Dystrophin (encoded by the DMD gene) (DMD)

Exon 44 of the DMD gene is a critical therapeutic target in Duchenne muscular dystrophy, as skipping this exon using antisense oligonucleotide or gene editing strategies can restore the reading frame for certain out-of-frame mutations, enabling the production of a truncated but partially functional dystrophin protein. This approach benefits DMD patients with deletions amenable to exon 44 skipping (e.g., exon 45, exons 45–54), representing roughly 6–12% of DMD cases. Therapies targeting “dystrophin exon 44” do not interact directly with the dystrophin protein, but modify the DMD mRNA splicing pattern to mitigate disease severity.

Other names

DMD exon 44Exon 44 of dystrophin geneExon 44 skipping (therapeutic context)Dystrophin exon skipping target

Antisense-mediated exon skipping, restoring the reading frame in dystrophin mRNA by promoting the skipping of exon 44 during splicing, producing a truncated but partially functional dystrophin protein. Gene editing (CRISPR-Cas9): removal or editing of exon 44 to restore an in-frame transcript.