Table 1.
OXPHOS spectrophotometric analyses.
| Proband | Tissue | Complex I/CS | Complex II/CS | Complex II + III/CS | Complex III/CS | Complex IV/CS | Citrate synthase |
|---|---|---|---|---|---|---|---|
| Proband 1 | Skeletal muscle | 67 [− 1.69] | 149 [− 0.14] | 128 [− 0.78] | 260 [− 1.71] | 337 [− 3.10] | 347 |
| Controls (n = 30) | 170 ± 47 | 197 ± 40 | 200 ± 46 | 598 ± 204 | 1008 ± 287 | 174 ± 70 | |
| Proband 1 | Cultured skin fibroblasts | ND | 116 [− 1.68] | 168 [− 0.75] | 495 [− 0.29] | 352 [− 3.80] | 94 |
| Controls (n = 30) | ND | 189 ± 45 | 233 ± 71 | 586 ± 165 | 847 ± 169 | 82 ± 15 | |
| Proband 2 | Skeletal muscle | 168 [− 0.42] | 386 [0.23] | 330 [0.05] | 88 [0.44] | 21 [1.23] | 183 |
| Controls (n = 22) | 178 ± 52 | 357 ± 131 | 276 ± 108 | 70 ± 49 | 11 ± 6 | 257 ± 69 | |
| Proband 2 | Cultured skin fibroblasts | 131 [− 2.04] | 682 [0.54] | 412 [1.51] | 59 [1.13] | 8 [− 1.27] | 346 |
| Controls (n = 32) | 229 ± 75 | 595 ± 175 | 248 ± 85 | 39 ± 21 | 12 ± 5 | 407 ± 112 |
Data are expressed as the OXPHOS activity over citrate synthase activity. Between brackets is the Z-score based on the logarithm of OXPHOS activity divided by the logarithm of citrate synthase activity. Control sample ratios are given as mean ± SD. Z-scores lower than − 1.96 are significantly different (P < 0.05) from the control samples and are considered to be deficient activities. Deficient activities are shown in bold. ND: not determined. Citrate synthase activity expressed as nanomoles of substrate per minute per milligram of protein.