Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy
杜氏肌营养不良
肌营养不良蛋白
肌营养不良
基因
生物
基因组编辑
清脆的
遗传学
作者
Leonela Amoasii,John Hildyard,Hui Li,Efrain Sánchez-Ortiz,Alex A. Mireault,Daniel Caballero,Rachel Harron,Thaleia‐Rengina Stathopoulou,Claire Massey,John M. Shelton,Rhonda Bassel‐Duby,Richard J. Piercy,Eric N. Olson
出处
期刊:Science [American Association for the Advancement of Science (AAAS)] 日期:2018-08-30卷期号:362 (6410): 86-91被引量:483
Gene editing and muscular dystrophy Duchenne muscular dystrophy (DMD) is characterized by progressive muscle weakness and a shortened life span. The disease is caused by mutations that reduce or prevent expression of dystrophin, an essential structural protein in skeletal and heart muscle. The gene editing technology CRISPR-Cas9 can correct disease-causing mutations and has yielded promising results in mouse models of DMD. In a small, short-term study, Amoasii et al. tested this strategy in a dog model of DMD that exhibits many features of the human disease. Intramuscular or systemic delivery of the gene editing components resulted in a substantial increase in dystrophin protein levels in skeletal and heart muscle. Restoration of dystrophin expression was accompanied by improved muscle histology. Science , this issue p. 86