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Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy

Amoasii, L; Hildyard, J C W; Li, H; Sanchez-Ortiz, E; Mireault, A; Caballero, D; Harron, R; Stathopoulou, T-R; Massey, C A; Shelton, J M; Bassel-Duby, R; Piercy, R J; Olson, E N


L Amoasii

J C W Hildyard

H Li

E Sanchez-Ortiz

A Mireault

D Caballero

R Harron

T-R Stathopoulou

C A Massey

J M Shelton

R Bassel-Duby

R J Piercy

E N Olson


Mutations in the gene encoding dystrophin, a protein that maintains muscle integrity and function, cause Duchenne muscular dystrophy (DMD). The deltaE50-MD dog model of DMD harbors a mutation corresponding to a mutational “hotspot” in the human DMD gene. We used adeno-associated viruses to deliver CRISPR gene editing components to four dogs and examined dystrophin protein expression 6 weeks after intramuscular delivery (n = 2) or 8 weeks after systemic delivery (n = 2). After systemic delivery in skeletal muscle, dystrophin was restored to levels ranging from 3 to 90% of normal, depending on muscle type. In cardiac muscle, dystrophin levels in the dog receiving the highest dose reached 92% of normal. The treated dogs also showed improved muscle histology. These large-animal data support the concept that, with further development, gene editing approaches may prove clinically useful for the treatment of DMD.


Amoasii, L., Hildyard, J. C. W., Li, H., Sanchez-Ortiz, E., Mireault, A., Caballero, D., …Olson, E. N. (2018). Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy. Science, 362(6410), 86-91.

Journal Article Type Article
Acceptance Date Aug 17, 2018
Publication Date Oct 5, 2018
Deposit Date Nov 3, 2018
Publicly Available Date Nov 7, 2018
Print ISSN 0036-8075
Publisher American Association for the Advancement of Science
Peer Reviewed Peer Reviewed
Volume 362
Issue 6410
Pages 86-91
Public URL


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