Dystrophin exon 44 pre-messenger RNA (DMD exon 44 pre-mRNA)

Dystrophin exon 44 pre-messenger RNA (pre-mRNA) is a specific segment of the primary transcript of the DMD gene, which encodes the dystrophin protein essential for maintaining muscle cell structural integrity (Source: NIH, Genetics Home Reference). In a subset of patients with Duchenne muscular dystrophy (DMD), mutations—most commonly deletions of adjacent exons—disrupt the mRNA reading frame, resulting in a premature stop codon and a complete lack of functional dystrophin (Source: PubMed, PMID: 29055101). This target is utilized in exon skipping therapy, where antisense oligonucleotides (ASOs) are designed to bind to specific sequences within or surrounding exon 44. This binding masks the exon from the splicing machinery, causing it to be excluded from the mature mRNA. By skipping exon 44, the reading frame can be restored in specific mutation patterns (e.g., deletions of exon 43 or exons 45-54), leading to the production of an internally truncated but partially functional dystrophin protein (Source: Nature Reviews Drug Discovery). This approach aims to convert a severe DMD phenotype into a milder Becker-like muscular dystrophy phenotype, potentially slowing the loss of ambulation and respiratory function (Source: Muscular Dystrophy Association).

Other names

DMD exon 44Dystrophin pre-mRNA exon 44Dystrophin exon 44 transcript

Exon skipping via antisense oligonucleotide binding to pre-mRNA to restore the reading frame