The study adds to research last year in the journal Nature. which published showed PTC124 restored up to 25 percent function in mice with spierdystrofie Duchenne van of the missing or abnormal protein.

"Our study shows strong pre-clinical evidence that PTC124 is capable of suppressing `nonsense mutations' that cause cystic fibrosis," said David Bedwell, Ph.D., professor in the UAB Department of Microbiology and lead author on the study. "We think this provides strong evidence for clinical trials with PTC124 in CF patients with this kind of mutation."

A gene that carries a `nonsense mutation' produces a shortened or faulty protein that degrades in the body. The absence of that protein is what leads to disease, Bedwell said. An estimated one - third of gene defects responsible for human disease are thought to come from `nonsense mutations.' In the case of CF, the absence of a certain protein leads to an imbalance of salt and water in the linings of the lungs and other membranes.

The UAB study showed that PTC124 allowed the protein to be made in mouse cells where it was previously absent, and it was delivered in a specific location that helped restore salt and water balance in membranes.

"The preclinical and clinical data on PTC124 support our hope that this drug will be an important disease-modifying therapy for cystic fibrosis," said Robert J. Beall, Ph.D., president and chief executive officer of the Cystic Fibrosis Foundation in Bethesda, Md. "We look forward to the next stage of clinical development to demonstrate the benefits of this promising therapy."

Also in the UAB study, PTC124 was shown to be highly selective for fixing only disease-causing mutations, while it spared normal genes, Bedwell said.

The compound has been orphan-drug de spierdystrofie and CF. according to van status by the U.S. Food and Drug Administration for the treatment of Duchenne the biopharmaceutical company PTC Therapeutics. Inc. of South Plainfield. N.J. It works in an oral form.

The UAB study was funded by PTC Therapeutics with assistance from the National Institutes of Health.

: Van Editor note Bedwell reports a consulting relationship with PTC Therapeutics.