Research Team Finds Gene Causing Two Types Of Muscular Dystrophy

BOSTON -- An international research team based at the Massachusetts General Hospital (MGH) has discovered a gene that, when mutated, causes two types of muscular dystrophy. The gene found on chromosome 2 codes for a novel protein called dysferlin, produced in skeletal muscles. Mutations in dysferlin were seen in several families in which members had either Miyoshi myopathy, a very rare muscle disorder, or one form of limb girdle muscular dystrophy, a more common condition. The report appears in the September issue of Nature Genetics.

"It's an interesting twist that this gene is associated with two forms of muscular dystrophy," says Robert H. Brown Jr., MD, director of the Day Neuromuscular Research Laboratory at the MGH and leader of the study. "We started working on what we thought was a very rare, orphan disease and found that our work also applied to a more abundant form. It appears that 5 to 10 percent of cases of muscular dystrophy may result from mutations in this gene." He adds that identifying the gene will help improve diagnosis of these particular disorders and eventually could lead to treatment methods that address specific muscle defects.

The muscular dystrophies are genetic diseases characterized by progressive weakness and deterioration of the skeletal muscles, which control movement. There are nine major forms of muscular dystrophy, some of which include several distinct diseases; more than 20 gene defects have been associated with the various types. While some of the more common forms appear in childhood, other forms may produce symptoms that appear in adolescence or adulthood. The progression and prognosis of the disorder, along with the particular muscles affected, depend on the specific form of muscular dystrophy.

"We're very encouraged by this finding," says Leon Charash, MD, chairman of the Medical Advisory Committee of the Muscular Dystrophy Association. "We are a

Contact: Susan McGreevey
(617) 724-2764
Massachusetts General Hospital

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