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 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. 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.