Exon 51 region of dystrophin pre-mRNA (DMD exon 51)

The exon 51 region of the dystrophin pre-mRNA is a specific segment of the precursor messenger RNA transcribed from the DMD gene, which encodes the dystrophin protein essential for maintaining muscle cell structural integrity [1, 3]. In many patients with Duchenne muscular dystrophy (DMD), mutations such as deletions of adjacent exons (e.g., exons 49-50) disrupt the mRNA reading frame, resulting in a complete lack of functional dystrophin [4, 13]. This region serves as a therapeutic target for antisense oligonucleotides (ASOs) designed to induce exon skipping [5, 12]. By binding to specific sequences within exon 51, these drugs mask the exon from the splicing machinery, causing it to be excluded from the mature mRNA [1, 2]. This process restores the translational reading frame, allowing for the production of an internally truncated but partially functional dystrophin protein, which can slow disease progression [3, 10]. Eteplirsen was the first FDA-approved therapy to target this region, specifically benefiting the approximately 13-14% of DMD patients with mutations amenable to exon 51 skipping [4, 17].

Other names

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

Exon skipping via antisense oligonucleotide binding to mask the exon from the splicing machinery, restoring the translational reading frame.