muscular dystrophy. Sticky protein helps reinforce fragile muscle membranes A new study by scientists at the University of Iowa shows why muscle membranes don't rupture when healthy people exercise. Stem cell surprise for tissue regeneration Scientists working at the Carnegie Institution's Department of Embryology, with colleagues, have overturned previous research that identified critical genes for making muscle stem cells. Researchers make progress toward early identification of muscular dystrophy The saying "Knowing is half the battle" is never more true than when discussing early treatment of disease. Muscular dystrophy is one such disease where patients can benefit from early treatment. Now, new research is moving doctors and scientists closer to disease diagnosis in advance of patient symptoms. More Muscular Dystrophy Current Events and Muscular Dystrophy News Articles |
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