Dystrophin pre-mRNA (DMD pre-mRNA) (DMD pre-mRNA)

The target refers to the specific regulatory sequences within the Dystrophin (DMD) pre-mRNA that govern the spliceosomal recognition and inclusion of exon 6 and exon 8 (Sarepta Therapeutics, 2024). Duchenne Muscular Dystrophy (DMD) is a progressive neuromuscular disorder caused by mutations in the DMD gene that disrupt the reading frame, preventing the production of functional dystrophin protein (NIH, 2023). Therapeutic strategies targeting these specific exons involve the use of antisense oligonucleotides (ASOs) designed to bind to exonic splicing enhancers or splice sites (PubMed, 2022). This binding sterically hinders the spliceosome, leading to the exclusion (skipping) of the targeted exon from the mature mRNA (Nature Reviews Drug Discovery, 2019). For patients with specific deletions, skipping exon 6 or exon 8 can restore the reading frame, enabling the synthesis of a truncated but functional dystrophin protein (Journal of Neuromuscular Diseases, 2021). This approach aims to slow disease progression and improve muscle function, with candidates like SRP-4006 and SRP-4008 currently under investigation for these specific patient populations (Sarepta Therapeutics, 2024).

Other names

DMD exon 6DMD exon 8Dystrophin transcriptDMD pre-messenger RNASpliceosomal recognition of DMD exon 6 and exon 8

Antisense oligonucleotide-mediated exon skipping