Isogenic human iPSC Parkinson's model shows nitrosative stress-induced dysfunction in MEF2-PGC1α transcription

Cell. 2013 Dec 5;155(6):1351-64. doi: 10.1016/j.cell.2013.11.009. Epub 2013 Nov 27.

Abstract

Parkinson's disease (PD) is characterized by loss of A9 dopaminergic (DA) neurons in the substantia nigra pars compacta (SNpc). An association has been reported between PD and exposure to mitochondrial toxins, including environmental pesticides paraquat, maneb, and rotenone. Here, using a robust, patient-derived stem cell model of PD allowing comparison of A53T α-synuclein (α-syn) mutant cells and isogenic mutation-corrected controls, we identify mitochondrial toxin-induced perturbations in A53T α-syn A9 DA neurons (hNs). We report a pathway whereby basal and toxin-induced nitrosative/oxidative stress results in S-nitrosylation of transcription factor MEF2C in A53T hNs compared to corrected controls. This redox reaction inhibits the MEF2C-PGC1α transcriptional network, contributing to mitochondrial dysfunction and apoptotic cell death. Our data provide mechanistic insight into gene-environmental interaction (GxE) in the pathogenesis of PD. Furthermore, using small-molecule high-throughput screening, we identify the MEF2C-PGC1α pathway as a therapeutic target to combat PD.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Gene-Environment Interaction*
  • Humans
  • Induced Pluripotent Stem Cells / metabolism
  • MEF2 Transcription Factors
  • Mitochondria / drug effects*
  • Mutation / drug effects
  • Neurons / metabolism
  • Oxidative Stress
  • Paraquat / toxicity*
  • Parkinson Disease / genetics*
  • Parkinson Disease / metabolism
  • Parkinson Disease / pathology*
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha
  • Reactive Nitrogen Species / metabolism
  • Substantia Nigra / metabolism
  • Transcription Factors / metabolism
  • Transcription, Genetic
  • alpha-Synuclein / genetics
  • alpha-Synuclein / metabolism

Substances

  • MEF2 Transcription Factors
  • MEF2C protein, human
  • PPARGC1A protein, human
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha
  • Reactive Nitrogen Species
  • Transcription Factors
  • alpha-Synuclein
  • Paraquat

Associated data

  • GEO/GSE46798