Dystrophin pre-messenger RNA exon 50 (DMD exon 50)

Dystrophin pre-messenger RNA (pre-mRNA) exon 50 is a specific segment of the transcript produced from the DMD gene, which encodes the essential muscle protein dystrophin [9, 12]. In Duchenne muscular dystrophy (DMD), mutations such as deletions often disrupt the mRNA reading frame, leading to a complete lack of functional dystrophin and progressive muscle wasting [2, 9]. Exon 50 is a therapeutic target for 'exon skipping' strategies, where antisense oligonucleotides (ASOs) or gene-editing tools are used to mask or remove this exon during splicing [1, 4, 15]. By skipping exon 50, the reading frame can be restored in approximately 4% of DMD patients, specifically those with deletions of exons 20-49, 22-49, or 51 [2, 6, 9]. This process results in the production of an internally truncated but partially functional dystrophin protein, similar to that found in the milder Becker muscular dystrophy [6, 15]. Investigational therapies targeting this exon include the ASO NS-050/NCNP-03 and the base-editing candidate GEN6050X [2, 4, 10]. Successful targeting is monitored through biomarkers such as dystrophin protein expression in muscle biopsies and reduced serum creatine kinase levels [7, 11].

Other names

Human dystrophin pre-mRNA exon 50Dystrophin exon 50DMD exon 50Dystrophin pre-mRNA exon 50

Antisense-mediated exon skipping