Human dystrophin pre-mRNA exon 45 (DMD exon 45)

Human dystrophin pre-mRNA exon 45 is a specific coding segment of the DMD gene transcript, which encodes the dystrophin protein essential for maintaining muscle fiber integrity [1, 14]. In patients with Duchenne Muscular Dystrophy (DMD), mutations in or around this region disrupt the reading frame, leading to a complete lack of functional dystrophin [3, 13]. This exon serves as a therapeutic target for exon skipping strategies, where antisense oligonucleotides like casimersen bind to the pre-mRNA to induce the exclusion of exon 45 during splicing [2, 19]. This process restores the reading frame, allowing for the production of an internally truncated but partially functional dystrophin protein, similar to that found in the milder Becker Muscular Dystrophy [3, 14]. Targeting this exon is applicable to approximately 8-9% of the DMD population [2, 10]. Clinical monitoring for drugs targeting this exon often includes assessments of dystrophin expression in muscle biopsies and renal function tests due to potential toxicity [5, 15].

Other names

Dystrophin exon 45DMD gene exon 45Exon 45 of the human DMD pre-mRNA

Exon skipping via antisense oligonucleotide binding to the pre-mRNA transcript to restore the reading frame and produce a truncated but functional dystrophin protein.