Abstract
The clinical and biochemical findings of 14 patients with an isolated defect of thebc 1 complex have been summarized. The heterogeneity of this group of disorders reflects the severity and tissue specific expression of the defect and the complexity of this multisubunit protein with components that are coded on both nuclear and mitochondrial DNA. The data on several patients with a combined defect of cytochrome oxidase and thebc 1 complex or with multiple respiratory chain defects have also been presented and discussed in relation to our knowledge of the biosynthesis and assembly of the respiratory chain complexes. The severity of the defectin vivo is illustrated in one patient with isolated complex III deficiency by measurement of O2 consumption and CO2 production following exercise, or by31P-NMR. The latter also provides a means by which response to therapy can be followed.
Similar content being viewed by others
References
Allen, R. J., DiMauro, S., Coulter, D. L., Papadimitriou, A., and Rothenberg, S. P. (1983).Anal. Neurol. 13, 679–682
Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J. H., Staden, R., and Young, I. G. (1981).Nature (London) 290, 457–465.
Angelini, C. (1984). InNeuromuscular Diseases (Serratrice, G.et al., eds.), Raven Press, New York, pp. 87–94.
Aprille, J. R. (1985). InAchievements and Perspectives of Mitochondrial Research, Vol. II:Biogenesis (Quagliariello, E.,et al., eds.), Elsevier, Amsterdam, pp. 465–476.
Argov, Z., Bank, W. J., Maris, J., Eleff, S., Kennaway, N. G., Olson, R. E., and Chance, B. (1986).Ann. Neurol. 19, 598–602.
Barth, P. G., Scholte, H. R., Berden, J. A., Van der Klei-Van Moorsel, J. M., Luyt-Houwen, I. E. M., Van'T Veer-Korthof, E. Th., Van Der Harten, J. J., and Sobotka-Plojhar, M. A. (1983).J. Neurol. Sci. 62, 327–355.
Behbehani, A. W., Goebel, H., Osse, G., Gabriel, M., Langenbeck, U., Berden, J., Berger, R., and Schutgens, R. B. H. (1984).Eur. J. Pediatr. 143, 67–71.
Berenberg, R. A., Pellock, J. M., DiMauro, S., Schotland, D. L., Bonilla, E., Eastwood, A., Hays, A., Vicale, C. T., Behrens, M., Chutorian, A., and Rowland, L. P. (1977).Anal. Neurol 1, 37–54.
Bookelman, H., Trijbels, J. M. F., Sengers, R. C. A., and Janssen, A. J. M. (1978a).Biochem. Med. 19, 366–373.
Bookelman, J., Trijbels, J. M. F., Sengers, R. C. A., Janssen, A. J. M., Veerkamp, J. H., and Stadhouders, A. M. (1978b).Biochem. Med. 20, 395–403.
Bresolin, N., Zeviani, M., Bonilla, E., Miller, R. H., Leech, R. W., Shanske, S., Nakagawa, M., and DiMauro, S. (1985).Neurology 35, 802–812.
Chance, B., Leigh, J. S., Smith, D. S., Nioka, S., and Clark, B. J. (1986).Ann N.Y. Acad. Sci. 488, 140–153.
Chomyn, A., Mariottini, P., Cleeter, M. W. J., Ragan, C. I., Doolittle, R. F., Yagi, A. M., Hatefi, Y., and Attardi, G. (1985). InAchievements and Perspectives of Mitochondrial Research, Vol. II:Biogenesis (Quagliariello, E.et al., eds.), Elsevier, Amsterdam, pp. 259–275.
Clark, J. B., Hayes, D. J., Byrne, E., and Morgan-Hughes, J. A. (1983).Biochem. Soc. Trans. 11, 626–627.
Clayton, D. A. (1984).Annu. Rev. Biochem. 53, 573–594.
Darley-Usmar, V. M., Kennaway, N. G., Buist, N. R. M., and Capaldi, R. A. (1983).Proc. Natl. Acad. Sci. USA 80, 5103–5106.
Darley-Usmar, V. M., Watanabe, M., Uchiyama, Y., Kondo, I., Kennaway, N. G., Gronke, L., and Hamaguchi, H. (1986).Clin. Chim. Acta 158, 253–261.
Dieckmann, C. L., and Tzagoloff, A. (1985).J. Biol. Chem. 260, 1513–1520.
Dieckmann, C. L., Pape, L. K., and Tzagoloff, A. (1982).Proc. Natl. Acad. Sci. USA 79, 1805–1809.
DiMauro, S., Mendell, J. R., Sahenk, Z., Bachman, D., Scarpa, A., Scofield, R. M., and Reiner, C. (1980).Neurology 30, 795–804.
DiMauro, S., Bonilla, E., Zeviani, M., Nakagawa, M., and DeVivo, D. C. (1985).Ann. Neurol. 17, 521–538.
Eleff, S., Kennaway, N. G., Buist, N. R. M., Darley-Usmar, V. M., Capaldi, R. A., Bank, W. J., and Chance, B. (1984).Proc. Natl. Acad. Sci. USA 81, 3529–3533.
