4-Phenylbutyrate rescues trafficking incompetent mutant alpha-galactosidase A without restoring its functionality

Biochem Biophys Res Commun. 2007 Aug 24;360(2):375-80. doi: 10.1016/j.bbrc.2007.06.048. Epub 2007 Jun 18.

Abstract

Fabry disease is a lysosomal storage disorder caused by deficiency of alpha-galactosidase A. Most mutant enzyme is catalytically active but due to misfolding retained in the endoplasmic reticulum. We have tested 4-phenylbutyrate for its potential to rescue various trafficking incompetent mutant alpha-galactosidase A. Although we found that the trafficking blockade for endoplasmic reticulum-retained mutant alpha-Gal A was released, neither a mature enzyme was detectable in transgenic mice fibroblasts nor a reversal of lysosomal Gb3 storage in fibroblasts from Fabry patients could be observed. Because of lack of functionality of rescued mutant alpha-galactosidase A, 4-phenylbutyrate seems to be of limited use as a chemical chaperone for Fabry disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cells, Cultured
  • Dose-Response Relationship, Drug
  • Fabry Disease / genetics
  • Fabry Disease / metabolism*
  • Fibroblasts / metabolism*
  • Humans
  • Mice
  • Mice, Transgenic
  • Mutation
  • Phenylbutyrates / administration & dosage
  • Phenylbutyrates / metabolism*
  • Protein Transport / drug effects
  • Protein Transport / physiology*
  • alpha-Galactosidase / genetics
  • alpha-Galactosidase / metabolism*

Substances

  • Phenylbutyrates
  • 4-phenylbutyric acid
  • alpha-Galactosidase