Total and reduced/oxidized forms of coenzyme Q₁₀ in fibroblasts of patients with mitochondrial disease

Coenzyme Q₁₀ (CoQ₁₀) is involved in ATP production through electron transfer in the mitochondrial respiratory chain complex. CoQ₁₀ receives electrons from respiratory chain complex I and II to become the reduced form, and then transfers electrons at complex III to become the oxidized form. The redox state of CoQ₁₀ has been reported to be a marker of the mitochondrial metabolic state, but to our knowledge, no reports have focused on the individual quantification of reduced and oxidized CoQ₁₀ or the ratio of reduced to total CoQ₁₀ (reduced/total CoQ₁₀) in patients with mitochondrial diseases. We measured reduced and oxidized CoQ₁₀ in skin fibroblasts from 24 mitochondrial disease patients, including 5 primary CoQ₁₀ deficiency patients and 10 respiratory chain complex deficiency patients, and determined the reduced/total CoQ₁₀ ratio. In primary CoQ₁₀ deficiency patients, total CoQ₁₀ levels were significantly decreased, however, the reduced/total CoQ₁₀ ratio was not changed. On the other hand, in mitochondrial disease patients other than primary CoQ₁₀ deficiency patients, total CoQ₁₀ levels did not decrease. However, the reduced/total CoQ₁₀ ratio in patients with respiratory chain complex IV and V deficiency was higher in comparison to those with respiratory chain complex I deficiency. Measurement of CoQ₁₀ in fibroblasts proved useful for the diagnosis of primary CoQ₁₀ deficiency. In addition, the reduced/total CoQ₁₀ ratio may reflect the metabolic status of mitochondrial disease.