Enzymological investigations in skeletal muscle and cultured skin fibroblasts of Leigh disease patients
| Skeletal muscle | Cultured skin fibroblasts | |||||||
|---|---|---|---|---|---|---|---|---|
| Patient 1 | Patient 2 | Patient 3 | Control (n=20) | Patient 1 | Control | |||
| RM | SM | RM | SM | |||||
| The ratio values are presented as mean (1 SD). Abnormal values are in bold. Mal: malate; Pyr: pyruvate; Succ: succinate; CI to V: complex I to V; RM: regular medium; SM: selective medium. | ||||||||
| Activity (nmol/min/mg prot) | ||||||||
| Pyruvate oxidation | 15 | 30 | 15 | 24–94 | ||||
| Malate oxidation | – | 30 | – | 23–90 | 3.4 | 10.1 | 7.2 | 7.4 |
| Succinate oxidation | 55 | 93 | 42 | 42–183 | 10.1 | 16.3 | 10.6 | 10.0 |
| CI | 14 | 54 | 25 | 47–182 | 8 | 16 | 9 | 16 |
| CII | 51 | – | 99 | |||||
| CIII | 592 | 1383 | 891 | 421–1654 | ||||
| CIV | 473 | 1259 | 961 | 412–1302 | ||||
| CV | – | – | – | – | 66 | 73 | 46 | 59 |
| CI+III | – | 248 | 77 | 138–549 | ||||
| CII+CIII | 153 | 370 | 275 | 124–514 | ||||
| Activity ratios (mean (1 SD)) | ||||||||
| CIV/CI+III | – | 5.1 | 12.4 | 3.7 (0.5) | ||||
| CIV/CII+III | 3.1 | 3.4 | 3.5 | 3.3 (0.4) | ||||
| CV/CI | 8 | 4.6 | 5.1 | 3.7 | ||||
| Succ/pyr oxidation | 3.7 | 3.1 | 2.9 | 1.9 (0.2) | ||||
| Succ/mal oxidation | – | 3.1 | – | 2.0 (0.2) | 3 | 1.4 | 1.5 | 1.4 |