New mouse aids in dystrophy research

ost days, neurologist Charles Thornton spends some time away from his patients and heads for the laboratory, where he works with mice. His forays in the lab have helped him and his team develop a new kind of mouse that may someday help doctors around the world treat patients with myotonic dystrophy, the most common form of muscular dystrophy in adults.

Thornton's team at the Medical Center has generated mice with symptoms that mimic those of patients with myotonic dystrophy, a disease marked by progressive muscle weakness. The mice provide the first animal model for a disease that affects about 40,000 Americans. Already, research with the mice has pointed to an unexpected disease-causing role for a molecular messenger, mRNA, that has long been considered simply an information carrier, not a trouble maker. Faulty messenger RNA accumulates in the nuclei of cells in the muscles of the mice, clumping together and somehow damaging muscle fibers. The team's results appeared in the September 8 issue of Science.

Thornton, associate professor of neurology and co-director of the Neuromuscular Disease Center, and his team are trying to figure out exactly how the clumps of mRNA hurt cells. RNA can be large, convoluted molecules with more loops and turns than any roller coaster, and it's possible that the molecules are getting in the way of other proteins that normally travel within the nucleus to do their jobs. Or the extra mRNA may latch on to other molecules and prevent them from attaching where they should.

In addition to clinical trials involving human patients, Thornton hopes to begin testing potential new treatments in mice within a few months. His group is making the animals available to researchers at other centers throughout the world for their research projects.

Also taking part in the research are neurologists Ami Mankodi and Eric Logigian, instructor Linda Callahan, and technical associates Carolyn McClain, Robert White, Don Henderson, and Matt Krym. This work was supported by the Muscular Dystrophy Association, the American Federation for Aging Research, and the Saunders Family Neuromuscular Research Fund, funded by Rochester businessman Phillip Saunders and his family.

Maintained by University Public Relations
Please send your comments and suggestions to:
Public Relations.