Fischer, J. C., Ruitenbeek, W., Berden, J. A., Trijbels, J. M. F., Veerkamp, J. H., Stadhouders, A. M., Sengers, R. C. A., and Janssen, A. J. M. (1985).Clin. Chim. Acta 153, 23–36.
Fischer, J. C., Ruitenbeek, W., Gabreëls, F. J. M., Janssen, A. J. M., Renier, W. O., Sengers, R. C. A., Stadhouders, A. M., ter Laak, H. J., Trijbels, J. M. F., and Veerkamp, J. H. (1986).Eur. J. Pediatr. 144, 441–444.
Fukuhara, N., Tokiguchi, S., Shirakawa, K., and Tsubaki, T. (1980).J. Neurol. Sci. 47, 117–133.
Gabreëls, F. J. M., Prick, M. J. J., Trijbels, J. M. F., Renier, W. O., Jaspar, H. H. J., Janssen, A. J. M., and Slooff, J. L. (1984).Acta Neurol. Scand. 70, 145–154.
Giles, R. E., Blanc, H., Cann, H. M., and Wallace, D. C. (1980).Proc. Natl. Acad. Sci. USA 77, 6715–6719.
Goldfischer, S., Moore, C. L., Johnson, A. B., Spiro, A. J., Valsamis, M. P., Wisniewski, H. K., Ritch, R. H., Norton, W. T., Rapin, I., and Gartner, L. M. (1973).Science 182, 62–64.
Hayes, D. J., Lecky, B. R. F., Landon, D. N., Morgan-Hughes, J. A., and Clark, J. B. (1984).Brain 107, 1165–1177.
Holt, I. J., Harding, A. E., and Morgan-Hughes, J. A. (1988).Nature (London) 331, 717–719.
Kadenbach, B., Hartmann, R., Glanville, R., and Buse, G. (1982).FEBS Lett. 138, 236–238.
Kennaway, N. G., Buist, N. R. M., Darley-Usmar, V. M., Papadimitriou, A., DiMauro, S., Kelley, R. I., Capaldi, R. A., Blank, N. K., and D'Agostino, A. (1984).Pediat. Res. 18, 991–999.
Kennaway, N. G., Wagner, M. L., Capaldi, R. A., Takamiya, S., Yanamura, W., Ruitenbeek, W., Sengers, R. C. A., and Trijbels, J. M. F. (1987).J. Inher. Metab. Dis. 10, Suppl. 2, 247–251.
Kim, S. J., Lee, K. O., Takamiya, S., and Capaldi, R. A. (1987).Biochim. Biophys. Acta 894, 270–276.
Kuhn-Nentwig, L., and Kadenbach, B. (1985).Eur. J. Biochem. 149, 147–158.
Lauquin, G. J. M., Villiers, C., Michejda, J. W., Hryniewiecka, L. V., and Vignais, P. V. (1977).Biochim. Biophys. Acta 460, 331–345.
Lee, C.-P., Sottocasa, G. L., and Ernster, L. (1967).Methods Enzymol. 10, 33–37.
Malczewski, R. M., and Whitfield, C. D. (1984).J. Biol. Chem. 259, 11103–11113.
Mitsumoto, H., Aprille, J. R., Wray, S. H., Nemni, R., and Bradley, W. G. (1983).Neurology 33, 452–461.
Morgan-Hughes, J. A., Darveniza, P., Kahn, S. N., Landon, D. N., Sherratt, R. M., Land, J. M., and Clark, J. B. (1977).Brain 100, 617–640.
Morgan-Hughes, J. A., Hayes, D. J., Clark, J. B., Landon, D. N., Swash, M., Stark, R. J., and Rudge, P. (1982).Brain 105, 533–582.
Morgan-Hughes, J. A., Hayes, D. J., and Clark, J. B. (1984a). InNeuromuscular Diseases (Serratrice, G.et al., eds.), Raven Press, New York, pp. 79–85.
Morgan-Hughes, J. A., Hayes, D. J., Clark, J. B., and Cooper, J. M. (1984b). InBiomedical and Clinical Aspects of Coenzyme Q (Folkers, K., and Yamamura, Y., eds.), Vol. 4, Elsevier, Amsterdam, pp. 417–424.
Morgan-Hughes, J. A., Hayes, D. J., Cooper, M., and Clark, J. B. (1985).Biochem. Soc. Trans. 13, 648–650.
Morgan-Hughes, J. A., Cooper, J. M., Schapira, A. H. V., Hayes, D. J., and Clark, J. B. (1987). InThe London Symposium (EEG Suppl. 39) (Ellingson, R. J.et al., eds.), Elsevier, Amsterdam, pp. 103–114.
Oudshoorn, P., Van Steeg, H., Swinkels, B. W., Schoppink, P., and Grivell, L. A. (1987).Eur. J. Biochem. 163, 97–103.
Papadimitriou, A., Neustein, H. B., DiMauro, S., Stanton, R., and Bresolin, N. (1984).Pediat. Res. 18, 1023–1028.
