Enhancing the Activity of Glucocerebrosidase as a Treatment for Parkinson Disease

CNS Drugs. 2020 Sep;34(9):915-923. doi: 10.1007/s40263-020-00746-0.

Abstract

Mutations in the glucocerebrosidase (GBA1) gene are the most common genetic risk factor for Parkinson disease (PD). Homozygous or compound heterozygous GBA1 mutations cause the lysosomal storage disorder Gaucher disease (GD), characterized by deficient activity of the glucocerebrosidase enzyme (GCase). Both individuals with GD type I and heterozygous carriers of pathogenic variants of GBA1 have an increased risk of developing PD, by approximately ten- to 20-fold compared to non-carriers. GCase activity is also reduced in PD patients without GBA1 mutations, suggesting that the GCase lysosomal pathway might be involved in PD pathogenesis. Available evidence indicates that GCase can affect α-synuclein pathology in different ways. Misfolded GCase proteins are retained in the endoplasmic reticulum, altering the lysosomal trafficking of the enzyme and disrupting protein trafficking. Also, deficient GCase leads to accumulation of substrates that in turn may bind α-synuclein and promote pathological formation of aggregates. Furthermore, α-synuclein itself can lower the enzymatic activity of GCase, indicating that a bidirectional interaction exists between GCase and α-synuclein. Targeted therapies aimed at enhancing GCase activity, augmenting the trafficking of misfolded GCase proteins by small molecule chaperones, or reducing substrate accumulation, have been tested in preclinical and clinical trials. This article reviews the molecular mechanisms linking GCase to α-synuclein and discusses the therapeutic drugs that by targeting the GCase pathway can influence PD progression.

Publication types

  • Review

MeSH terms

  • Animals
  • Disease Progression
  • Endoplasmic Reticulum / metabolism
  • Genetic Predisposition to Disease
  • Glucosylceramidase / genetics*
  • Humans
  • Mutation
  • Parkinson Disease / genetics
  • Parkinson Disease / physiopathology*
  • Parkinson Disease / therapy
  • Protein Folding
  • Risk Factors
  • alpha-Synuclein / metabolism*

Substances

  • alpha-Synuclein
  • GBA protein, human
  • Glucosylceramidase