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HelpTest Code FETCE Mitochondrial Respiratory Chain Enzyme Analysis (ETC) - Skin Fibroblasts
Reporting Name
Electron Transport Chain EnzymesPerforming Laboratory
Baylor Medical Genetics LaboratoriesSpecimen Type
FibroblastsSpecimen Required
Cultured Fibroblasts
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 Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Fibroblasts | Ambient | |
Reference Values
A final report will be attached in Mayo Access.
Day(s) Performed
Upon receipt
CPT Code Information
84311 x 6
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| FETCE | Electron Transport Chain Enzymes | Not Provided |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| Z1751 | Electron Transport Chain Enzymes | Not Provided |
Method Description
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.
Report Available
42 to 45 daysReject Due To
| Hemolysis | NA |
| Lipemia | NA |
| Icterus | NA |
| Other | NA |
Method Name
Spectrophotometric
Secondary ID
91844Clinical Reference
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.