Polarographic and spectrophotometric assays of respiratory chain activity in patients and controls
| Pyruvate (plus malate) oxidation | Succinate oxidation | CI | CII+CIII | CIII | CIV | Succinate/pyruvate oxidation ratio | CIV/CI ratio | |
|---|---|---|---|---|---|---|---|---|
| (nmol/min/mg protein) | ||||||||
| Bold letters denote abnormal values. Determinations were done in three different investigation centres using their own reference values, as indicated in the brackets. However, all investigations resulted in a similar conclusion, that there was complex I deficiency causing decreased pyruvate plus malate oxidation. | ||||||||
| *Values obtained after treatment of cultured skin fibroblasts with digitonin and Percoll, as recently described.15 | ||||||||
| Patient 1 | ||||||||
| Skeletal muscle mitochondria | 20 (94±48) | ND | 50 (243±60) | 360 (534±206) | ND | 2588 (2582±686 ) | ND | 64.7 (<18) |
| Cultured skin fibroblasts | 2.7 (3.3 to 6.8) | 7.8 (6.5 to 14.3) | 16* (21 to 39) | 18 (21 to 42) | 179* (126 to 211) | 344* (226 to 335) | 2.9 (1.9±0.3) | 20.9* (9.6±1.4) |
| Patient 2 (fetus) | ||||||||
| Cultured amniocytes | 6.9 (7.7 to 9.5) | 13.8 (8.8 to 13.6) | – | – | 67 (60 to 95) | 96 (68 to 97) | 2.0 (1.3±0.2) | – |