Impaired autophagy in Lafora disease

Autophagy. 2010 Oct;6(7):991-3. doi: 10.4161/auto6.7.13308. Epub 2010 Oct 11.

Abstract

Lafora disease (LD) is a progressive, lethal, autosomal recessive, neurodegenerative disorder that manifests with myoclonus epilepsy. LD is characterized by the presence of intracellular inclusion bodies called Lafora bodies (LB), in brain, spinal cord and other tissues. More than 50 percent of LD is caused by mutations in EPM2A that encodes laforin. Here we review our recent findings that revealed that laforin regulates autophagy. We consider how autophagy compromise may predispose to LB formation and neurodegeneration in LD, and discuss future investigations suggested by our data.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Autophagy / physiology*
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism
  • Humans
  • Lafora Disease / physiopathology*
  • Mice
  • Proteasome Endopeptidase Complex / metabolism
  • Protein Tyrosine Phosphatases, Non-Receptor / genetics
  • Protein Tyrosine Phosphatases, Non-Receptor / metabolism
  • Ubiquitin-Protein Ligases

Substances

  • Carrier Proteins
  • NHLRC1 protein, human
  • Ubiquitin-Protein Ligases
  • Protein Tyrosine Phosphatases, Non-Receptor
  • EPM2A protein, human
  • Proteasome Endopeptidase Complex