Table 1.
CoQ10 levels and the mitochondrial respiratory chain enzyme activies in the patient with ADCK3 S616Lfs mutation
| Patient | Control | P/C ratio | p Value | |
|---|---|---|---|---|
| CoQ 10 levels (pmol/mg) | ||||
| In serum | 43.00 | 37–133* | / | |
| In fibroblasts | 31.29 | 89.3† (n=50) | 35.0% | <0.05 |
| MRC enzyme activity | ||||
| CI/CS | 0.15±0.167 | 0.82±0.18 (n=3) | 18.3% | <0.05 |
| CII+CIII/CS | 0.046±0.03 | 0.122±0.02 (n=3) | 37.7% | <0.05 |
| CIV/S | 0.017±0.0052 | 0.015±0.004 (n=3) | 113.3% | ns |
Abnormal values are shown in bold. When experiments were carried out more than once, values are given as means±SE of the mean.
*From the diagnostic laboratory at National Hospital of Neurology and Neurosurgery, Queen Square, London, UK.
†Reference range 57.0–121.6 pmol/mg, average 89.3 pmol/mg; Age: 20.75±1.4 years (range, 0.03–55 years); ratio of males to females, 2:3.12
CI, complex I (NADH ubiquinone oxidoreductase); CII, complex II (succinate ubiquinone oxidoreductase); CIII, complex III (ubiquinol cytochrome c oxidoreductase); CIV, complex IV (cytochrome c oxidase: EC 1.9.3.1); CS, citrate synthase; MRC enzyme activity, the mitochondrial respiratory chain enzyme activities assessed in patient's fibroblasts; P/C ratio, the ratio of patient's measurement to control value.