Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease.

ABSTRACT: Pompe disease is a metabolic myopathy that is caused by glycogen accumulation as a result of deficiency of the lysosomal enzyme acid alpha glucosidase (GAA). Previously, we showed that adult muscle stem cells termed satellite cells are present at normal levels in muscle from patients with Pompe disease, but that these are insufficiently activated to repair the severe muscle pathology. Here we characterized the muscle regenerative response during disease progression in a mouse model of Pompe disease and investigated the intrinsic capacity of Gaa^-/- satellite cells to regenerate muscle damage. Gaa^-/- mice showed progressive muscle pathology from 15 weeks of age as reflected by increased lysosomal size, decreased fiber diameter and reduced muscle wet weight. Only during

SUBMITTER: Schaaf GJ 

PROVIDER: S-EPMC6220463 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature