Alumni & Friends
LAS Alumni Information
Alumni Network
Biology
Mice Study Identifies Promising Treatment for Muscular Dystrophy
Mice carrying the same gene deficiencies as humans with Duchenne muscular dystrophy experienced dramatic improvements in both their physical condition and lifespan following an experimental treatment by researchers in LAS.
By enhancing the production of a naturally occurring molecule on muscle tissue, the scientists reduced muscular problems and increased the lifetime of affected mice threefold. This work suggests that a gene therapy or a pharmaceutical approach targeting the molecule may be possible for human treatment, says Stephen J. Kaufman, professor of cell and structural biology.
The molecule in question—the alpha 7 integrin—was discovered by Kaufman's lab in 1985. A deficiency of this molecule exists in several forms of congenital muscular dystrophy. Conversely, Kaufman, along with colleague Dean J. Burkin, two graduate students, and David J. Kaufman of the National Cancer Institute in Bethesda, MD, found that more of the integrin is present in Duchenne patients. These patients fail to produce another protein, dystrophin, which muscles require for structural and functional integrity. This discovery led to the idea that excess integrin may compensate for the lack of dystrophin and another similar protein, utrophin.
Duchenne muscular dystrophy, caused by a recessive genetic defect, affects one in 3,300 males. The disease usually begins in early childhood and often is fatal by age 30. It is the most prevalent of the muscular dystrophy family of neuromuscular diseases.
Summer 2001