[Mutation-specific treatments for Duchenne muscular dystrophy]

Masafumi Matsuo, Yasuhiro Takeshima
Brain and Nerve, Shinkei Kenkyū No Shinpo 2009, 61 (8): 915-22
Duchenne muscular dystrophy (DMD) is the most common form of inherited muscle disease and is characterized by progressive muscle wasting ultimately resulting in death of the patients in their twenties. DMD is characterized by a deficiency of the muscle dystrophin as a result of mutations in the dystrophin gene. Currently, no effective treatment for DMD is available. Two promising treatments strategies have been proposed specifically for correcting the mutations in the dystrophin gene. Induction of exon skipping using antisense oligonucleotides is expected to correct the out-of-frame mutation into in-frame mutation of the translational reading frame of dystrophin mRNA. This strategy enables the production of truncated dystrophin production in DMD patients with out-of-frame exon-deletion mutations in the dystrophin gene. Our first treatment with antisense oligonucleotides against exon 19 was successful and resulted in the production of dystrophin in the skeletal muscle of a DMD patient with exon 20 deletion. It is anticipated that exon skipping will be applied extensively for the correction of deletion mutations. Induction of the read-through effect using gentamycin or PTC124 is expected to produce dystrophin in DMD patients with nonsense mutation. The treatment with PTC124 is currently under clinical trial. In this review, these treatments strategies have been summarized.

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