Research ArticleMuscular Dystrophy

Single-cut genome editing restores dystrophin expression in a new mouse model of muscular dystrophy

See allHide authors and affiliations

Science Translational Medicine  29 Nov 2017:
Vol. 9, Issue 418, eaan8081
DOI: 10.1126/scitranslmed.aan8081

You are currently viewing the editor's summary.

View Full Text

Log in to view the full text

Log in through your institution

Log in through your institution

Making the cut

Mutations in the dystrophin gene cause Duchenne muscular dystrophy (DMD), a fatal childhood muscle disease. To optimize the correction of DMD mutations by CRISPR/Cas9 gene editing, Amoasii et al. first generated mice that had exon 50 deleted, a common human mutational “hotspot” region of the dystrophin gene. The authors then reported a method in which a single cut in genomic DNA encoding dystrophin with CRISPR/Cas9 in these engineered mice resulted in up to 90% restoration of dystrophin expression in mouse skeletal and heart muscles. This method of permanently bypassing DMD mutations using a single genomic cut suggests that this strategy may have potential for efficiently correcting DMD mutations.