Dystrophin pre-messenger RNA exon 53 splice motifs (DMD exon 53)

Dystrophin pre-messenger RNA exon 53 splice motifs are specific nucleotide sequences within the DMD gene transcript that are targeted to modulate the splicing process in Duchenne muscular dystrophy (DMD) (Source: PubMed, PMID: 32955437). In patients with deletions amenable to exon 53 skipping, such as those missing exon 52, the reading frame of the mRNA is disrupted, leading to a complete lack of functional dystrophin protein (Source: NIH, MedlinePlus). Antisense oligonucleotides (ASOs) like viltolarsen and golodirsen bind to these splice motifs, masking exon 53 from the spliceosomal machinery and causing it to be excluded from the mature mRNA (Source: FDA, Vyondys 53 Prescribing Information). This exon skipping strategy restores the translational reading frame, enabling the production of a truncated but partially functional dystrophin protein similar to that found in Becker muscular dystrophy (Source: StatPearls, Duchenne Muscular Dystrophy). Clinical efficacy is primarily monitored through the quantification of dystrophin protein in muscle tissue and the assessment of motor function (Source: PubMed, PMID: 32453465). Safety considerations for drugs targeting these motifs include potential renal toxicity and infusion-related reactions (Source: FDA, Viltepso Prescribing Information).

Other names

DMD exon 53Dystrophin exon 53Exon 53 of the DMD geneDystrophin pre-mRNA exon 53

Antisense oligonucleotide-mediated exon skipping to restore the open reading frame of the dystrophin transcript (Source: PubMed, PMID: 32955437).