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Related Experiment Videos

Platelet mitochondrial function in Leber's hereditary optic neuropathy

P R Smith1, J M Cooper, G G Govan

  • 1Department of Neurosciences, Royal Free Hospital School of Medicine, London, UK.

Journal of the Neurological Sciences
|March 1, 1994
PubMed
Summary

The 3460 mitochondrial DNA mutation severely reduces platelet complex I activity in Leber

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Area of Science:

  • Mitochondrial genetics
  • Human genetics
  • Biochemistry

Background:

  • Leber's hereditary optic neuropathy (LHON) is linked to specific mitochondrial DNA mutations.
  • Platelet mitochondrial respiratory chain enzyme activity is a potential biomarker for LHON.
  • Cigarette smoking is known to affect platelet mitochondrial biochemistry.

Purpose of the Study:

  • To investigate the impact of LHON-associated mitochondrial DNA mutations (11,778 and 3460) on platelet mitochondrial respiratory chain enzyme activity.
  • To explore the influence of smoking on these enzyme activities in LHON patients.

Main Methods:

  • Measurement of respiratory chain enzyme activities (Complex I, II/III, IV, and Citrate Synthase) in platelets.
  • Comparison of enzyme activities between patients with 11,778 and 3460 mutations and healthy controls.

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  • Stratification of analysis based on smoking status.

    • Main Results:

    • The 3460 mutation caused a significant 67% reduction in Complex I activity.
    • The 11,778 mutation showed a significant 25% reduction in Complex I activity only in non-smokers.
    • Citrate Synthase activity increased with the 11,778 mutation, indicating increased mitochondrial mass, especially in smokers.

    Conclusions:

    • The 3460 mutation severely impairs platelet Complex I activity, while the 11,778 mutation's effect on Complex I is modulated by smoking.
    • Smoking exacerbates mitochondrial alterations in patients with the 11,778 mutation.
    • Mitochondrial mass increases with the 11,778 mutation, but not the 3460 mutation.