A drug that allows cells to ignore a particular type of disease-causing mutation may ease the symptoms of Duchenne muscular dystrophy (DMD), a mouse study suggests.
Many inherited diseases, such as DMD, 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. Online in Nature, Stuart W. Peltz and colleagues report that 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 drug is well tolerated, has a well-characterized activity profile and is selective for mutations that cause premature termination. So it's hoped that PTC124 will prove therapeutically useful for the many diseases with similar translation defects that have limited or no therapeutic options.
Stuart W. Peltz (PTC Therapeutics, South Plainfield, NJ, USA)
Michael Famulok (University of Bonn, Germany)
Additional media contact:
Jane Baj (PTC Therapeutics, South Plainfield, NJ, USA)
Abstract available online.
(C) Nature press release.
Message posted by: Trevor M. D'Souza