Science / Medicine : Protein, Dystrophy Linked

In the latest in a series of landmark studies involving muscular dystrophy, researchers reported last week they had identified a protein defect that apparently causes a less severe form of the crippling disorder.

The findings reported in the New England Journal of Medicine will enable doctors to better diagnose various forms of the disease and should help in the search for treatments, experts said.

“We’ve scored another key victory in uncovering the causes of muscular dystrophy--learning what must be set right to cure these devastating diseases,” said Dr. S. Mouchly Small, president of the Muscular Dystrophy Assn.

In the latest findings, Louis M. Kunkel of Children’s Hospital in Boston and his colleagues examined tissue samples from the muscles of 103 patients with various neuromuscular disorders, including several types of muscular dystrophy.

Most of the patients with severe cases of Duchenne’s muscular dystrophy, the most common form, had very low levels or no detectable levels of the protein dystrophin. Patients with a less severe form of muscular dystrophy that progresses more slowly, known as Becker’s muscular dystrophy, had a defective form of the protein. Normal levels of dystrophin were found in nearly all the patients with 20 other neuromuscular disorders.