Lysosomal dysfunction in Parkinson disease: ATP13A2 gets into the groove

Autophagy. 2012 Sep;8(9):1389-91. doi: 10.4161/auto.21011. Epub 2012 Aug 13.

Abstract

Mutations in ATP13A2 (PARK9) cause an autosomal recessive form of early-onset parkinsonism with pyramidal degeneration and dementia called Kufor-Rakeb Syndrome (KRS). The ATP13A2 gene encodes a transmembrane lysosomal P5-type ATPase (ATP13A2) whose physiological function in mammalian cells, and hence its potential role in Parkinson disease (PD), remains elusive. In this context, we have recently shown that KRS-linked mutations in ATP13A2 leads to several lysosomal alterations in ATP13A2 KRS patient-derived fibroblasts, including impaired lysosomal acidification, decreased proteolytic processing of lysosomal enzymes, reduced degradation of lysosomal substrates and diminished lysosomal-mediated clearance of autophagosomes (AP). Similar alterations are observed in stable ATP13A2-knockdown dopaminergic cell lines, which are associated with cell death. Restoration of ATP13A2 levels in ATP13A2-mutant/depleted cells is able to restore lysosomal function and attenuate cell death. Relevant to PD, we have determined that ATP13A2 levels are decreased in dopaminergic nigral neurons from sporadic PD patients. Interestingly in these patients, the main signal of ATP13A2 is detected in the Lewy bodies. Our results unravel an instrumental role of ATP13A2 in lysosomal function and in cell viability. Altogether, our results validate ATP13A2 as a likely therapeutic target against PD degeneration.

MeSH terms

  • Autophagy
  • Dopaminergic Neurons / metabolism
  • Dopaminergic Neurons / pathology
  • Humans
  • Lewy Bodies / metabolism
  • Lysosomes / metabolism
  • Lysosomes / pathology*
  • Parkinson Disease / genetics*
  • Parkinson Disease / physiopathology*
  • Proton-Translocating ATPases / deficiency
  • Proton-Translocating ATPases / genetics*

Substances

  • ATP13A2 protein, human
  • Proton-Translocating ATPases