Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity

J Neurosci. 2012 Mar 21;32(12):4240-6. doi: 10.1523/JNEUROSCI.5575-11.2012.

Abstract

The autophagy-lysosomal pathway plays an important role in the clearance of long-lived proteins and dysfunctional organelles. Lysosomal dysfunction has been implicated in several neurodegenerative disorders including Parkinson's disease and related synucleinopathies that are characterized by accumulations of α-synuclein in Lewy bodies. Recent identification of mutations in genes linked to lysosomal function and neurodegeneration has offered a unique opportunity to directly examine the role of lysosomes in disease pathogenesis. Mutations in lysosomal membrane protein ATP13A2 (PARK9) cause familial Kufor-Rakeb syndrome characterized by early-onset parkinsonism, pyramidal degeneration and dementia. While previous data suggested a role of ATP13A2 in α-synuclein misfolding and toxicity, the mechanistic link has not been established. Here we report that loss of ATP13A2 in human fibroblasts from patients with Kufor-Rakeb syndrome or in mouse primary neurons leads to impaired lysosomal degradation capacity. This lysosomal dysfunction results in accumulation of α-synuclein and toxicity in primary cortical neurons. Importantly, silencing of endogenous α-synuclein attenuated the toxicity in ATP13A2-depleted neurons, suggesting that loss of ATP13A2 mediates neurotoxicity at least in part via the accumulation of α-synuclein. Our findings implicate lysosomal dysfunction in the pathogenesis of Kufor-Rakeb syndrome and suggest that upregulation of lysosomal function and downregulation of α-synuclein represent important therapeutic strategies for this disorder.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Cells, Cultured
  • Cerebral Cortex / cytology
  • Dementia / pathology
  • Embryo, Mammalian
  • Epidermal Growth Factor / metabolism
  • ErbB Receptors / metabolism
  • Fibroblasts / metabolism
  • Gene Expression Regulation / genetics*
  • Green Fluorescent Proteins / genetics
  • Humans
  • L-Lactate Dehydrogenase / metabolism
  • Leucine / metabolism
  • Lysosomal-Associated Membrane Protein 1 / metabolism
  • Lysosomes / metabolism*
  • Lysosomes / pathology
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Microtubule-Associated Proteins / metabolism
  • Mutation / genetics
  • Neurofilament Proteins / metabolism
  • Neurons / drug effects
  • Neurons / metabolism*
  • Parkinsonian Disorders / pathology
  • Proton-Translocating ATPases / deficiency*
  • Proton-Translocating ATPases / genetics
  • RNA, Small Interfering / genetics
  • RNA, Small Interfering / metabolism
  • Statistics, Nonparametric
  • Time Factors
  • Transfection
  • Tritium / metabolism
  • alpha-Synuclein / metabolism*

Substances

  • ATP13A2 protein, human
  • Lysosomal-Associated Membrane Protein 1
  • MAP1LC3A protein, human
  • Microtubule-Associated Proteins
  • Neurofilament Proteins
  • RNA, Small Interfering
  • alpha-Synuclein
  • enhanced green fluorescent protein
  • Tritium
  • Green Fluorescent Proteins
  • Epidermal Growth Factor
  • L-Lactate Dehydrogenase
  • EGFR protein, human
  • ErbB Receptors
  • Proton-Translocating ATPases
  • Leucine

Supplementary concepts

  • Kufor-Rakeb syndrome