Background
Gene editing therapies in development for correcting out-of-frame DMD mutations in Duchenne muscular dystrophy
Conclusions
Overall, we provide helpful resources to deepen into unknown factors responsible for DMD-pathophysiology.
Methods
We introduced, as a proof-of-concept, using CRISPR-Cas9 edition, a del45-55 mimicking the intronic breakpoints harboured by a subset of patients of this form of dystrophinopathy (designing specific gRNAs), into a Duchenne patient's cell line. The edited cell line was characterized evaluating the dystrophin expression and the myogenic status.
Results
Dystrophin expression was restored, and the myogenic defects were ameliorated in the edited myoblasts harbouring a specific del45-55. Besides confirming the potential of CRISPR-Cas9 to create tailored mutations (despite the low cleavage efficiency of our gRNAs) as a useful approach to generate in vitro models, we also generated an immortalized myoblast line derived from a patient with a specific del45-55. Conclusions: Overall, we provide helpful resources to deepen into unknown factors responsible for DMD-pathophysiology.