EXON DELETION CORRECTION OF DUCHENNE MUSCULAR DYSTROPHY MUTATIONS IN THE DYSTROPHIN ACTIN BINDING DOMAIN 1 USING CRISPR GENOME EDITING

摘要

CRISPR/Cas9-mediated genome editing holds clinical potential for treating genetic diseases, such as Duchenne muscular dystrophy (DMD), which is caused by mutations in the dystrophin gene and absence or deficiency of dystrophin protein in striated muscle. Provided herein are compositions and methods for treating DMD caused by mutations in the dystrophin Actin Binding Domain 1 (ABD-1). The compositions and method described herein can be used to remove mutant sequences in dystrophin ABD-1 to generate a corrected DMD protein that, while lacking one or more exons (e.g., exons 3-9), retains important functional properties.