P.288Multi-exon skipping by CRISPR/Cas9-mediated genome editing in GRMD dog

Golden retriever muscular dystrophy dog (GRMD) parallels Duchenne muscular dystrophy (DMD) and is an appropriate pre-clinical large animal model for this disease. GRMD presents a spontaneous splice site single mutation in the dystrophin gene that leads to the skipping of exon 7, disruption of the reading frame and absence of protein. A promising approach to cure DMD is gene therapy via exon-skipping. We previously demonstrated that skipping of exons 6 to 9 using antisense sequences vectorized into adenoassociated vectors (AAV) reestablishes the translational reading frame obtaining a truncated Dystrophin with significantly improved muscle function in GRMD dogs.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: I. Punz ón, I. Barthélemy, F. Auradé, N. Blanchard-Gutton, C. Drougard, F. Piétri-Rouxel, F. Relaix, S. Blot Source Type: research