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

The Dystrophin pre-mRNA exon 51 region is a specific segment of the primary transcript of the DMD gene, which encodes the dystrophin protein (NIH, 2024; PatSnap, 2024). Dystrophin is a vital structural component that links the internal cytoskeleton of muscle fibers to the surrounding extracellular matrix, providing stability during muscle contraction (NIH, 2010; PatSnap, 2025). In many patients with Duchenne Muscular Dystrophy (DMD), mutations such as deletions disrupt the reading frame of the mRNA, preventing the production of functional dystrophin and leading to progressive muscle wasting (Drugs.com, 2025; BioMarin, 2024). This exon 51 region is a major therapeutic target for antisense oligonucleotides (ASOs) designed to induce "exon skipping" (Frontiers, 2024; NIH, 2016). By binding to this region, ASOs mask the exon from the splicing machinery, causing it to be excluded from the mature mRNA (RxList, 2024; NIH, 2016). This process restores the reading frame, allowing the cell to produce a truncated but partially functional dystrophin protein, which can mitigate the severe DMD phenotype (ResearchGate, 2024; NIH, 2010). Approved therapies like eteplirsen specifically target this region to improve muscle function and slow disease progression in amenable patients (FDA, 2016; Sarepta, 2024).

Other names

DMD exon 51Dystrophin exon 51Exon 51 of the DMD geneDystrophin pre-messenger RNA exon 51

Exon skipping via antisense oligonucleotide binding to the pre-mRNA exon 51 region to mask it from the splicing machinery, thereby restoring the translational reading frame and allowing production of a truncated but functional dystrophin protein (NIH, 2016; RxList, 2024).