Scientists at the Scripps Research Institute have discovered molecules that allow control over the most common adult onset form of muscular dystrophy. Their findings were published in the latest issue of the journal Nature Communications.
“This is the first example I know of at all where someone can literally turn on and off a disease,” said TSRI Associate Professor Matthew Disney. “This easy approach is an entirely new way to turn a genetic defect off or on.”
Myotonic dystrophy, an inherited disorder, is the most common form of a group of muscular dystrophies that progressively deteriorate the muscles. It is cause by an RNA defect called “triplet repeat” in which a series of three nucleotides are repeated more times than normal in an individual’s genetic code.
Disney’s team developed three new compounds, looking at their effect on human muscle tissue both with and without the defect. Diseased muscle with the RNA-binding compound caused the disease to go away.
“In complex diseases, there are always unanticipated mechanisms,” he said. “Now that we can reverse the disease at will, we can study those aspects of it.”
Muscular Dystrophy 