Single Exon Skipping Can Address a Multi-Exon Duplication in the Dystrophin Gene.

ABSTRACT: Duchenne muscular dystrophy (DMD) is a severe muscle wasting disease typically caused by protein-truncating mutations that preclude synthesis of a functional dystrophin. Exonic deletions are the most common type of DMD lesion, however, whole exon duplications account for between 10-15% of all reported mutations. Here, we describe in vitro evaluation of antisense oligonucleotide-induced splice switching strategies to re-frame the transcript disrupted by a multi-exon duplication within the DMD gene. Phosphorodiamidate morpholino oligomers and phosphorodiamidate morpholino oligomers coupled to a cell penetrating peptide were evaluated in a Duchenne muscular dystrophy patient cell strain carrying an exon 14-17 duplication. Two strategies were employed; the conventional approach was to remove b

SUBMITTER: Greer K 

PROVIDER: S-EPMC7350004 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature