RNA G-quadruplexes form scaffolds that promote neuropathological α-synuclein aggregation

Cell. 2024 Nov 27;187(24):6835-6848.e20. doi: 10.1016/j.cell.2024.09.037. Epub 2024 Oct 18.

Abstract

Synucleinopathies, including Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy, are triggered by α-synuclein aggregation, triggering progressive neurodegeneration. However, the intracellular α-synuclein aggregation mechanism remains unclear. Herein, we demonstrate that RNA G-quadruplex assembly forms scaffolds for α-synuclein aggregation, contributing to neurodegeneration. Purified α-synuclein binds RNA G-quadruplexes directly through the N terminus. RNA G-quadruplexes undergo Ca2+-induced phase separation and assembly, accelerating α-synuclein sol-gel phase transition. In α-synuclein preformed fibril-treated neurons, RNA G-quadruplex assembly comprising synaptic mRNAs co-aggregates with α-synuclein upon excess cytoplasmic Ca2+ influx, eliciting synaptic dysfunction. Forced RNA G-quadruplex assembly using an optogenetic approach evokes α-synuclein aggregation, causing neuronal dysfunction and neurodegeneration. The administration of 5-aminolevulinic acid, a protoporphyrin IX prodrug, prevents RNA G-quadruplex phase separation, thereby attenuating α-synuclein aggregation, neurodegeneration, and progressive motor deficits in α-synuclein preformed fibril-injected synucleinopathic mice. Therefore, Ca2+ influx-induced RNA G-quadruplex assembly accelerates α-synuclein phase transition and aggregation, potentially contributing to synucleinopathies.

Keywords: 5-aminolevulinic acid; Ca(2+) influx; RNA G-quadruplex; neurodegeneration; phase separation; sol-gel phase transition; synucleinopathies; α-synuclein.

MeSH terms

  • Animals
  • Calcium* / metabolism
  • G-Quadruplexes*
  • Humans
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Neurons / metabolism
  • Parkinson Disease / metabolism
  • Parkinson Disease / pathology
  • Protein Aggregation, Pathological / metabolism
  • RNA / metabolism
  • Synucleinopathies / metabolism
  • alpha-Synuclein* / chemistry
  • alpha-Synuclein* / metabolism

Substances

  • alpha-Synuclein
  • Calcium
  • RNA