MDA-FUNDED RESEARCHER HELPS FIND
NEW GENE FOR TWO MUSCLE DISEASES
TUCSON, Ariz., Sept. 1, 1998 -- A multinational research team has identified a muscle protein gene that, when flawed, can cause two muscle-wasting diseases, the Muscular Dystrophy Association (MDA) announced today. The finding is likely to speed development of genetic diagnosis for these disorders and, ultimately, lead to treatments through gene therapy or other techniques.
The researchers say the gene for the newly named protein, "dysferlin," is on chromosome 2. They found that flaws, or mutations, in the gene can cause limb-girdle muscular dystrophy (LGMD), which also can be caused by at least six other genes, and Miyoshi myopathy, for which no gene previously has been identified.
Longtime MDA grantee and adviser Robert Brown Jr., assistant professor of neurology at Harvard University School of Medicine in Charlestown, Mass., led the team, which included investigators from the United States, Canada, France, Italy, Japan, Saudi Arabia, Spain and Tunisia. Masashi Aoki at Massachusetts General also received MDA support. The findings are in today's issue of Nature Genetics.
Another multinational team, coordinated by Kate Bushby of the Department of Human Genetics of the University of Newcastle Upon Tyne in England, identified the gene simultaneously and published results in the same issue of Nature Genetics.
LGMD is marked by progressive weakness beginning in the muscles of the shoulder and pelvic area. Miyoshi myopathy starts with weakness in one of the calf muscles and later spreads to other muscles.
"We're very encouraged by this finding," said Dr. Leon Charash, chairman of the MDA Medical Advisory Committee. "We're about to embark on safety trials in gene therapy for some of the muscular dystrophies, and finding new genes means more possibilities for intervention using gene therapy." Charash added that understanding this gene's functions could lead to other treatments as well, and that this and many other discoveries relating to neuromuscular diseases are fostered by public support of the Jerry Lewis MDA Labor Day Telethon airing Sept. 6-7.
"It's an interesting twist that this gene is associated with two forms of muscular dystrophy," Brown said. "We started working on what we thought was a very rare, 'orphan' disease and found that our work also applied to a more abundant form. It appears that 5 percent to 10 percent of cases of muscular dystrophy may result from mutations in this gene."
Since the 1980s, MDA-funded research has identified the genetic cause of nearly all forms of muscular dystrophy and many other neuromuscular disorders.
MDA scientists will soon present the Food and Drug Administration with protocols for safety trials of gene therapy in three forms of muscular dystrophy. They've already identified more than 160 candidates for the planned trials. Depending upon the FDA's reaction, clinical trials could begin late this year or early next year.
MDA is a voluntary health agency working to defeat 40 neuromuscular diseases through programs of worldwide research, comprehensive medical and community services, and far-reaching professional and public health education. The Jerry Lewis MDA Labor Day Telethon is broadcast nationwide by some 200 TV stations, to an audience exceeding 75 million viewers.
Recognized by the American Medical Association with a Lifetime Achievement Award "for significant and lasting contributions to the health and welfare of humanity," MDA maintains 230 hospital-affiliated clinics that offer families the best in care for progressive neuromuscular diseases.
MDA annually funds some 400 scientific teams worldwide. These investigators have made significant advances toward cures for several muscle-wasting diseases. They've pioneered breakthroughs that may well lead to therapies for heart disease, cancer, AIDS, Alzheimer's, Parkinson's, Huntington's and cystic fibrosis. For information about these gene therapy projects, MDA and/or referrals to MDA clinics, call 1-800-572-1717, or visit MDA's Web site at www.mda.org. MDA programs are funded almost entirely by individual private contributors.
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