Activities of mitochondrial oxidative phosphorylation enzymes in cultured amniocytes

Clinica Chimica Acta

Volumn 298, Issue 1-2, 2000, Pages 157-173

  Chowdhury, S K R ^a,b   Drahota, Z ^a   Floryk, D ^a,b   Calda, P ^b   Houstek J ^a,b  

^a INSTITUTE OF PHYSIOLOGY   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Amniocytes; Mitochondrial membrane potential; Oxidative phosphorylation; Prenatal diagnosis; Respiratory chain enzymes; TMRM cytofluorometry

Indexed keywords

ADENOSINE DIPHOSPHATE; ANTIMYCIN A1; CITRATE SYNTHASE; CYTOCHROME C; CYTOCHROME C OXIDASE; DIGITONIN; GLYCEROL 3 PHOSPHATE DEHYDROGENASE; MALIC ACID; MITOCHONDRIAL ENZYME; POTASSIUM CYANIDE; PYRUVIC ACID; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RHODAMINE; ROTENONE; SUCCINATE DEHYDROGENASE; SUCCINIC ACID; TETRAMETHYL RHODAMINE METHYL ESTER; UNCLASSIFIED DRUG;

AMNION CELL; ANALYTIC METHOD; ANIMAL TISSUE; ARTICLE; CELL CULTURE; CONTROLLED STUDY; CYTOFLUOROMETRY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; FETUS CELL; HUMAN; HUMAN CELL; INTERMETHOD COMPARISON; MALE; MEMBRANE PERMEABILITY; MEMBRANE POTENTIAL; MITOCHONDRIAL MEMBRANE; MITOCHONDRIAL RESPIRATION; NONHUMAN; OXIDATIVE PHOSPHORYLATION; OXYGEN CONSUMPTION; POLAROGRAPHY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RAT; SPECTROPHOTOMETRY;

ADENOSINE DIPHOSPHATE; AMNIOTIC FLUID; CELL MEMBRANE PERMEABILITY; CELLS, CULTURED; CITRATE (SI)-SYNTHASE; CYTOCHROME C GROUP; ELECTRON TRANSPORT COMPLEX III; ELECTRON TRANSPORT COMPLEX IV; FEMALE; FLUOROMETRY; HUMANS; MITOCHONDRIA; NADH DEHYDROGENASE; OXIDATIVE PHOSPHORYLATION; OXYGEN CONSUMPTION; POLAROGRAPHY; POTASSIUM CYANIDE; PREGNANCY; SPECTROPHOTOMETRY; SUCCINATE CYTOCHROME C OXIDOREDUCTASE;

EID: 0034256989     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(00)00300-4     Document Type: Article

References (33)

