Mitochondrial and cytosolic thiol redox state are not detectably altered in isolated human NADH:ubiquinone oxidoreductase deficiency

Biochim Biophys Acta. 2007 Sep;1772(9):1041-51. doi: 10.1016/j.bbadis.2007.05.004. Epub 2007 May 25.

Abstract

Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation (OXPHOS) system, causing a wide range of clinical phenotypes. We reported before that the rates at which reactive oxygen species (ROS)-sensitive dyes are converted into their fluorescent oxidation products are markedly increased in cultured skin fibroblasts of patients with nuclear-inherited isolated complex I deficiency. Using video-imaging microscopy we show here that these cells also display a marked increase in NAD(P)H autofluorescence. Linear regression analysis revealed a negative correlation with the residual complex I activity and a positive correlation with the oxidation rates of the ROS-sensitive dyes 5-(and-6)-chloromethyl-2',7'-dichlorodihydrofluorescein and hydroethidine for a cohort of 10 patient cell lines. On the other hand, video-imaging microscopy of cells expressing reduction-oxidation sensitive GFP1 in either the mitochondrial matrix or cytosol showed the absence of any detectable change in thiol redox state. In agreement with this result, neither the glutathione nor the glutathione disulfide content differed significantly between patient and healthy fibroblasts. Finally, video-rate confocal microscopy of cells loaded with C11-BODIPY(581/591) demonstrated that the extent of lipid peroxidation, which is regarded as a measure of oxidative damage, was not altered in patient fibroblasts. Our results indicate that fibroblasts of patients with isolated complex I deficiency maintain their thiol redox state despite marked increases in ROS production.

Publication types

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

MeSH terms

  • Adult
  • Case-Control Studies
  • Cells, Cultured
  • Child, Preschool
  • Cytosol / metabolism*
  • Electron Transport Complex I / deficiency*
  • Electron Transport Complex I / metabolism
  • Fibroblasts / drug effects
  • Fibroblasts / metabolism
  • Glutathione / metabolism
  • Humans
  • Infant
  • Infant, Newborn
  • Lipid Peroxidation
  • Mitochondria / metabolism*
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / metabolism*
  • Oxidation-Reduction*
  • Rotenone / pharmacology
  • Sulfhydryl Compounds / metabolism*
  • Uncoupling Agents / pharmacology

Substances

  • Sulfhydryl Compounds
  • Uncoupling Agents
  • Rotenone
  • Electron Transport Complex I
  • Glutathione