Expression of mutant alpha-synuclein causes increased susceptibility to dopamine toxicity

Hum Mol Genet. 2000 Nov 1;9(18):2683-9. doi: 10.1093/hmg/9.18.2683.

Abstract

Mutations of the alpha-synuclein gene have been identified in autosomal dominant Parkinson's disease (PD). Transgenic mice overexpressing wild-type human alpha-synuclein develop motor impairments, intraneuronal inclusions and loss of dopaminergic terminals in the striatum. To study the mechanism of action through which mutant alpha-synuclein toxicity is mediated, we have generated stable, inducible cell models expressing wild-type or PD-associated mutant (G209A) alpha-synuclein in human-derived HEK293 cells. Increased expression of either wild-type or mutant alpha-synuclein resulted in the formation of cytoplasmic aggregates which were associated with the vesicular (including monoaminergic) compartment. Expression of mutant alpha-synuclein induced a significant increase in sensitivity to dopamine toxicity compared with the wild-type protein expression. These results provide an explanation for the preferential dopaminergic neuronal degeneration seen in both the PD G209A mutant alpha-synuclein families and suggest that similar mechanisms may underlie or contribute to cell death in sporadic PD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Western
  • Cell Death / drug effects
  • Cell Line
  • Cell Size / drug effects
  • Dopamine / pharmacology*
  • Drug-Related Side Effects and Adverse Reactions
  • Ecdysterone / analogs & derivatives*
  • Ecdysterone / pharmacology
  • Gene Expression
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Immunohistochemistry
  • Male
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / physiology
  • Neurons / drug effects
  • Neurons / pathology
  • Parkinson Disease / genetics*
  • Parkinson Disease / pathology*
  • Parkinson Disease, Secondary / chemically induced
  • Synucleins
  • Transfection
  • alpha-Synuclein

Substances

  • Nerve Tissue Proteins
  • SNCA protein, human
  • Synucleins
  • alpha-Synuclein
  • Ecdysterone
  • ponasterone A
  • Dopamine