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Targeting Specific Mutations Reveals Promising New Approach to,Treating Genetic Disorders; Preclinical Data Published in Nature

p>Genetic disorders, such as DMD and cystic fibrosis (CF) are caused by genetic alterations, known as mutations. By targeting a specific type of genetic alteration -- nonsense mutations -- PTC124 bypasses the defect and leads to the restoration of a functional protein. The Nature paper highlights the data obtained from PTC's work in a mouse model of DMD in which a nonsense mutation precludes the production of dystrophin. Loss of functional dystrophin, an important muscle protein involved in maintaining the strength of muscle fibers, results in DMD. The data demonstrate that PTC124 allows dystrophin to be made in cells in which it was previously absent, to be delivered to the proper cellular location, and to induce restoration of muscle function. In addition to the studies described in the Nature paper, PTC has demonstrated in preclinical studies that PTC124 restores the presence of the missing protein in CF caused by nonsense mutations. Similar to the effect in DMD, PTC124 induces production of CFTR (the missing protein in CF).

The paper entitled, "PTC124 targets genetic disorders caused by nonsense mutations" is available in an advanced online publication of Nature on Sunday, April 22nd (http://www.nature.com). This publication is the result of collaborative efforts between PTC Therapeutics, the University of Pennsylvania School of Medicine, and the University of Massachusetts Medical School.

About PTC124

PTC124 is an orally delivered investigational new drug in Phase 2 clinical development for the treatment of genetic disorders due to nonsense mutations. Nonsense mutations are single-point alterations in the genetic code that introduce premature stop codons in RNA, which halt the translation process, producing a shortened, non-functional protein. PTC124 has demonstrated activity in preclinical genetic disease models harboring nonsense mutations, allowing the readthrough of premature stop co
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