Dystrophin pre-messenger RNA exon 51 splice region (DMD exon 51)

The Dystrophin pre-mRNA exon 51 splice region is a specific sequence within the DMD gene transcript that serves as a therapeutic target for Duchenne muscular dystrophy (DMD) (FDA, 2016). DMD is a severe muscle-wasting disease caused by mutations, such as deletions, that disrupt the open reading frame of the dystrophin gene, leading to a lack of functional dystrophin protein (Mendell et al., 2013). By targeting the splice donor, acceptor, or exonic splicing enhancers (ESEs) of exon 51 with antisense oligonucleotides, the splicing machinery can be induced to skip this exon (Aartsma-Rus & Corey, 2020). This "exon skipping" strategy restores the reading frame, allowing for the production of a truncated but partially functional dystrophin protein, similar to that found in the milder Becker muscular dystrophy (Lim et al., 2017). Eteplirsen (Exondys 51) is the primary FDA-approved drug that interacts with this region to treat patients with mutations amenable to exon 51 skipping (FDA, 2016). This approach aims to slow disease progression and improve motor function in affected individuals by maintaining muscle fiber stability (Mendell et al., 2016).

Other names

DMD exon 51Dystrophin exon 51Exon 51 of the DMD geneDystrophin pre-mRNA exon 51

Exon skipping via antisense oligonucleotide binding to splice motifs