Defects in mitochondrial respiratory complexes III and IV, and human pathologies

Molecular Aspects of Medicine

Volumn 23, Issue 5, 2002, Pages 385-412

  Borisov, Vitaliy B ^a  

^a MOSCOW STATE UNIVERSITY   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONE; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; OXIDOREDUCTASE; PROTEIN; PROTEIN BCS1L; PROTEIN COX10; PROTEIN SCO1; PROTEIN SURF 1; RESPIRATORY COMPLEX III; UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG;

ARTICLE; GENE MUTATION; HUMAN; MITOCHONDRIAL RESPIRATION; NEUROMUSCULAR DISEASE; PATHOLOGY; PHENOTYPE;

EID: 0036803070     PISSN: 00982997     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0098-2997(02)00013-4     Document Type: Short Survey

References (162)

1. Adams P.L., Lightowlers R.N., Turnbull D.M. Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Ann. Neurol. 41:1997;268-270.
2. 3 in rat liver mitochondria Dokl. Acad. Nauk. SSSR. 244:1979;1013-1017. (in Russian).
3. Andreev I.M., Konstantinov A.A. Reaction of oxidized cytochrome oxidase with cyanide. Effects of pH, cytochrome c and membrane environment. Bioorg. Khim. 9:1983;216-227. (in Russian).
4. Andreu A.L., Bruno C., Dunne T.C., Tanji K., Shanske S., Sue S.M., Krishna S., Hadjigeorgiou G.M., Shtilbans A., Bonilla E., DiMauro S. A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria. Ann. Neurol. 45:1999a;127-130.
5. Andreu A.L., Bruno C., Shanske S., Shtilbans A., Hirano M., Krishna S., Hayward L., Systrom D.S., Brown R.H., DiMauro S. Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy. Neurology. 51:1998;1444-1447.
6. Andreu A.L., Checcarelli N., Iwata S., Shanske S., DiMauro S. A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy. Pediatr. Res. 48:2000;311-314.
7. Andreu A.L., Hanna M.G., Riechmann H., Bruno C., Penn A.S., Tanji K., Pallotti F., Iwata S., Bonilla E., Lach B., Morgan-Hughes J., DiMauro S. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N. Engl. J. Med. 341:1999b;1037-1044.
8. 3 content and changes in phospholipids Biochim. Biophys. Acta. 797:1984;320-327.
9. Atamna H., Liu J., Ames B.N. Heme deficiency selectively interrupts assembly of mitochondrial complex IV in human fibroblasts. Relevance to aging. J. Biol. Chem. 276:2001;48410-48416.
10. Babcock G.T., Wikstrom M. Oxygen activation and the conservation of energy in cell respiration. Nature. 356:1992;301-309.
11. Bataillard M., Chatzoglou E., Rumbach L., Sternberg D., Tournade A., Laforet P., Jardel C., Maisonobe T., Lombes A. Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation. Neurology. 56:2001;405-407.
12. Bonilla E., Tanji K., Hirano M., Vu T.H., DiMauro S., Schon E.A. Mitochondrial involvement in Alzheimer's disease. Biochim. Biophys. Acta. 1410:1999;171-182.
13. 1 complex EMBO J. 10:1991;2023-2031.
14. Boustany R.N., Aprille J.R., Halperin J., Levy H., DeLong G.R. Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin. Ann. Neurol. 14:1983;462-470.
15. Bouzidi M.F., Carrier H., Godinot C. Antimycin resistance and ubiquinol cytochrome c reductase instability associated with a human cytochrome b mutation. Biochim. Biophys. Acta. 1317:1996;199-209.
16. Bruno C., Martinuzzi A., Tang Y., Andreu A.L., Pallotti F., Bonilla E., Shanske S., Fu J., Sue C.M., Angelini C., DiMauro S., Manfredi G. A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV. Am. J. Hum. Genet. 65:1999;611-620.
17. Brunori M., Antonini G., Malatesta F., Sarti P., Wilson M.T. Cytochrome-c oxidase. Subunit structure and proton pumping. Eur. J. Biochem. 169:1987;1-8.
18. Budde S.M., van den Heuvel L.P., Janssen A.J., Smeets R.J., Buskens C.A., DeMeirleir L., Van Coster R., Baethmann M., Voit T., Trijbels J.M., Smeitink J.A. Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. Biochem. Biophys. Res. Commun. 275:2000;63-68.
19. Campos Y., Gamez J., Garcia A., Andreu A.L., Rubio J.C., Martin M.A., del Hoyo P., Navarro C., Cervera C., Garesse R., Arenas J. A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy. Neuromuscul. Disord. 11:2001a;477-480.
20. Campos Y., Garcia-Redondo A., Fernandez-Moreno M.A., Martinez-Pardo M., Goda G., Rubio J.C., Martin M.A., del Hoyo P., Cabello A., Bornstein B., Garesse R., Arenas J. Early-oncet multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome c oxidase II gene. Ann. Neurol. 50:2001b;409-413.
21. Capaldi R.A. Structure and function of cytochrome c oxidase. Annu. Rev. Biochem. 59:1990;569-596.
