Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt

Biochemical Journal

Volumn 342, Issue 3, 1999, Pages 537-544

  Antonická, Hana ^a,b   Floryk, Daniel ^a,b   Klement, Petr ^a,b   Stratilová, Leona ^b   Heřmanská, Jana ^a   Houšťková, Hana ^b   Kalous, Martin ^a   Drahota, Zdeněk ^a   Zeman, Jiří ^b   Houštěk, Josef ^a  

^a INSTITUTE OF PHYSIOLOGY   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Cytofluorimetry; Mitochondrial diseases; OXPHOS (oxidative phosphorylation); TMRM (tetramethylrhodamine methyl ester)

Indexed keywords

ADENOSINE TRIPHOSPHATE; CYTOCHROME C OXIDASE; DIGITONIN; LYSINE TRANSFER RNA; MITOCHONDRIAL DNA; RHODAMINE;

ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME KINETICS; FIBROBLAST; FLOW CYTOMETRY; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYBRID CELL; INFANT; MALE; MEMBRANE POTENTIAL; MITOCHONDRIAL MEMBRANE; MYOCLONUS EPILEPSY; PRIORITY JOURNAL;

ADENOSINE TRIPHOSPHATE; CELL SEPARATION; ELECTRON TRANSPORT COMPLEX IV; FIBROBLASTS; FLOW CYTOMETRY; HUMANS; INTRACELLULAR MEMBRANES; KINETICS; MEMBRANE POTENTIALS; MERRF SYNDROME; MUTATION; OXIDATIVE PHOSPHORYLATION; SPECTROMETRY, FLUORESCENCE;

EID: 0033568447     PISSN: 02646021     EISSN: None     Source Type: Journal    
DOI: 10.1042/0264-6021:3420537     Document Type: Article

References (54)

