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

Dystrophin pre-messenger RNA (pre-mRNA) exon 51 is a critical therapeutic target within the DMD gene transcript, primarily addressed in the treatment of Duchenne muscular dystrophy (DMD). DMD is a severe, progressive muscle-wasting disease caused by mutations—most commonly large deletions—that disrupt the mRNA reading frame, preventing the synthesis of functional dystrophin protein required for muscle membrane stability (Source: NIH/GARD). Targeting exon 51 with antisense oligonucleotides (ASOs) like Eteplirsen allows the spliceosome to bypass this exon during processing, which restores the reading frame for approximately 13% of DMD patients (Source: FDA, Exondys 51 Label). This process results in the production of an internally truncated but partially functional dystrophin protein, similar to that found in the milder Becker muscular dystrophy (Source: PubMed, PMID: 27733355). While this approach represents a significant advancement in precision medicine, challenges remain regarding the low levels of dystrophin produced and the requirement for lifelong weekly intravenous infusions (Source: StatPearls). Recent clinical trials for next-generation ASOs have also highlighted safety concerns such as hypomagnesemia and renal monitoring requirements (Source: Sarepta Therapeutics, 2024). Monitoring typically involves measuring dystrophin expression in muscle biopsies and assessing motor function through standardized tests like the 6-minute walk test (Source: PMC5036084).

Other names

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

Antisense oligonucleotide-mediated exon skipping to restore the mRNA reading frame