PHYSCI 121 Chapter Notes - Chapter N/A: Exon Skipping, Nonsense Mutation, Myostatin
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There has been significant expansion of clinical trials for duchenne muscular dystrophy (dmd) over the past 10 years. This is the result of a combination of improved scientific understanding of the underlying pathophysiology of these diseases and careful preclinical development of the therapeutic strategies for these diseases. (but there is still no cure. Just accommodations and treatments to make the patient live longer. ) Mutations that preserve the reading frame are predicted to result in a milder phenotype called becker. Muscular dystrophy",whereasmutations that disrupt the reading frame are predicted to result in a more severe phenotype that we refer to as dmd" (diseases are usually caused when something is altered) Synthetic antisense oligonucleotides have been used to effect skipping of an additional exon. Consequently, skipping exon 51 is the mechanism of action for the first two agents developed for exon skipping: (that"s what i"ve been wondering.
