New Insight Gained in Muscular Dystrophy

U.S. scientists have identified a key genetic component of, and possible therapeutic target for, Duchenne’s muscular dystrophy.

The disease is the most common form of muscular dystrophy, affecting about 1 in 3,000 males each year. It is an X-linked recessive disease, in which mutations in the dystrophin gene causes progressive and degenerative muscle weakness.

Bruce Spiegelman of the Dana Farber Cancer Institute and colleagues using a mouse model found a protein called PGC-1alpha activates the expression of several genes that are aberrantly inactivated in the disease. By inducing PGC-1alpha expression in transgenic mice, the scientists were able to improve disease symptoms.

These data clearly show that experimental elevation of PGC-1 alpha has therapeutic promise in an animal model of Duchenne’s muscular dystrophy, said Spiegelman. We hope this will lead eventually to therapeutics for a terrible disease for which there is no effective treatment at the present time.

The research appears in the journal Genes & Development.