https://orcid.org/0000-0003-1565-654X
Figures & data
Figure 1. Representation of the DMD gene transcript splicing and dystrophin protein translation at different conditions. (A) In a healthy condition, functional dystrophin is translated from the mRNA with the correct reading frame. (B) In Duchenne muscular dystrophy, an out-of-frame exon 48–50 deletion results in splicing of exon 47 to 51 and translation of a prematurely truncated nonfunctional dystrophin. (C) In Becker muscular dystrophy, an in-frame exon 48–51 deletion results in splicing of exon 47 to 52 and translating of an internally truncated semi-functional dystrophin. (D) The exon skipping approach applied for an out-of-frame exon 48–50 deletion uses antisense oligonucleotides (AONs) that target exon 51 and hide it from the splicing machinery. This results in exon 51 exclusion, thus restoring the reading frame and allowing translation of a semi-functional BMD-like dystrophin. Created with BioRender.com.
Table 1. Overview of exon skipping therapeutics under development for DMD therapy.