Table 1.
OXPHOS activities in different tissues from the patients measured by spectrophotometric analysis.
| Tissue | Patient | Complex I/CS | Complex II/CS | Complex II + III/CS | Complex III/CS | Complex IV/CS | Citrate synthase⁎ |
|---|---|---|---|---|---|---|---|
| Skeletal muscle | P1 | 0.53 (− 1,83) | 0.61 (− 1.75) | 0.59 (− 2.25) | 0.78 (− 1.57) | 0.89 (− 1.83) | 270 |
| P3 | 0.63 (− 0.17) | 0.69 (0.25) | 0.61 (− 1.75) | 0.79 (− 1.43) | 0.89 (− 1.83) | 190 | |
| Controls (n = 30) | 0.64 ± 0.06 | 0.68 ± 0.04 | 0.68 ± 0.04 | 0.89 ± 0.07 | 1.00 ± 0.06 | 174 ± 70 | |
| Liver | P1 | 0.26 (− 3.46) | 0.89 (− 1.73) | 0.39 (− 5.25) | 0.46 (− 6.00) | 0.57 (− 3.92) | 219 |
| P2 | 0.78 (0.54) | 1.10 (0.18) | 0.84 (0.37) | 1.00 (0.00) | 1.04 (0.00) | 126 | |
| P3 | 0.53 (− 1.38) | 0.93 (− 1.36) | 0.56 (− 3.13) | 0.72 (− 3.11) | 0.71 (− 2.75) | 165 | |
| Controls (n = 22) | 0.71 ± 0.13 | 1.08 ± 0.11 | 0.81 ± 0.08 | 1.00 ± 0.09 | 1.04 ± 0.12 | 79 ± 32 | |
| Cultured skin fibroblasts | P1 | ND | 0.64 (0.60) | 0.63 (− 0.43) | 0.72 (− 2.14) | 0.83 (− 2.60) | 120 |
| Controls (n = 30) | ND | 0.61 ± 0.05 | 0.66 ± 0.07 | 0.87 ± 0.07 | 0.96 ± 0.05 | 82 ± 15 |
Activities are considered deficient when the Z-score is <− 3.0 and are shown in bold.
Abbreviations: CS: citrate synthase; ND: not done.
⁎
Specific activity is expressed as nanomoles of substrate per minute per milligram of protein. All other data are expressed as the logarithm of OXPHOS activity divided by the logarithm of citrate synthase activity. Control sample ratios, shown in italics, are given as mean ± SD. The Z-scores, values inside parentheses, are calculated as the activity ratio for the patient sample minus the mean activity ratio for the control samples divided by the SD for the control samples.