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

Dystrophin exon 51 pre-messenger RNA is a specific segment of the primary transcript of the DMD gene, which encodes the essential muscle protein dystrophin (UniProt P11532). In approximately 13% of patients with Duchenne muscular dystrophy (DMD), mutations disrupt the open reading frame, preventing the production of functional dystrophin and leading to severe, progressive muscle wasting (NIH, 2023). This pre-mRNA sequence serves as a therapeutic target for antisense oligonucleotides (ASOs) designed to induce "exon skipping." By binding to specific exonic splicing enhancer (ESE) sequences within exon 51, these drugs cause the cellular splicing machinery to bypass this exon during processing (FDA, 2016). This intervention restores the reading frame, allowing for the production of an internally truncated but partially functional dystrophin protein, effectively converting a severe DMD phenotype into a milder Becker-like muscular dystrophy phenotype (PubMed: 27638959).

Other names

DMD exon 51Dystrophin pre-mRNA exon 51Dystrophin (DMD) gene exon 51

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