Mitochondrial complex V expression and activity in cystinotic fibroblasts

Pediatr Res. 2008 Nov;64(5):495-7. doi: 10.1203/PDR.0b013e318183fd67.


Alterations in ATP metabolism have been proposed to be involved in the pathogenesis of cystinosis, the most common form of inherited Fanconi syndrome. A recent study showed normal activity of respiratory chain complexes I-IV with decreased ATP levels in cystinotic fibroblasts. Here, we show normal complex V expression and activity in mitochondria of cystinotic fibroblasts. This indicates that alterations in mitochondrial oxidative phosphorylation enzymes are not responsible for ATP decrease in cystinotic fibroblasts.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphate / metabolism
  • Blotting, Western
  • Case-Control Studies
  • Cells, Cultured
  • Cystinosis / enzymology*
  • Fibroblasts / enzymology*
  • Humans
  • Mitochondria / enzymology*
  • Mitochondrial Proton-Translocating ATPases / metabolism*
  • Oxidative Phosphorylation


  • complex V (mitochondrial oxidative phosphorylation system)
  • Adenosine Triphosphate
  • Mitochondrial Proton-Translocating ATPases