Prevention of muscular dystrophy in mice by CRISPR/Cas9–mediated editing of germline DNA

TLDR

Duchenne muscular dystrophy causes progressive muscle weakness, and dystrophin mutations have been identified as the underlying cause, prompting genome‑editing research. The authors used CRISPR/Cas9 genome editing to correct the dystrophin mutation in a mouse model predisposed to Duchenne muscular dystrophy. The germline editing prevented muscle degeneration even when only a minority of cells were corrected, demonstrating proof of concept for cell‑type‑specific genome editing, though it is not yet feasible for humans. Long et al., Science, this issue p.

Abstract

Genome editing corrects a muscle disease Patients with Duchenne muscular dystrophy find their muscles growing progressively weaker. Studies identified dystrophin as the culprit gene, which galvanized research into gene-targeted therapies. Long et al. apply genome editing to “correct” the disease-causing mutation in mice genetically destined to develop the disease. This germline editing strategy kept muscles from degenerating, even in mice harboring only a small percentage of corrected cells. Although not feasible for humans, this proof of concept sets the stage for applying genome editing to specific cell types involved in the disease. Science , this issue p. 1184