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

Sci Adv. 2022 May 27;8(21):eabn0379. doi: 10.1126/sciadv.abn0379. Epub 2022 May 25.

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. Largemyd/Largemyd (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 pathophysiology, improves motor and respiratory function, and normalizes systemic metabolism, which collectively and markedly extends survival. Our results in a mouse model of muscular dystrophy demonstrate that skeletal muscle function can be restored, illustrating its remarkable plasticity, and that survival can be greatly improved even after the onset of severe muscle pathophysiology.

MeSH terms

  • Animals
  • Dystroglycans / metabolism
  • Gene Transfer Techniques
  • Glycosylation
  • Mice
  • Muscle, Skeletal / metabolism
  • Muscular Dystrophies* / genetics
  • Muscular Dystrophies* / metabolism
  • Muscular Dystrophies* / therapy
  • Musculoskeletal Physiological Phenomena
  • N-Acetylglucosaminyltransferases* / genetics

Substances

  • Dystroglycans
  • Large1 protein, mouse
  • N-Acetylglucosaminyltransferases