MtDNA mutations associated with sideroblastic anaemia cause a defect of mitochondrial cytochrome c oxidase

European Journal of Biochemistry

Volumn 258, Issue 1, 1998, Pages 132-138

  Bröker, Sabine ^a   Meunier, Brigitte ^b   Rich, Peter ^b   Gattermann, Norbert ^a   Hofhaus, Götz ^a  

^a HEINRICH HEINE UNIVERSITY   (Germany)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Cytochrome oxidase; Laser flash photolysis; Sideroblastic anaemia; Transmitochondrial cell lines

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA;

ARTICLE; ENZYME ACTIVITY; ENZYME LOCALIZATION; GENE MUTATION; HUMAN; HUMAN CELL; PRIORITY JOURNAL; RESPIRATORY CHAIN; SIDEROBLASTIC ANEMIA;

ANEMIA, SIDEROBLASTIC; CELL LINE; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; HUMANS; KINETICS; MITOCHONDRIA; MUTATION; RECOMBINATION, GENETIC;

EID: 0032533927     PISSN: 00142956     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1432-1327.1998.2580132.x     Document Type: Article

References (22)

1. Gattermann, N., Aul, C. & Schneider, W. (1993) Is acquired idiopathic sideroblastic anemia (AISA) a disorder of mitochondrial DNA? Leukemia 7, 2069-2076.
2. Grasso, J. A., Myers, T. J., Hines, J. D. & Sullivan, A. L. (1980) Energy-dispersive X-ray analysis of the mitochondria of sidero-blastic anaemia, Br. J. Haematol. 46, 57-72.
3. Porra, R. J. & Jones, O. T. G. (1963) Studies on ferrochelatase, Biochem. J. 87, 181-187.
4. Flatmark, T. & Romslo, I. (1975) Energy-dependent accumulation of iron by isolated rat liver mitochondria. Requirement of reducing equivalents and evidence for a unidirectional flux of Fe(II) across the inner membrane, J. Biol. Chem. 250, 6433-6438.
5. Gattermann, N., Lotz, H., Aul, C. & Schneider, W. (1992) No large deletions of mitochondrial DNA in acquired idiopathic sideroblastic anemia (AISA) [letter; comment], Am. J. Hematol. 41, 297.
6. Gattermann, N., Retzlaff, S., Wang, Y. L., Berneburg, M., Heinisch, J., Wlaschek, M., Aul, C. & Schneider, W. (1996) A heteroplasmic point mutation of mitochondrial tRNALeu(CUN) in non-lymphoid haemopoietic cell lineages from a patient with acquired idiopathic sideroblastic anaemia, Br. J. Haematol. 93, 845-855.
7. Gattermann, N., Retzlaff, S., Wang, Y. L., Hofhaus, G., Aul, C. & Schneider, W. (1997) Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia, Blood 90, 4961-4972.
8. King, M. P. & Attardi, G. (1989) Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation, Science 246, 500-503.
9. Chomyn, A. (1996) Platelet-mediated transformation of human mitochondrial DNA-less cells. Methods Enzymol. 264, 334-339.
10. Skehan, P., Storeng, R., Scudiero, D., Monks, A., McMahon, J., Vistica, D., Warren, J. T., Bokesch, H., Kenny, S. & Boyd, M. R. (1990) New colorimetric cytotoxicity assay for anticancer-drug screening, J. Natl Cancer. Inst. 82, 1107-1112.
11. Hofhaus, G., Shakeley, R. M. & Attardi, G. (1996) Use of polarography to detect respiration defects in cell cultures, Methods Enzymol. 264, 476-483.
12. Brown, S., Colson, A. M., Meunier, B. & Rich, P. R. (1993) Rapid screening of cytochromes of respiratory mutants of Saccharomyces cerevisiae. Application to the selection of strains containing novel forms of cytochrome-c oxidase, Eur. J. Biochem. 213, 137-145.
13. Rich, P. R. & Moody, A. J. (1997) in Principles and practice. Bioelectronics (Gräber, G., ed.) pp. 419-456, Birkhäuser Verlag AG, Basel.
14. Robinson, B. H., Petrova Benedict, R., Buncic, J. R. & Wallace, D. C. (1992) Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts, Biochem. Med. Metab. Biol. 48, 122-126.
15. Hofhaus, G., Johns, D. R., Hurko, O., Attardi, G. & Chomyn, A. (1996) Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy, J. Biol. Chem. 271, 13155-13161.
16. Gibson, Q. H. & Greenwood, C. (1963) Reactions of cytochrome oxidase with oxygen and carbon monoxide, Biochem. J. 86, 541-554.
17. Poole, R. K., Waring, A. J. & Chance, B. (1979) Evidence for a functional oxygen-bound intermediate in the reaction of Escherichia coli cytochrome o with oxygen, FEBS Lett. 101, 56-58.
18. Brown, S., Rumbley, J. N., Moody, A. J., Thomas, J. W., Gennis, R. B. & Rich, P. R. (1994) Flash photolysis of the carbon monoxide compounds of wild-type and mutant variants of cytochrome bo from Escherichia coli, Biochim. Biophys. Acta 1183, 521-532.
19. Meunier, B. & Rich, P. R. (1998) Quantitation and characterisation of cytochrome c oxidase in complex systems, Anal. Biochem. 260(2), 237-243.
20. Ortwein, C., Link, T. A., Meunier, B., Colson, A., Rich, P. R. & Brandt, U. (1997) Structural and functional analysis of deficient mutants in subunit I of cytochrome c oxidase from saccharomyces cerevisiae, Biochim. Biophys. Acta 1321, 79-92.
21. Iwata, S., Ostermeier, C., Ludwig, B. & Michel, H. (1995) Structure at 2.8 Å resolution of cytochrome c oxidase from Paracoccus denitrificans, Nature 376, 660-669.
22. Tsukihara, T., Aoyama, H., Yamashita, E., Tomizaki. T., Yamaguchi, H., Shinzawa Itoh, K., Nakashima, R., Yaono, R. & Yoshikawa, S. (1996) The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 A [see comments], Science 272, 1136-1144.