Gene Therapy for Congenital Muscular Dystrophy

Labor Day Weekend in the U.S. is just around the corner and most of us will remember that it’s also the weekend for the annual Jerry Lewis Muscular Dystrophy Association Labor Day Telethon. This year’s telethon will be in memory of Mattie Stepanek, an internationally known boy wonder who was born with dysautonomic mitochondrial myopathy, a form of muscular dystrophy.

Researchers at the University of Pittsburgh School of Medicine report the successful use of adenovirus vectors to deliver the miniagrin gene into multiple muscle groups in mice affected by congenital muscular dystrophy (CMD). CMD is caused by genetic mutations in the laminin-alpha2 gene and miniagrin appears to compensate for laminin-alpha2 deficiency. The overexpression of miniagrin stimulated physical growth, improved movement, and quadrupled mice lifespan.

Mattie Stepanek was wheelchair bound for most of his life up until his death in June 2004. If gene therapy succeeds, other children like Mattie may be able to enjoy the physical freedom that he never had. Regardless, the spiritual freedom Mattie appreciated knew no limits.

Pointer from What’s New In Health.