Exon Skipping
Exon skipping is currently one of the most promising therapeutic approaches for Duchenne muscular dystrophy (DMD). Using antisense oligonucleotides targeting specific exons the DMD reading frame is restored and partially functional dystrophins are produced. Following proof of concept in cultured muscle cells from patients with various deletions and point mutations, we now focus on single and multiple exon duplications. These mutations are in principle ideal targets for this approach since the specific skipping of duplicated exons would generate original, full-length transcripts. As you will see in this powerpoint presentation the first slide will show the exons missing from 2 brothers (45 – 52)then the second slide will show the exon (53)that will have to be deleted in order to skip over to the necessary exons to conversate scientifically and make this work.
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