Lysosomal storage diseases as disorders of autophagy

Autophagy. 2008 Jan;4(1):113-4. doi: 10.4161/auto.5227. Epub 2007 Oct 30.

Abstract

The cellular turnover of proteins and organelles requires cooperation between the autophagic and the lysosomal degradation pathways. A crucial step in this process is the fusion of the autophagosome with the lysosome. In our study we demonstrate that in Lysosomal Storage Disorders (LSDs) accumulation of undegraded substrates in lysosomes, due to deficiency of specific lysosomal enzymes, impairs the fusion between autophagosomes and lysosomes. This, in turn, leads to a progressive accumulation of poly-ubiquitinated protein aggregates and of dysfunctional mitochondria. These findings suggest that neurodegeneration in LSDs may share some mechanisms with late-onset neurodegenerative disorders in which the accumulation of protein aggregates is a prominent feature.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Autophagy / physiology*
  • Cell Death
  • Disease Models, Animal
  • Humans
  • Lysosomal Storage Diseases* / metabolism
  • Lysosomal Storage Diseases* / pathology
  • Lysosomal Storage Diseases* / physiopathology
  • Lysosomes / metabolism
  • Mice
  • Neurodegenerative Diseases / metabolism
  • Neurodegenerative Diseases / pathology
  • Neurodegenerative Diseases / physiopathology
  • Neurons / metabolism
  • Neurons / pathology
  • Phagosomes / metabolism
  • Protein Folding