Large1 gene transfer in older myd mice with severe muscular dystrophy restores muscle function and greatly improves survival.

ABSTRACT: Muscular dystrophy is a progressive and ultimately lethal neuromuscular disease. Although gene editing and gene transfer hold great promise as therapies when administered before the onset of severe clinical symptoms, it is unclear whether these strategies can restore muscle function and improve survival in the late stages of muscular dystrophy. Large^myd/Large^myd (myd) mice lack expression of like-acetylglucosaminyltransferase-1 (Large1) and exhibit severe muscle pathophysiology, impaired mobility, and a markedly reduced life span. Here, we show that systemic delivery of AAV2/9 CMV Large1 (AAVLarge1) in >34-week-old myd mice with advanced disease restores matriglycan expression on dystroglycan, attenuates skeletal muscle

SUBMITTER: Yonekawa T 

PROVIDER: S-EPMC9132445 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature