Dystrophin pre-mRNA exon 2 (DMD exon 2)

Dystrophin pre-mRNA exon 2 is a specific segment of the DMD gene transcript that serves as a therapeutic target for Duchenne Muscular Dystrophy (DMD), particularly in patients with exon 2 duplications [1, 6]. Duplications of exon 2 are the most common single-exon duplications in DMD, disrupting the reading frame and preventing the production of functional dystrophin protein [6, 9]. Therapeutic strategies, such as the investigational gene therapy scAAV9.U7.ACCA (NCT04240314), utilize modified U7 small nuclear RNAs (snRNAs) to induce the skipping of the duplicated exon during splicing [2, 10]. This process can restore the wild-type reading frame or produce a highly functional dystrophin isoform via an internal ribosome entry site (IRES) located in exon 5 [6, 8]. Successful targeting of exon 2 aims to stabilize muscle cell membranes, reduce inflammation, and slow the progression of muscle wasting in affected individuals [4, 12].

Other names

DMD exon 2Dystrophin exon 2DMD pre-messenger RNA exon 2

Antisense-mediated exon skipping to restore the dystrophin reading frame or utilize an internal ribosome entry site (IRES) for protein translation.