Identification of Ezetimibe and Pranlukast as Pharmacological Chaperones for the Treatment of the Rare Disease Mucopolysaccharidosis Type IVA

J Med Chem. 2019 Jul 11;62(13):6175-6189. doi: 10.1021/acs.jmedchem.9b00428. Epub 2019 Jun 25.

Abstract

Mucopolysaccharidosis type IVA (MPS IVA) is a rare disease caused by mutations in the gene encoding the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). We report here two GALNS pharmacological chaperones, ezetimibe and pranlukast, identified by molecular docking-based virtual screening. These compounds bound to the active cavity of GALNS and increased its thermal stability as well as the production of recombinant GALNS in bacteria, yeast, and HEK293 cells. MPS IVA fibroblasts treated with these chaperones exhibited increases in GALNS protein and enzyme activity and reduced the size of enlarged lysosomes. Abnormalities in autophagy markers p62 and LC3B-II were alleviated by ezetimibe and pranlukast. Combined treatment of recombinant GALNS with ezetimibe or pranlukast produced an additive effect. Altogether, the results demonstrate that ezetimibe and pranlukast can increase the yield of recombinant GALNS and be used as a monotherapy or combination therapy to improve the therapeutic efficacy of MPS IVA enzyme replacement therapy.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Catalytic Domain
  • Chondroitinsulfatases / antagonists & inhibitors
  • Chondroitinsulfatases / genetics
  • Chondroitinsulfatases / metabolism*
  • Chromones / metabolism
  • Chromones / pharmacology*
  • Enzyme Inhibitors / metabolism
  • Enzyme Inhibitors / pharmacology*
  • Ezetimibe / metabolism
  • Ezetimibe / pharmacology*
  • Fibroblasts / metabolism
  • HEK293 Cells
  • Humans
  • Lysosomes / metabolism
  • Microtubule-Associated Proteins / metabolism
  • Molecular Docking Simulation
  • Molecular Dynamics Simulation
  • Mucopolysaccharidosis IV / drug therapy
  • Pichia / genetics
  • Protein Binding / drug effects
  • Protein Stability / drug effects
  • RNA-Binding Proteins / metabolism
  • Rare Diseases / drug therapy
  • Recombinant Proteins / metabolism

Substances

  • Chromones
  • Enzyme Inhibitors
  • MAP1LC3B protein, human
  • Microtubule-Associated Proteins
  • P62 protein, human
  • RNA-Binding Proteins
  • Recombinant Proteins
  • Chondroitinsulfatases
  • GALNS protein, human
  • Ezetimibe
  • pranlukast