Gene Discovery Could Lead to Cure of Dystrophy

Researchers say they have found the long-sought gene responsible for the most common form of muscular dystrophy, a discovery that could lead to the first direct treatment of the now incurable disease.

The Muscular Dystrophy Assn., which provided much of the financial support for the research, cautioned that the discovery would not immediately help children with Duchenne’s dystrophy, a form of muscular dystrophy that afflicts 20,000 to 50,000 American boys who will not be expected to survive beyond their 30s.

“We’re extremely encouraged and excited by this historic discovery,” said Donald Wood, the organization’s associate director of research. “It’s a very big step forward in our efforts to conquer this disease, but we still have a long way to go to develop treatments.”

Caps Years of Work

Discovery of the gene by Louis Kunkel, Anthony Monaco and colleagues at Children’s Hospital and Harvard Medical School in Boston caps several years of work by scientists around the world.

In a report being published today in Nature magazine, Kunkel and Monaco describe the isolation of a segment of genetic material that makes up about 10% of the Duchenne’s dystrophy gene. This piece of the gene can now be used to isolate the entire gene.

The researchers also report that the gene appears to serve as the blueprint for manufacture of a protein in muscle tissue. Duchenne’s dystrophy is an inherited disease marked by gradual death of muscle tissue. It occurs when the protein is missing or altered.

Scientists had assumed the defective protein responsible for the disease was located in muscle tissue, but so little was known about the ailment that scientists were unable to prove that until now.

Plans Next Step

Kunkel and his colleagues found that the gene had produced in muscle tissue a substance called messenger RNA, an intermediate step in the production of a protein by the gene.

Kunkel said Wednesday the next critical step in the research will be to identify the protein encoded by the gene, a task that could be accomplished within a year.

Once that happens, he said, “we can go back and look at patients, to see how their protein differs from normal, to understand the physiology of the disease.”

When the physiology is understood, researchers might be able to devise ways to alter it, possibly curing the disease.