Cytochrome c Oxidase Deficiency
Electron Transport Chain Enzymes
Leigh Syndrome due to Cytochrome c Oxidase Deficiency
Mitochondrial Respiratory Chain Complex I Deficiency (mitochondrial genes)
Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes)
Mitochondrial Respiratory Chain Complex I Deficiency
Mitochondrial Respiratory Chain Enzymes
Respiratory Chain Complexes
3 T-25 flasks(s) filled to neck with culture media. Maintain sterility and forward promptly at ambient temperature.
Complete and submit with specimen:
1. Baylor Mitochondrial request form.
|Specimen Type||Temperature||Time||Special Container|
A final report will be attached in Mayo Access.
Kirby DM, Thorburn DR, Turnbull DM, Taylor RW. Biochemical assays of respiratory chain complex activity. Methods Cell Biol, 2007; 80:93-119.
Trounce, I.A., Kim, Y.L., Jun, A.S., Wallace, D.C. Assessment of mitochondrial oxidative phosphorylation in patients muscle biopsies, lymphoblasts and transmitochondrial cell lines. Methods Enzymol, 1996. 264, 484-509.
Gellerich, F.N. et al. (2004) The problem of interlab variation in methods mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes. Mitochondrion 4, (427-439)
Enns, G.M. et al. (2005) ReIatonship of primary mitochondrial respiratory chain· dysfunction to fiber type abnormalities in skeletal muscle. Clin. Genet. 66: 337-346. Bernier, FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DR (2002) diagnostic criteria for respiratory chain disorders in adults and children. Neurology 59, 1406-11.
Walker UA, Collins S, Byrne E (1996) Respiratory chain encephalomyopathies: a diagnostic classification. Eur Neurol 36, 260-267.
The electron transport chain enzymes were assayed at 30 C using a temperature-controlled spectrophotometer. Each assay is performed in duplicate. The activities of complex I (NADH:Ferricyanide dehydrogenase), complex II (succinate- dehydrogenase), complex I+III (NADH:cytochrome c oxidoreductase), complex II+III (succinate:cytochrome c reductase) and complex IV (cytochrome c oxidase) were measured using different electron acceptors/donors. The increase or decrease of cytochrome c at 550 nm was measured for complex I+III, II+III, or complex IV. The activity of complex I was measured-by following the oxidation of NADH at 340 nm. For complex II, the reduction of 2, 6-dichloroindophenol (DCIP) at 600 nm was measured. Citrate synthase is used as a marker for mitochondrial content. Enzyme activities are normalized against citrate synthase (CS) activity when CS activity is greater than 1 standard deviation above or below the control mean. The second figures in parentheses represent data after normalization if it has been performed. The interpretation of the results is done on the assumption that the specimen has been handled properly.
84311 x 6
82657 x 6
|Test Id||Test Order Name||Order LOINC Value|
|FETCE||Electron Transport Chain Enzymes||Not Provided|
|Result Id||Test Result Name||
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|Z1751||Electron Transport Chain Enzymes||Not Provided|