Mutant glucocerebrosidase impairs α-synuclein degradation by blockade of chaperone-mediated autophagy

Sci Adv. 2022 Feb 11;8(6):eabm6393. doi: 10.1126/sciadv.abm6393. Epub 2022 Feb 9.

Abstract

The most common genetic risk factors for Parkinson's disease (PD) are a set of heterozygous mutant (MT) alleles of the GBA1 gene that encodes β-glucocerebrosidase (GCase), an enzyme normally trafficked through the ER/Golgi apparatus to the lysosomal lumen. We found that half of the GCase in lysosomes from postmortem human GBA-PD brains was present on the lysosomal surface and that this mislocalization depends on a pentapeptide motif in GCase used to target cytosolic protein for degradation by chaperone-mediated autophagy (CMA). MT GCase at the lysosomal surface inhibits CMA, causing accumulation of CMA substrates including α-synuclein. Single-cell transcriptional analysis and proteomics of brains from GBA-PD patients confirmed reduced CMA activity and proteome changes comparable to those in CMA-deficient mouse brain. Loss of the MT GCase CMA motif rescued primary substantia nigra dopaminergic neurons from MT GCase-induced neuronal death. We conclude that MT GBA1 alleles block CMA function and produce α-synuclein accumulation.

MeSH terms

  • Animals
  • Chaperone-Mediated Autophagy*
  • Glucosylceramidase / genetics
  • Glucosylceramidase / metabolism
  • Humans
  • Mice
  • Mutation
  • Parkinson Disease* / genetics
  • Parkinson Disease* / metabolism
  • alpha-Synuclein / genetics

Substances

  • alpha-Synuclein
  • Glucosylceramidase