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Exon skipping strategies to address DMD-causing mutations: Personalized genetic therapies

Meloni, P., Johnsen, R., Greer, K., Forrest, S., Stone, L., Fletcher, S. and Wilton, S. (2009) Exon skipping strategies to address DMD-causing mutations: Personalized genetic therapies. In: 33rd HGSA Annual Scientific Meeting, 3 - 6 May 2009, Fremantle, Western Australia.


Duchenne muscular dystrophy (DMD) is a severe and progressive muscle wasting disease, caused by protein truncating mutations, and ultimately the loss of functional dystrophin in muscle. Becker MD (BMD), an allelic condition is generally caused by in-frame deletions within the dystrophin gene, resulting in the production of an internally truncated but variably functional protein. Antisense-oligonucleotide (AO) induced-exonskipping has the potential to by-pass protein truncating mutations and restore dystrophin expression. To date, the focus has been on addressing genomic deletions occurring in the major deletion hotspot. Our laboratory has designed and optimized a series of AOs to excise individual dystrophin exons 2 to 78 during processing of the dystrophin pre-mRNA, which have been evaluated in normal cells. We describe exon skipping strategies to rescue dystrophin expression in patient cell lines with different mutations (exonic duplications, micro-insertion/deletions, nonsense and splice motif defects), which can only be assessed in the appropriate patient cell line. In some cases, multiple strategies may be applicable to address one mutation, and it will be crucial to identify which approach will result in the most functional dystrophin isoform.

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