1. Shoffner, J. M., Lott, M. T., Lezza, A. M. S., Seibel, P., Ballinger, S. W. and Wallace, D. C. (1990) Cell 61, 931-937
2. Noer, A. S., Sudoyo, H., Lertrit, P., Thyagarajan, D., Utthanaphol, P., Kapsa, R., Byrne, E. and Marzuki, S. (1991) Am. J. Hum. Genet. 49, 715-722
3. Silvestri, G., Moraes, C. T., Shanske, S., Oh, S. J. and DiMauro, S. (1992) Am. J. Hum. Genet. 51, 1213-1217
4. Zeviani, M., Muntoni, F., Savarese, N., Serra, G., Tiranti, V., Carrara, F., Mariotti, C. and DiDonato, S. (1993) Eur. J. Hum. Genet. 1, 80-87
5. Ozawa, M., Nishino, I., Horai, S., Nonaka, I. and Goto, Y. I. (1997) Muscle Nerve 20, 271-278
6. Fabrizi, G. M., Cardaioli, E., Grieco, G. S., Cavallaro, T., Malandrini, A., Manneschi, L., Dotti, M. T., Federico, A. and Guazzi, G. (1996) J. Neurol. Neurosurg. Psychiatry 61, 47-51
7. Boulet, L., Karpati, G. and Shoubridge, E. A. (1992) Am. J. Hum. Genet. 51, 1187-1200
8. Seibel, P., Degoul, F., Romero, N., Marsac, C. and Kadenbach, B. (1990) Biochem. Biophys. Res. Commun. 173, 561-565
9. Zeviani, M., Amati, P., Bresolin, N., Antozzi, C., Piccolo, G., Toscano, A. and DiDonato, S. (1991) Am. J. Hum. Genet. 48, 203-211
10. Shin, K. D., Yen, T. C., Pang, C. Y. and Wei, Y. H. (1991) Biochem. Biophys. Res. Commun. 174, 1109-1116
11. Hammans, S. R., Sweeney, M. G., Brockington, M., Morgan Hughes, J. A. and Harding, A. E. (1991) Lancet 337, 1311-1313
12. Hammans, S. R., Sweeney, M. G., Brockington, M., Lennox, G. G., Lawton, N. F., Kennedy, C. R., Morgan Hughes, J. A. and Harding, A. E. (1993) Brain 116, 617-632
13. Piccolo, G., Focher, F., Verri, A., Spadari, S., Banti, P., Gerosa, E. and Mazzarello, P. (1993) Acta Neurol. Scand. 88, 406-409
14. Fang, W., Huang, C. C., Chu, N. S., Lee, C. C., Chen, R. S., Pang, C. Y., Shin, K. D. and Wei, Y. H. (1994) Muscle Nerve 17, 52-57
15. Arpa, J., Campos, Y., Gutierrez-Molina, M., Martin-Casanueva, M. A., Cruz-Martinez, A., Perez-Conde, M. C., Lopez-Pajares, R., Morales, M. C., Tatay, J., Lacasa, T. et al. (1997) Acta Neurol. Scand. 96, 65-71
16. Chomyn, A., Meola, G., Bresolin, N., Lai, S. T., Scarlato, G. and Attardi, G. (1991) Mol. Cell Biol. 11, 2236-2244
17. King, M. P. and Attardi, G. (1989) Science 246, 500-503
18. James, A. M., Wei, Y. H., Pang, C. Y. and Murphy, M. P. (1996) Biochem. J. 318, 401-407
19. Larsson, N. G., Tulinius, M. H., Holme, E., Oldfors, A., Andersen, O., Wahlstrom, J. and Aasly, J. (1992) Am. J. Hum. Genet. 51, 1201-1212
20. Yoneda, M., Miyatake, T. and Attardi, G. (1994) Mol. Cell Biol. 14, 2699-2712
21. Chinnery, P. F., Howell, N., Lightowlers, R. N. and Turnbull, D. M. (1997) Brain 120, 1713-1721
22. Enriguez, J. A., Chomyn, A. and Attardi, G. (1995) Nat. Genet. 10, 47-55
23. Attardi, G., Yoneda, M. and Chomyn, A. (1995) Biochim. Biophys. Acta 1271, 241-248
24. Chomyn, A. (1998) Am. J. Hum. Genet. 62, 745-751
25. Tiranti, V., Munaro, M., Sandona, D., Lamantea, E., Rimoldi, M., DiDonato, S., Bisson, R. and Zeviani, M. (1995) Hum. Mol. Genet 4, 2017-2023
26. Klement, P., Nijtmans, L. G. J., Van den Bogert, C. and Houstek, J. (1995) Anal. Biochem. 231, 218-224
27. Schagger, H. and von Jagow, G. (1991) Anal. Biochem. 199, 223-231
28. Schagger, H. and von Jagow, G. (1987) Anal. Biochem. 166, 368-379
29. Bjerrum, O. L. and Schafer-Nielsen, C. (1986) in Electrophoresis, vol. 86 (Dunn, M. J., ed.), pp. 315-327, Verlag Chemie, Weinheim
30. Houstek, J., Kopecky, J., Zanotti, F., Guerrieri, F., Jirillo, E., Capozza, G. and Papa, S. (1988) Eur. J. Biochem. 173, 1-8
31. Houstek, J., Vizek, K., Pavelka, S., Kopecky, J., Krejcova, E., Hermanska, J. and Cermakova, M. (1993) J. Clin. Endocrinol. Metab. 77, 382-387
32. Nijtmans, L. G. J., Klement, P., Houstek, J. and Van den Bogert, C. (1995) Biochim. Biophys. Acta 1272, 190-198
33. Spelbrink, J. N., van Oost, B. A. and Van den Bogert, C. (1994) Hum. Mol. Genet. 3, 1989-1997
34. Morrissey, J. H. (1981) Anal. Biochem. 117, 307-310
35. Wanders, R. J. and van Roermund, C. W. (1993) Biochim. Biophys. Acta 1167, 345-350
36. Williamson, J. R. and Corkey, B. E. (1969) Methods Enzymol. 13, 434-513
37. Sambrook, J., Fritsch, E. F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual, 2nd edn., Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
38. Wharton, D. C. and Tzagoloff, A. (1967) Methods Enzymol. 10, 245-253
39. Fischer, J. C., Ruitenbeek, W., Trijbels, J. M. F., Veerkamp, J. H., Stadhouders, A. M., Sengers, R. C. A. and Janssen, A. J. M. (1985) Clin. Chim. Acta 153, 37-42
40. Baracca, A., Curatola, G., Parenti Castelli, G. and Solaini, G. (1986) Biochem. Biophys. Res. Commun. 136, 891-898
41. Srere, P. A. (1969) Methods Enzymol. 13, 3-26
42. Sperl, W., Ruitenbeek, W., Kerkhof, C. M. C., Sengers, R. C. A., Trijbels, J. M. F., Guggenbichler, J. P., Janssen, A. J. M. and Bakkeren, J. A. J. M. (1990) Eur. J. Pediatr. 149, 487-492
43. Teodosiu, D. C., Cederblad, G. and Hultman, E. (1991) Anal. Biochem. 198, 347-351
44. Bradford, M. M. (1976) Anal. Biochem. 72, 248-254
45. Lowry, O. H., Rosebrough, N. J., Farr, A. L. and Randall, R. J. (1951) J. Biol. Chem. 193, 265-275
46. Tiranti, V., Chariot, P., Carella, F., Toscano, A., Soliveri, P., Girlanda, P., Carrara, F., Fratta, G. M., Reid, F. M., Mariotti, C. and Zeviani, M. (1995) Hum. Mol. Genet. 4, 1421-1427
47. Villani, G. and Attardi, G. (1997) Proc. Natl. Acad. Sci. U.S.A. 94, 1166-1171
48. Lombes, A., Nakase, H., Tritschler, H. J., Kadenbach, B., Bonilla, E., DeVivo, D. C., Schon, E. A. and DiMauro, S. (1991) Neurology 41, 491-498
49. Glerum, D. M., Yanamura, W., Capaldi, R. A. and Robinson, B. H. (1988) FEBS Lett.. 236, 100-104
50. Nijtmans, L. G., Barth, P. G., Lincke, C. R., Van Galen, M. J., Zwart, R., Klement, P., Bolhuis, P. A., Ruitenbeek, W., Wanders, R. J. and Van den Bogert, C. (1995) Biochim. Biophys. Acta 1270, 193-201
51. Hayashi, J., Ohta, S., Kikuchi, A., Takemitsu, M., Goto, Y. and Nonaka, I. (1991) Proc. Natl. Acad. Sci. U.S.A. 88, 10614-10618
52. Masucci, J. P., Davidson, M., Koga, Y., Schon, E. and King, M. P. (1995) Mol. Cell Biol. 15, 2872-2881
53. Chomyn, A., Lai, S. T., Shakeley, R., Bresolin, N., Scarlato, G. and Attardi, G. (1994) Am. J. Hum. Genet. 54, 966-974
54. Schon, E. A., Bonilla, E. and DiMauro, S. (1997) J. Bioenerg. Biomembr. 29, 131-149