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

Dystrophin pre-mRNA exon 51 is a specific segment of the primary transcript of the DMD gene, which encodes the dystrophin protein essential for maintaining muscle cell membrane integrity [10]. In many patients with Duchenne muscular dystrophy (DMD), deletions of adjacent exons disrupt the reading frame, leading to a complete lack of functional dystrophin and progressive muscle wasting [2, 7]. Exon 51 is a major therapeutic target for antisense oligonucleotides (ASOs) designed to induce 'exon skipping' [1, 15]. By binding to specific sequences within or near exon 51, these drugs cause the cellular splicing machinery to bypass this exon during mRNA processing [12, 16]. This restores the open reading frame, allowing for the production of a truncated but partially functional dystrophin protein, similar to that found in the milder Becker muscular dystrophy [15, 17]. This approach specifically addresses approximately 13-14% of the DMD population whose mutations are amenable to exon 51 skipping [2, 11]. Approved therapies like eteplirsen target this region to slow disease progression, though challenges remain regarding the low levels of dystrophin restoration achieved [2, 4].

Other names

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

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