Glucocerebrosidase inhibitors for the treatment of Gaucher disease

Future Med Chem. 2013 Apr;5(5):573-90. doi: 10.4155/fmc.13.14.

Abstract

Gaucher disease is a progressive lysosomal storage disorder caused by a deficiency in the activity of β-glucocerebrosidase and is characterized by the accumulation of the glycosphingolipid glucosylceramide in the lysosomes of macrophages that leads to dysfunction in multiple organ system. An emerging strategy for the treatment of Gaucher disease is pharmacological chaperone therapy, based on the use of β-glucocerebrosidase inhibitors that are capable of enhancing residual hydrolytic activity at subinhibitory concentrations. In this article, the most common lysosomal storage disorder, Gaucher disease, is introduced and the current therapeutic strategies based on the use of enzyme inhibitors to ameliorate this disease are discussed, with a focus on the efforts being made toward finding and optimizing novel molecules as pharmacological chaperones for Gaucher disease that offer the promise to remedy this malady.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Cyclitols / chemistry
  • Cyclitols / pharmacology
  • Cyclitols / therapeutic use
  • Enzyme Inhibitors / chemistry*
  • Enzyme Inhibitors / pharmacology
  • Enzyme Inhibitors / therapeutic use*
  • Gaucher Disease / drug therapy*
  • Gaucher Disease / enzymology*
  • Glucosylceramidase / antagonists & inhibitors*
  • Glucosylceramidase / metabolism
  • Humans
  • Imino Sugars / chemistry
  • Imino Sugars / pharmacology
  • Imino Sugars / therapeutic use
  • Models, Molecular

Substances

  • Cyclitols
  • Enzyme Inhibitors
  • Imino Sugars
  • Glucosylceramidase