PTC124

PTC124

A drug similar to gentamicin that has been developed to treat genetic diseases in which a mutation causes a premature stop in a gene so that the full normal protein product is not produced. PTC124 binds to a component in the transcription process allowing it to continue past the stop point. The phenomenon was first noted with gentamicin and the new drug has been developed tpo be safer than this antibiotic and more easily absorbed. Trials on mice with CYSTIC FIBROSIS and muscular dystrophy had produce encouraging results. About a third of genetic diseases are caused by a premature STOP MUTATION.
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Other possible therapies include the role of PTC124, an agent which allows 'read through' of a premature stop codon and the production of dystrophin.
A phase II trial of the oral agent PTC124 is ongoing to assess dystrophin expression and function of patients with DMD due to nonsense mutations.
PTC124 can bypass the defect in patients' protein-making machinery and improve the functioning of cell membranes, Eitan Kerem and colleagues of Hadassah Hebrew University Hospital, Jerusalem, reported in an online edition of the Lancet journal.
PTC124, which is given by mouth, is one of a number of experimental drugs in development to correct CFTR defects.