Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II).

ABSTRACT: Pompe disease, which is due to acid alpha-glucosidase deficiency, is characterized by skeletal muscle dysfunction attributed to the accumulation of glycogen-filled lysosomes and autophagic buildup. Despite the extensive tissue damages, a failure of satellite cell (SC) activation and lack of muscle regeneration have been reported in patients. However, the origin of this defective program is unknown. Additionally, whether these deficits occur gradually over the disease course is unclear. Using a longitudinal pathophysiological study of two muscles in a Pompe mouse model, here, we report that the enzymatic defect results in a premature saturating glycogen overload and a high number of enlarged lysosomes. The muscles gradually display profound remodeling as the number of autophagic vesicles, c

SUBMITTER: Lagalice L 

PROVIDER: S-EPMC6211565 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature