New MD Treatment Suggested By Mouse Study

A U.S. mouse study suggests a small molecule might ease the symptoms of Duchenne muscular dystrophy, the most common form of the disease.

Many inherited diseases — such as Duchenne muscular dystrophy, cystic fibrosis and lysosomal storage disorders — result from premature termination during translation of a messenger RNA into a protein. Consequently, an abnormally short protein is made.

But a study conducted by Stuart Peltz and colleagues at PTC Therapeutics Inc. shows a small molecule, PTC124, enables the translation machinery to bypass sites that cause premature termination, but still terminate normally at the end of the mRNA.

In human and mouse cells, the drug restores normal translation of the gene that is mutated in DMD and restores muscle function in a well-known mouse model of the disease.

The research is detailed online in the journal Nature.