Biochemical analyses
Biochemical analyses of defects of mitochondrial energy metabolism involve two steps:
1. Screening of mitochondrial energy metabolism of intact mitochondria
Methods: Respirometry with permeabilized muscle fibres as well as radiochemical assay to determine substrate oxidation in native muscle homogenates
Specimen: at least 30 mg native, unfrozen muscle tissue
Shipment: Send specimen in a special MITO-shipping buffer provided by our laboratory at 0°C on water/ice mixture in a thermally isolated container (see also Shipping instructions)
2. Measurement of individual enzymes of mitochondrial energy metabolism
Specimen: at least 20 mg muscle tissue or fibroblast culture
Shipment: Send collected tissue on dry ice in a thermally isolated container (see also Shipping instructions)
If screening of mitochondrial energy metabolism is also requested, submission of additional tissue is not necessary.
Nomenclature of enzymes investigated in mitochondrial energy metabolism
| Short term | Enzyme-energy metabolism |
| PDHC | pyruvate dehydrogenase complex |
| complex I | NADH-ubiquinone oxidoreductase |
| complex I+III | NADH-cytochrome c oxidoreductase |
| complex II | succinate-ubiquinone oxidoreductase |
| complex II+III | succinate-cytochrome c oxidoreductase |
| complex III | ubiquinone-cytochrome c oxidoreductase |
| complex IV | cytochrome c oxidase |
| complex V | ATPase, oligomycin-sensitive |
| citrate synthase | reference enzyme for energy metabolism |