1. Schon E.A., Bonilla E., DiMauro S. Mitochondrial DNA mutations and pathogenesis. J Bioenerg Biomembr. 29:1997;131-149.
2. Harding A.E., Hammans S.R. Deletions of the mitochondrial genome. J Inherit Metab Dis. 15:1992;480-486.
3. Bourgeron T., Rustin P., Chretien D., et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet. 11:1995;144-149.
4. Schuelke M., Smeitink J., Mariman E., et al. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nat Genet. 21:1999;260-261.
5. Loeffen J., Smeitink J., Triepels R., et al. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet. 63:1998;1598-1608.
6. Loeffen J., Smeets R., Smeitink J., et al. The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection. J Inherit Metab Dis. 21:1998;210-215.
7. Zhu Z., Yao J., Johns T., et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet. 20:1998;337-343.
8. Tiranti V., Hoertnagel K., Carrozzo R., et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet. 63:1998;1609-1621.
9. Papadopoulou L.C., Sue C.M., Davidson M.M., et al. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet. 23:1999;333-337.
10. Houstek J., Klement P., Floryk D., et al. A novel deficiency of mitochondrial ATPase of nuclear origin. Hum Mol Genet. 8:1999;1967-1974.
11. Wanders R.J., Van Roermund C.W. Studies on phytanic acid alpha-oxidation in rat liver and cultured human skin fibroblasts. Biochim Biophys Acta. 1167:1993;345-350.
12. Ruitenbeek W., Sengers R.C., Trijbels J.M., et al. The use of chorionic villi in prenatal diagnosis of mitochondriopathies. J Inherit Metab Dis. 15:1992;303-306.
13. Merante F., Petrova-Benedict R., MacKay N., et al. A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec. Am J Hum Genet. 53:1993;481-487.
14. Ruitenbeek W., Wendel U., Hamel B.C., et al. Genetic councelling and prenatal diagnosis in disorders of the mitochondrial energy metabolism. J Inherit Metab Dis. 19:1996;581-587.
15. Wanders R.J.A., Ruiter J.P.N., Wijburg F.A., et al. Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibroblasts by study of ATP-synthesis in digitonin-permeabilized cells. J Inherit Metab Dis. 19:1996;133-136.
16. Triepels R., Smeitink J., Loeffen J., et al. The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology [In Process Citation]. J Inherit Metab Dis. 22:1999;163-173.
17. Villani G., Attardi G. In vivo control of respiration by cytochrome c oxidase in wild-type and mitochondrial DNA mutation-carrying human cells. Proc Natl Acad Sci USA. 94:1997;1166-1171.
18. Bradford M.M. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein dye binding. Anal Biochem. 72:1976;248-254.
19. Wharton D.C., Tzagoloff A. Cytochrome oxidase from beef heart mitochondria. Methods Enzymol. 10:1967;245-253.
20. Rustin P., Chretien D., Bourgeron T., et al. Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta. 228:1994;35-51.
21. Srere P.A. Citrate synthase. Methods Enzymol. 13:1969;3-26.
22. Floryk D., Houstek J. Tetramethyl rhodamine methyl ester (TMRM) is suitable for cytofluorometric measurements of mitochondrial membrane potential in cells treated with digitonin. Biosci Rep. 19:1999;27-34.
23. Zimmermann P., Kadenbach B. Modified structure and kinetics of cytochrome c oxidase in fibroblasts from patients with Leigh syndrome. Biochim Biophys Acta. 1180:1992;99-106.
24. Van Kuilenburg A.B., Dekker H.L., Van den Bogert C., et al. Isoforms of human cytochrome-c oxidase. Subunit composition and steady-state kinetic properties. Eur J Biochem. 199:1991;615-622.
25. Mahapatro S.N., Robinson N.C. Effect of changing the detergent bound to bovine cytochrome c oxidase upon its individual electron-transfer steps. Biochemistry. 29:1990;764-770.
26. Kadenbach B. Evolution of a regulatory enzyme: cytochrome c oxidase (Complex IV). Curr Top Bioenerg. 15:1987;113-161.
27. Robinson N.C. Interaction of detergents with cytochrome c oxidase. Biochemistry. 16:1977;375-381.
28. Yonetani T.C.S., Kaplan N.O. Cytochrome c oxidase, beef heart. Methods Enzymol. 10:1967;332-335.
29. Schneider W.C., Potter V.R. The assay of animal tissues for respiratory enzymes. J Biol Chem. 149:1943;217-227.
30. Gnaiger E.K.A., Lassing B., Fuchs A., et al. High-resolution respirometry-optimum permeabilization of the cell membrane by digitonin. Larsson C., Pahlman I.-L., Gustafsson L., Modern Trends in Bio ThermoKinetics in the Post Genomic Era. 1998;1-4 Chalmers Reproservice, Göteborg.
31. Moraes C.T., Schon E.A., DiMauro S., et al. Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome. Biochem Biophys Res Commun. 160:1989;765-771.
32. Durrieu G., Letellier T., Antoch J., et al. Identification of mitochondrial deficiency using principal component analysis. Mol Cell Biochem. 74:1997;149-156.
33. Antonicka H., Floryk D., Klement P., et al. Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic cells with the mutation for myoclonus epilepsy with ragged-red fibres (`MERRF') at position 8344 nt. Biochem J. 342:1999;537-544.