Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria

Nat Commun. 2023 Oct 11;14(1):6383. doi: 10.1038/s41467-023-42107-7.

Abstract

β-Glucocerebrosidase (GCase) mutations lead to glucosylceramide build-up in the lysosome, impacting α-synuclein aggregation and autophagy. Recently, Baden and colleagues found GCase in mitochondria, supporting mitochondrial complex I function and energy metabolism. We believe the newly described role of GCase in the mitochondria will inform new Parkinson’s and Gaucher’s disease therapeutics.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Gaucher Disease* / genetics
  • Glucosylceramidase* / genetics
  • Humans
  • Lysosomes
  • Mitochondria / genetics
  • Mutation

Substances

  • Glucosylceramidase