Cystine dimethylester model of cystinosis: still reliable?

Pediatr Res. 2007 Aug;62(2):151-5. doi: 10.1203/PDR.0b013e31809fd9a7.

Abstract

The ability of cystine dimethylester (CDME) to load lysosomes with cystine has been used to establish the basic defect in cystinosis: defective cystine exodus from lysosomes. Using CDME loading, it has been postulated that cystine accumulation in cystinosis affects mitochondrial ATP production, resulting in defective renal tubular reabsorption. Recent studies in cystinotic fibroblasts, however, show normal adenosine triphosphate (ATP) generation capacity. To investigate the effect of CDME in more detail, mitochondrial ATP generation, reactive oxygen species production, and viability are compared in fibroblasts loaded with CDME with those of cystinotic cells with a defective cystine transporter. Intracellular cystine levels were comparable in fibroblasts loaded with CDME (1 mM, 30 min) and cystinotic fibroblasts. Intracellular ATP levels and mitochondrial ATP production were decreased in fibroblasts loaded with CDME, but normal in cystinotic fibroblasts. Superoxide production was increased with 300% after CDME loading, whereas no changes were observed in cystinotic fibroblasts. Exposure to CDME led to cell death in a time- and concentration-dependent manner. Our data demonstrate that CDME has a toxic effect on mitochondrial ATP production and cell viability. These effects are not observed in cystinotic cells, indicating that a more appropriate model is required for studying the pathogenesis of cystinosis.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Adenosine Triphosphate / metabolism
  • Amino Acid Transport Systems, Neutral / genetics
  • Amino Acid Transport Systems, Neutral / metabolism*
  • Cell Survival / drug effects
  • Cells, Cultured
  • Cystine / analogs & derivatives*
  • Cystine / metabolism
  • Cystine / toxicity
  • Cystinosis / genetics
  • Cystinosis / metabolism*
  • Cystinosis / pathology
  • Dose-Response Relationship, Drug
  • Fibroblasts / drug effects*
  • Fibroblasts / metabolism
  • Fibroblasts / pathology
  • Gene Deletion
  • Humans
  • Lysosomes / drug effects
  • Lysosomes / metabolism
  • Lysosomes / pathology
  • Mitochondria / drug effects*
  • Mitochondria / metabolism
  • Mitochondria / pathology
  • Reproducibility of Results
  • Skin / drug effects*
  • Skin / metabolism
  • Skin / pathology
  • Sodium-Potassium-Exchanging ATPase / metabolism
  • Superoxides / metabolism
  • Time Factors

Substances

  • Amino Acid Transport Systems, Neutral
  • CTNS protein, human
  • Superoxides
  • Cystine
  • Adenosine Triphosphate
  • Sodium-Potassium-Exchanging ATPase
  • cystine dimethyl ester