A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells

Sci Rep. 2017 Oct 18;7(1):13473. doi: 10.1038/s41598-017-14063-y.

Abstract

Pompe disease is caused by an inborn defect of lysosomal acid α-glucosidase (GAA) and is characterized by lysosomal glycogen accumulation primarily in the skeletal muscle and heart. Patients with the severe type of the disease, infantile-onset Pompe disease (IOPD), show generalized muscle weakness and heart failure in early infancy. They cannot survive over two years. Enzyme replacement therapy with recombinant human GAA (rhGAA) improves the survival rate, but its effect on skeletal muscle is insufficient compared to other organs. Moreover, the patho-mechanism of skeletal muscle damage in IOPD is still unclear. Here we generated induced pluripotent stem cells (iPSCs) from patients with IOPD and differentiated them into myocytes. Differentiated myocytes showed lysosomal glycogen accumulation, which was dose-dependently rescued by rhGAA. We further demonstrated that mammalian/mechanistic target of rapamycin complex 1 (mTORC1) activity was impaired in IOPD iPSC-derived myocytes. Comprehensive metabolomic and transcriptomic analyses suggested the disturbance of mTORC1-related signaling, including deteriorated energy status and suppressed mitochondrial oxidative function. In summary, we successfully established an in vitro skeletal muscle model of IOPD using patient-specific iPSCs. Disturbed mTORC1 signaling may contribute to the pathogenesis of skeletal muscle damage in IOPD, and may be a potential therapeutic target for Pompe disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation
  • Cell Line
  • Energy Metabolism
  • Gene Expression
  • Glucose / metabolism
  • Glycogen / metabolism
  • Glycogen Storage Disease Type II / genetics*
  • Glycogen Storage Disease Type II / metabolism*
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism*
  • Lysosomes / enzymology
  • Mechanistic Target of Rapamycin Complex 1 / metabolism
  • Muscle Cells / metabolism
  • Muscle Development / genetics
  • Muscle, Skeletal / metabolism*
  • Muscle, Skeletal / pathology
  • MyoD Protein / genetics
  • MyoD Protein / metabolism
  • Phenotype
  • Transduction, Genetic
  • alpha-Glucosidases / genetics

Substances

  • MyoD Protein
  • MyoD1 myogenic differentiation protein
  • Glycogen
  • Mechanistic Target of Rapamycin Complex 1
  • GAA protein, human
  • alpha-Glucosidases
  • Glucose