Dystrophin pre-mRNA exon 52 splice regulatory region (DMD exon 52 SRR)

The Dystrophin (DMD) pre-mRNA exon 52 splice regulatory region is a specific sequence within the primary transcript of the DMD gene that regulates the inclusion of exon 52 during mRNA splicing. In patients with Duchenne muscular dystrophy (DMD), mutations such as deletions of exon 51 or 53 can disrupt the reading frame, leading to a deficiency of functional dystrophin protein (Nippon Shinyaku, 2023). This splice regulatory region serves as a therapeutic target for antisense oligonucleotides (ASOs) designed to induce exon skipping. By binding to exonic splicing enhancers (ESEs) or splice sites within this region, these drugs prevent the spliceosome from incorporating exon 52 into the mature mRNA (PubMed, 2019). This intervention restores the open reading frame, allowing for the production of a truncated but partially functional dystrophin protein, which can slow the progression of muscle degeneration (MDA, 2024). Investigational therapies like NS-089/NCNP-02 are specifically engineered to target this region in patients with mutations amenable to exon 52 skipping. Clinical monitoring of this target involves assessing dystrophin expression in muscle biopsies and evaluating improvements in motor function through standardized physical tests.

Other names

DMD exon 52 exonic splicing enhancerDMD exon 52 ESEDystrophin exon 52 splice siteDMD exon 52 target sequence

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