Table 2.
Biochemical analysis of patient fibroblasts and muscle biopsies
| OXPHOS activities (spectrophotometry) | I | II | III | IV | V | G3P + III | II + III | CS | CoQ10 quantity (LC-MSMS) | CoQ10 |
|---|---|---|---|---|---|---|---|---|---|---|
| Fibroblast measurements | ||||||||||
| Control values (nmole/min/mg of proteins) | 9.0–27.1 | 21.0–54.0 | 62.0–176.2 | 109.9–350.0 | 22.0–46.2 | 6.5–23.0 | 15.0–37.2 | 74.7–161.1 | Control values (pmole/mg of proteins) | 43.0–120.8 |
| P01 | 11.2 | 27.7 | 89.7 | 29.2 | 33.5 | 2.3 | 7.5 | 156.2 | P01 | 1.4 |
| P03 | 11.5 | 18.5 | 21.3 | 177.7 | 34.1 | 4.1 | 12.5 | 106.7 | P03 | 65.4 |
| P04 | 7.5 | 18.6 | 40.2 | 108.2 | 30.5 | 4.7 | 8.6 | 95.0 | P04 | 9.7 |
| P06 | 11.6 | 20.6 | 47.9 | 78.1 | 37.6 | 5.5 | 10.8 | 116.6 | P06 | 5.9 |
| P09 | 12.0 | 13.4 | 53.4 | 57.0 | 15.8 | 4.1 | 8.9 | 80.9 | P09 | 62.0 |
| P10 | 13.5 | 22.9 | 54.4 | 65.0 | 28.3 | 5.4 | 12.0 | 148.2 | P10 | 55.9 |
| P12 | 10.9 | 17.6 | 76.6 | 173.3 | 25.0 | 4.4 | 10.1 | 102.5 | P12 | 62.1 |
| P16 | 11.2 | 20.7 | 57.4 | 134.9 | 38.3 | 6.1 | 14.5 | 124.0 | P16 | 5.7 |
| P17 | 12.9 | 20.0 | 61.5 | 181.7 | 29.3 | 5.6 | 14.7 | 130.3 | P17 | 58.1 |
| P18 | 14.4 | 22.5 | 39.4 | 78.9 | 39.3 | 5.5 | 13.2 | 147.0 | P18 | 58.2 |
| Muscle biopsy measurements | ||||||||||
| Control values (nmole/min/mg of proteins) | 11.0–32.0 | 22.0–65.0 | 109.0–236.0 | 93.0-347.0 | 40.0–89.0 | 14.0–50.0 | 20.0–50.0 | 82.0–234.0 | Control values (pmole/mg of proteins) | 17.8 –22.2 |
| P02 | 6.7 | 21.5 | 130.4 | 56.9 | 32.5 | 7.4 | 10.8 | 113.4 | P02 | 16.0 |
| P05 | 5.7 | 21.2 | 28.9 | 59.4 | 12.7 | 10.9 | 15.2 | 122.2 | P05 | 35.5 |
| P07 | 4.2 | 28.6 | 108.8 | 170.4 | 50.0 | 10.5 | 16.7 | 272.4 | P07 | 25.9 |
| P08 | 10.9 | 14.1 | 102.5 | 92.8 | 63.3 | 10.8 | 17.0 | 116.5 | P08 | 5.7 |
| P11 | 25.7 | 29.7 | 157.6 | 80.2 | 45.0 | 13.6 | 19.6 | 109.9 | P11 | 6.2 |
| P13 | 7.6 | 28.9 | 112.7 | 212.7 | 58.4 | 9.4 | 13.4 | 192.6 | P13 | 22.4 |
| P14 | 15.5 | 26.6 | 31.6 | 154.5 | 32.8 | 13.7 | 13.2 | 100.5 | P14 | 22.2 |
| P15 | 16.2 | 20.0 | 92.3 | 191.7 | 39.8 | 11.9 | 17.5 | 86.1 | P15 | 7.1 |
Respiratory chain enzyme activities were measured spectrophotometrically. Results are expressed as absolute values for controls or patients (in nanomoles of substrate per minute per milligram of protein). CoQ10 quantity was measured by LC-MSMS. Results are expressed as absolute values for controls or patients (in picomoles per milligram of protein). Abnormal values are shown in italics
OXPHOS oxidative phosphorylation; LC-MSMS liquid chromatography coupled with tandem mass spectrometry detection