Pavlakis, S. G., Phillips, P. C., DiMauro, S., DeVivo, D. C., and Rowland, L. P. (1984).Ann. Neurol. 16, 481–488.
Poyton, R. O. (1980).Curr. Top. Cell. Regul. 17, 231–295.
Przyrembel, H. (1987).J. Inher. Metab. Dis. 10, Suppl. 1, 129–146.
Reichmann, H., Rohkamm, R., Zeviani, M., Servidei, S., Ricker, K., and DiMauro, S. (1986).Arch. Neurol. 43, 957–961.
Riggs, J. E., Schochet, S. S. Jr., Fakadej, A. V., Papadimitriou, A., DiMauro, S., Crosby, T. W., Gutmann, L., and Moxley, R. T. (1984).Neurology 34, 48–53.
Rosing, H. S., Hopkins, L. C., Wallace, D. C., Epstein, C. M., and Weidenheim, K. (1985).Ann. Neurol. 17, 228–237.
Schatz, G., and Butow, R. A. (1983).Cell 32, 316–318.
Scholte, H. R., Luyt-Houwen, I. E. M., and Busch, H. F. M. (1985).J. Inher. Metab. Dis. 8, Suppl. 2, 149–150.
Scholte, H. R., Busch, H. F. M., Luyt-Houwen, I. E. M., Vaandrager-Verduin, M. H. M., Przyrembel, H., and Arts, W. F. M. (1987).J. Inher. Metab. Dis. 10, Suppl. 1, 81–97.
Schutgens, R. B. H., Heymans, H. S. A., Wanders, R. J. A., Bosch, H. V. D., and Tager, J. M. (1986).Eur. J. Pediatr. 144, 430–440.
Sen, K., and Beattie, D. S. (1986).Arch. Biochem. Biophys. 251, 239–249.
Sengers, R. C. A., Fischer, J. C., Trijbels, J. M. F., Ruitenbeek, W.,, Stadhouders, A. M., ter Laak, H. J., and Jaspar, H. H. J. (1983).Eur. J. Pediatr. 140, 332–337.
Sengers, R. C. A., Trijbels, J. M. F., Bakkeren, J. A. J. M., Ruitenbeek, W., Fischer, J. C., Janssen, A. J. M., Stadhouders, A. M., and ter Laak, H. J. (1984).Eur. J. Pediatr. 141, 178–180.
Sottocasa, G. L., Kuylenstierna, B., Ernster, L., and Bergstrand, A. (1967).J. Cell Biol. 32, 415–438.
Sperl, W., Ruitenbeek, W., Trijbels, J. M. F., Sengers, R. C. A., Stadhouders, A. M., and Guggenbichler, J. P. (1988).Eur. J. Pediat., in Press.
Spiro, A. J., Moore, C. L., Prineas, J. W., Strasberg, P. M., and Rapin, I. (1970).Arch. Neurol. 23, 103–112.
Stadhouders, A. M., and Sengers, R. C. A. (1987).J. Inher. Metab. Dis. 10, Suppl. 1, 62–80.
Stansbie, D., Dormer, R. L., Hughes, I. A., Minchom, P. E., Hendry, G. A. F., Jones, O. T. G., Cross, A. R., Sherratt, H. S. A., Turnbull, D. M., and Johnson, M. A. (1982).J. Inher. Metab. Dis. 5, Suppl. 1, 27–28.
Takamiya, S., Yanamura, W., Capaldi, R. A., Kennaway, N. G., Bart, R., Sengers, R. C. A., Trijbels, J. M. F., and Ruitenbeek, W. (1986).Ann. N. Y. Acad. Sci. 448, 33–43.
Takamiya, S., Lindorfer, M. A., and Capaldi, R. A. (1987).FEBS Lett. 218, 277–282.
Tanaka, M., Nishikimi, M., Suzuki, H., Ozawa, T., Okino, E., and Takahashi, H. (1986).Biochem. Biophys. Res. Commun. 137, 911–916.
Tanaka, M., Nishikimi, M., Suzuki, H., Ozawa, T., Koga, Y., and Nonaka, I. (1987).Biochem. Int. 14, 525–530.
Trijbels, J. M. F., Berden, J. A., Monnens, L. A. H., Willems, J. L., Janssen, A. J. M., Schutgens, R. B. H., and Van Den Broek-Van Essen, M. (1983).Pediatr. Res. 17, 514–517.
Van Biervliet, J. P. G. M., Bruinvis, L., Ketting, D., DeBree, P. K., Van Der Heiden, C., Wadman, S. K., Willems, J. L., Bookelman, H., Van Haelst, U., and Monnens, L. A. H. (1977).Pediat. Res. 11, 1088–1093.
Vianey-Liaud, C., Divry, P., Gregersen, N., and Mathieu, M. (1987).J. Inher. Metab. Dis. 10, Suppl. 1, 159–198.
Wallace, D. C. (1986).Hospital Practice 21, 77–92.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kennaway, N.G. Defects in the cytochromebc 1 complex in mitochondrial diseases. J Bioenerg Biomembr 20, 325–352 (1988). https://doi.org/10.1007/BF00769636
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00769636