Table 1. Peak exercise parameters, 31P-MRS examination on calf evaluating in vivo mitochondrial function and assessment of respiratory chain complex activities in skeletal muscle homogenates.
BPM, beats per min; DCPIP, 2,6-dichlorophenol-indophenol; n/a, not available; t1/2 PCR (s), half time for PCR recovery from end exercise to baseline concentrations; VO2, oxygen uptake. Enzyme activities are expressed as nmol of NADH oxidized/min per unit of citrate synthase (CS) for CI, nmol of DCPIP reduced/min per unit of CS for CII (succinate:ubiquinone-1 reductase) and the apparent first-order rate constant/s per unit of CS for CIII and CIV (×103).
| Parameter | Patient 1 | Patient 2 | Reference data (means ± S.D.) |
|---|---|---|---|
| CPET | |||
| Peak exercise data | Absolute value (% of predicted) | Absolute value (% of predicted) | n/a |
| Heart rate (BPM) | 172 (89) | 180 (92) | n/a |
| VO2 (ml/min) | 0.575 (27) | 0.638 (22) | n/a |
| VO2 (ml/min per kg) | 8 (27) | 14 (22) | n/a |
| VO2 (% of predicted VO2) | 27 | 22 | n/a |
| Power (W) | 35 (21) | 53 (27) | n/a |
| AT | |||
| ATVO2 (ml/min per kg) | 6 | 10 | n/a |
| ATVO2 (% of predicted peak VO2) | 20 | 16 | n/a |
| ATVO2 (% of recorded peak VO2) | 75 | 74 | n/a |
| 31P-MRS | [14] | ||
| End exercise data | |||
| t1/2 PCr | 52.5 | n/a | 29.2 ± 3.1 |
| t1/2 ADP | 31.4 | n/a | 20 ± 1 |
| Respiratory chain complex activities | Biopsy 1 Biopsy 2 | Biopsy | Controls (n=25) |
| CI/CS | 0.018 0.009 | 0.001 | 0.104 ± 0.036 |
| CII/CS | 0.092 0.127 | 0.070 | 0.145 ± 0.047 |
| CIII/CS | 0.673 1.790 | 0.634 | 0.554 ± 0.345 |
| CIV/CS | 0.834 1.394 | 1.216 | 1.124 ± 0.511 |