Figure 4.

Mechanism of Action of Eteplirsen for the Treatment of Duchenne Muscular Dystrophy (DMD)

(A) Effect of a deletion of exons 49–50 region in the DMD gene that causes a frameshift and leads to the introduction of a premature termination codon in exon 51. The mutant mRNA is degraded in the cytoplasm by nonsense-mediated mRNA decay (NMD), and no dystrophin protein is produced, causing DMD. (B) Eteplirsen binding to exon 51, which prevents its inclusion and restores the frame. The resulting mRNA lacking exons 49–51 is translated to generate an internally truncated dystrophin protein that retains partial function.