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news.A new drug developed by PTC Therapeutics which targets specific gene defects has restored muscle function in mice, and could potentially help many patients with genetic diseases according to scientists.
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Researchers from PTC and at the University of Pennsylvania School of Medicine have for the first time demonstrated restoration of muscle function in a mouse model of Duchenne’s muscular dystrophy (DMD). In DMD, patients are missing dystrophin, a protein that helps keep muscle cells intact. The new drug, called PTC124, overrides a mistake in the genetic code which halts the production of properly make whole proteins.
“This new class of treatment has the potential to help a large number of patients with different genetic diseases that have the same type of mutation,” says senior author H. Lee Sweeney, chair of the Department of Physiology at Penn. This genetic flaw causes from 5 to 15% (and in a few instances up to 70%) of individual cases of most inherited diseases, including DMD, cystic fibrosis, and hemophilia.
The new drug, developed by the South Plainfield, NJ-biotech firm and called PTC124, binds to the ribosome, a cellular component where the genetic code is translated into proteins, one amino acid at a time. The drug allows the ribosome to read through a mistake in the genetic code called a premature stop codon in order to properly make whole proteins.
Dr Sweeney added, “Enough dystrophin accumulated in the muscles of the MD mice so that we could no longer find defects in the muscles when we examined them. For all intents and purposes the disease was corrected by treatment with PTC124.” The drug allowed dystrophin to be made in cells in which it was previously absent, to be delivered to the proper location at the cell membrane, and to induce restoration of muscle function in rodent muscles.