Glutathione precursors replenish decreased glutathione pool in cystinotic cell lines

Biochem Biophys Res Commun. 2004 Nov 5;324(1):231-5. doi: 10.1016/j.bbrc.2004.09.033.


Cystinosis is an inherited disorder due to mutations in the CTNS gene which encodes cystinosin, a lysosomal transmembrane protein involved in cystine export to the cytosol. Both accumulation of cystine in the lysosome and decreased cystine in the cytosol may participate in the pathogenic mechanism underlying the disease. We observed that cystinotic cell lines have moderate decrease of glutathione content during exponential growth phase. This resulted in increased solicitation of oxidative defences of the cell denoted by concurrent superoxide dismutase induction, although without major oxidative insult under our experimental conditions. Finally, decreased glutathione content in cystinotic cell lines could be counterbalanced by a series of exogenous precursors of cysteine, denoting that lysosomal cystine export is a natural source of cellular cysteine in the studied cell lines.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Transport Systems, Neutral
  • Animals
  • Cell Line
  • Child
  • Cystine / metabolism
  • Cystinosis / genetics
  • Cystinosis / metabolism*
  • Cystinosis / pathology
  • Fibroblasts / cytology
  • Fibroblasts / metabolism
  • Glutathione / metabolism*
  • Glycoproteins / genetics
  • Glycoproteins / metabolism
  • Humans
  • Infant
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism
  • Membrane Transport Proteins
  • Mutation
  • Oxidation-Reduction
  • Protein Precursors / metabolism*
  • Superoxide Dismutase / metabolism


  • Amino Acid Transport Systems, Neutral
  • CTNS protein, human
  • Glycoproteins
  • Membrane Proteins
  • Membrane Transport Proteins
  • Protein Precursors
  • Cystine
  • Superoxide Dismutase
  • Glutathione

Associated data

  • OMIM/219750
  • OMIM/219800
  • OMIM/219900