Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II

Biochim Biophys Acta. 2003 Mar 20;1637(2):164-70. doi: 10.1016/s0925-4439(02)00229-6.

Abstract

The importance of proper lysosomal activity in cell and tissue homeostasis is underlined by "experiments of nature", i.e. genetic defects in one of the at least 40 lysosomal enzymes/proteins present in the human cell. The complete lack of 1-4 alpha-glucosidase (glycogen storage disease type II (GSD II) or Pompe disease) is life-threatening. Patients suffering from GSD II commonly die before the age of 2 years because of cardiorespiratory insufficiency. Striated muscle cells appear to be particularly vulnerable in GSD II. The high cytoplasmic glycogen content in muscle cells most likely gives rise to a high rate of glycogen engulfment by the lysosomes. The polysaccharides become subsequently trapped in these organelles when 1-4 alpha-glucosidase activity is absent. During the course of the disease, muscle wasting occurs. It is hypothesised that the gradual loss of muscle mass is caused by a combination of disuse atrophy and lipofuscine-mediated apoptosis of myocytes. Moreover, we hypothesise that in the remaining skeletal muscle cells, longitudinal transmission of force is hampered by swollen lysosomes, clustering of non-contractile material and focal regions with degraded contractile proteins, which results in muscle weakness.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Glucan 1,4-alpha-Glucosidase / deficiency
  • Glucan 1,4-alpha-Glucosidase / genetics
  • Glycogen Storage Disease Type II / genetics
  • Glycogen Storage Disease Type II / metabolism*
  • Glycogen Storage Disease Type II / pathology
  • Humans
  • Lipofuscin / biosynthesis
  • Lysosomes / metabolism*
  • Lysosomes / pathology
  • Muscle, Skeletal / metabolism*
  • Muscle, Skeletal / pathology
  • alpha-Glucosidases

Substances

  • Lipofuscin
  • alpha-Glucosidases
  • Glucan 1,4-alpha-Glucosidase