Table 3 Respiratory chain dysfunction in Leber hereditary optic neuropathy
MtDNA mutationIn vitro88 235249In vivo6367
Complex I activity (%)Respiratory rate (%)ATP synthesis (%)31P MRS (%)
m.3460G>A60–8030–35900–40
m.11778G>A0–5030–503575
m.14484T>C0–6510–209050
  • ATP, adenosine triphosphate; 31P-MRS, phosphorus magnetic resonance spectroscopy.

  • % decrease relative to controls.