Scientists Reverse Muscular Dystrophy in Mice

July 17 -- THURSDAY, July 16 (HealthDay News) -- Scientists have found a way to interfere with a stray genetic process critical in the development and progression of a major form of muscular dystrophy.

The strategy, described by researchers from the University of Rochester in the July 16 issue of Science, did alleviate symptoms of the debilitating disease and even, in some cases, reversed it but the successes have been seen only in mice so far.

"It's exciting. It's novel. It's very original but, to translate this into humans, there's still a long way to go," said Mendell Rimer, an assistant professor of neuroscience and experimental therapeutics at Texas A&M Health Science Center College of Medicine in College Station. "It's a step forward."

Another expert concurred.

"This is still early-stage preclinical work and therapy is not on the immediate horizon," said Dr. Valerie Cwik, senior vice president of research and medical director of the Muscular Dystrophy Association (MDA). "But this is proof of principle that you can impact the molecular underpinnings of myotonic dystrophy, which is an important step forward in trying to develop a therapy that affects so many systems in the body."

As Cwik explained, muscular dystrophy is "a multi-system disease" that can impact the brain, eyes, heart, gastrointestinal system and endocrine system, along with the muscles. "So trying to develop a therapy to target all of these systems or even several of them means you have to get at some of the underlying causes," she said.

According to the MDA, myotonic (muscle-stiffening) dystrophy is one of nine forms of muscular dystrophy, a group of genetic, degenerative and potentially disabling diseases which primarily affect voluntary muscles.

Myotonic dystrophy type 1 is the most common form of muscular dystrophy affecting adults. It is caused when a section of DNA is repeated on either chromosome 19 or chromosome 3, and results in muscles getting "locked" in the tensed state (myotonia) for long periods of time. Over time, patients experience progressive muscle wasting and weakness.