Phenotypic manifestation of α-synuclein strains derived from Parkinson's disease and multiple system atrophy in human dopaminergic neurons

Nat Commun. 2021 Jun 21;12(1):3817. doi: 10.1038/s41467-021-23682-z.

Abstract

α-Synuclein is critical in the pathogenesis of Parkinson's disease and related disorders, yet it remains unclear how its aggregation causes degeneration of human dopaminergic neurons. In this study, we induced α-synuclein aggregation in human iPSC-derived dopaminergic neurons using fibrils generated de novo or amplified in the presence of brain homogenates from Parkinson's disease or multiple system atrophy. Increased α-synuclein monomer levels promote seeded aggregation in a dose and time-dependent manner, which is associated with a further increase in α-synuclein gene expression. Progressive neuronal death is observed with brain-amplified fibrils and reversed by reduction of intraneuronal α-synuclein abundance. We identified 56 proteins differentially interacting with aggregates triggered by brain-amplified fibrils, including evasion of Parkinson's disease-associated deglycase DJ-1. Knockout of DJ-1 in iPSC-derived dopaminergic neurons enhance fibril-induced aggregation and neuronal death. Taken together, our results show that the toxicity of α-synuclein strains depends on aggregate burden, which is determined by monomer levels and conformation which dictates differential interactomes. Our study demonstrates how Parkinson's disease-associated genes influence the phenotypic manifestation of strains in human neurons.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / metabolism
  • Brain / pathology
  • Cell Death
  • Dopaminergic Neurons / drug effects
  • Dopaminergic Neurons / metabolism
  • Dopaminergic Neurons / pathology*
  • Humans
  • Induced Pluripotent Stem Cells
  • Multiple System Atrophy / metabolism
  • Multiple System Atrophy / pathology*
  • Parkinson Disease / metabolism
  • Parkinson Disease / pathology*
  • Phenotype
  • Protein Aggregates
  • Protein Aggregation, Pathological
  • Protein Conformation
  • Protein Deglycase DJ-1 / metabolism
  • Protein Interaction Mapping
  • alpha-Synuclein / chemistry
  • alpha-Synuclein / metabolism*
  • alpha-Synuclein / toxicity

Substances

  • Protein Aggregates
  • alpha-Synuclein
  • PARK7 protein, human
  • Protein Deglycase DJ-1