CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy

Proc Natl Acad Sci U S A. 2011 Jul 19;108(29):12101-6. doi: 10.1073/pnas.1108197108. Epub 2011 Jul 5.

Abstract

Emerging genetic and clinical evidence suggests a link between Gaucher disease and the synucleinopathies Parkinson disease and dementia with Lewy bodies. Here, we provide evidence that a mouse model of Gaucher disease (Gba1(D409V/D409V)) exhibits characteristics of synucleinopathies, including progressive accumulation of proteinase K-resistant α-synuclein/ubiquitin aggregates in hippocampal neurons and a coincident memory deficit. Analysis of homozygous (Gba1(D409V/D409V)) and heterozygous (Gba1(D409V/+) and Gba1(+/-)) Gaucher mice indicated that these pathologies are a result of the combination of a loss of glucocerebrosidase activity and a toxic gain-of-function resulting from expression of the mutant enzyme. Importantly, adeno-associated virus-mediated expression of exogenous glucocerebrosidase injected into the hippocampus of Gba1(D409V/D409V) mice ameliorated both the histopathological and memory aberrations. The data support the contention that mutations in GBA1 can cause Parkinson disease-like α-synuclein pathology, and that rescuing brain glucocerebrosidase activity might represent a therapeutic strategy for GBA1-associated synucleinopathies.

MeSH terms

  • Analysis of Variance
  • Animals
  • Blotting, Western
  • Dependovirus
  • Endopeptidase K / metabolism
  • Gaucher Disease / metabolism
  • Gaucher Disease / pathology*
  • Gene Transfer Techniques
  • Genetic Vectors / genetics
  • Glucosylceramidase / genetics
  • Glucosylceramidase / metabolism*
  • Hippocampus / cytology
  • Hippocampus / enzymology*
  • Immunohistochemistry
  • Mice
  • alpha-Synuclein / metabolism*

Substances

  • alpha-Synuclein
  • Glucosylceramidase
  • Endopeptidase K