Platelet mitochondrial function in Leber's hereditary optic neuropathy

J Neurol Sci. 1994 Mar;122(1):80-3. doi: 10.1016/0022-510x(94)90055-8.

Abstract

We report the effect of the 11,778 and 3460 base pair mitochondrial DNA mutations, found in Leber's hereditary optic neuropathy (LHON), on platelet mitochondrial respiratory chain enzyme activity. We measured respiratory chain enzyme activities in platelets from 4 patients with the 3460 mutation, 17 patients with the 11,778 mutation and compared them with those of 41 healthy age-matched controls. We observed a 67% (P < 0.001) reduction in the mean NADH CoQ1 reductase (complex I) activity of the 3460 group compared to the control group. It has been shown previously that platelet mitochondrial biochemistry is affected by cigarette smoking. A significant reduction (25%, P < 0.03) in the mean complex I activity of the 11,778 group was only observed when the non-smokers within that group were compared to the non-smoking controls. The effect of smoking observed in this study may explain why previous workers have not observed a decrease in complex I activity associated with the 11,778 mutation. There was no significant change in the activity of complexes II/III or IV with either of these mutations. There was a significant increase (26%, P < 0.008) in citrate synthase (CS) activity with the non-smoking 11,778 group compared to the non-smoking control group, rising to 40% (P < 0.002) in those with this mutation who smoked. This reflects an increase in mitochondrial mass with the 11,778 mutation. This effect was not observed with the 3460 mutation even though the complex deficiency was much more severe.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Platelets / enzymology*
  • Blood Platelets / ultrastructure
  • Citrate (si)-Synthase / blood
  • DNA, Mitochondrial / metabolism
  • Electron Transport Complex I
  • Electron Transport Complex IV / blood
  • Humans
  • Mitochondria / enzymology*
  • Mutation
  • NADH, NADPH Oxidoreductases / blood
  • Optic Atrophies, Hereditary / blood*
  • Optic Atrophies, Hereditary / enzymology
  • Smoking / blood
  • Succinate Cytochrome c Oxidoreductase / blood

Substances

  • DNA, Mitochondrial
  • Succinate Cytochrome c Oxidoreductase
  • NADH, NADPH Oxidoreductases
  • Electron Transport Complex IV
  • Citrate (si)-Synthase
  • Electron Transport Complex I