22. Capkova, M., Hansikova, H., Godinot, C., Houstek, J., Zeman, J., 2001. Biochemical and molecular analysis in five children with Leigh desease caused by cytochrome c oxidase deficiency. Eur. J. Biochem., FEBS Annual Abstracts 2001, Blackwell Science, p. 158
23. Casali C., Bonifati V., Santorelli F.M., Casari G., Fortini D., Patrignani A., Fabbrini G., Carrozzo R., D'Amati G., Locuratolo N., Vanacore N., Damiano M., Pierallini A., Pierelli F., Amabile G.A., Meco G. Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family. Neurology. 56:2001;802-805.
24. Castro-Gago M., Eiris J., Pintos E., Rodrigo E., Blanco-Barca O., Campos Y., Arenas J. Benign congenital myopathy associated with a partial deficiency of complexes I and III of the mitochondrial respiratory chain. Rev. Neurol. 31:2000;838-841. (in Spanish).
25. Chabrol B., Mancini J., Chretien D., Rustin P., Munnich A., Pinsard N. Valproate-induced hepatic failure in a case of cytochrome c oxidase deficiency. Eur. J. Pediatr. 153:1994;133-135.
26. Chandrasekaran K., Hatanpaa K., Brady D.R., Rapoport S.I. Evidence for physiological down-regulation of brain oxidative phosphorylation in Alzheimer's disease. Exp. Neurol. 142:1996;80-88.
27. Ciafaloni E., Ricci E., Shanske S., Moraes C.T., Silvestri G., Hirano M., Simonetti S., Angelini C., Donati M.A., Garcia C.et al. MELAS: clinical features, biochemistry, and molecular genetics. Ann. Neurol. 31:1992;391-398.
28. Coenen M.J., van den Heuvel L.P., Nijtmans L.G., Morava E., Marquardt I., Girschick H.J., Trijbels F.J., Grivell L.A., Smeitink J.A. SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency. Biochem. Biophys. Res. Commun. 265:1999;339-344.
29. Comi G.P., Bordoni A., Salani S., Franceschina L., Sciacco M., Prelle A., Fortunato F., Zeviani M., Napoli L., Bresolin N., Moggio M., Ausenda C.D., Taanman J.W., Scarlato G. Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease. Ann. Neurol. 43:1998;110-116.
30. Cottrell D.A., Blakely E.L., Johnson M.A., Borthwick G.M., Ince P.I., Turnbull D.M. Mitochondrial DNA mutations in disease and ageing. Novartis Found. Symp. 235:2001a;234-243.
31. Cottrell D.A., Blakely E.L., Johnson M.A., Ince P.G., Borthwick G.M., Turnbull D.M. Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age. Neurobiol. Aging. 22:2001b;265-272.
32. Crawford M.L., Harwerth R.S., Smith E.L., Mills S., Ewing B. Experimental glaucoma in primates: changes in cytochrome oxidase blobs in VI cortex. Invest. Ophthalmol. Vis. Sci. 42:2001;358-364.
33. Crivellone M.D. Characterization of CBP4, a new gene essential for the expression of ubiquinol-cytochrome c reductase in Saccharomyces cerevisiae. J. Biol. Chem. 269:1994;21284-21292.
34. 1 complex EMBO J. 18:1999;5226-5233.
35. Darin N., Oldfors A., Moslemi A.R., Holme E., Tulinius M. The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities. Ann. Neurol. 49:2001;377-383.
36. De Coo I.F., Renier W.O., Ruitenbeek W., Ter Laak H.J., Bakker M., Schagger H., Van Oost B.A., Smeets H.J. A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome. Ann. Neurol. 45:1999;130-133.
37. de Lonlay P., Valnot I., Barrientos A., Gorbatyuk M., Tzagoloff A., Taanman J.M., de Benayoun E., Chretien D., Kadhom N., Lombes A., Baulny H.O., Niaudet P., Munnich A., Rustin P., Rotig A. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat. Genet. 29:2001;57-60.
38. Di Giovanni S., Mirabella M., Papacci M., Odoardi F., Silvestri G., Servidei S. Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies. Mol. Cell. Neurosci. 17:2001;696-705.
39. DiMauro S., Lombes A., Nakase H., Mita S., Fabrizi G.M., Tritschler H.J., Bonilla E., Miranda A.F., DeVivo D.C., Schon E.A. Cytochrome c oxidase deficiency. Pediatr. Res. 28:1990;536-541.
40. DiMauro S., Nicholson J.F., Hays A.P., Eastwood A.B., Papadimitriou A., Koenigsberger R., De Vivo D.C. Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency. Ann. Neurol. 14:1983;226-234.
41. DiMauro S., Servidei S., Zeviani M., DiRocco M., De Vivo D.C., DiDonato S., Uziel G., Berry K., Hoganson G., Johnsen S.D., Johson P.C. Cytochrome c oxidase deficiency in Leigh syndrome. Ann. Neurol. 22:1987;498-506.
42. Dumoulin R., Sagnol I., Ferlin T., Bozon D., Stepien G., Mousson B. A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. Mol. Cell. Probes. 10:1996;389-391.
43. Ebadi M., Govitrapong P., Sharma S., Muralikrishnan D., Shavali S., Pellett L., Schafer R., Albano C., Eken J. Ubiquinone (coenzyme q10) and mitochondria in oxidative stress of parkinson's disease. Biol. Signals Recept. 10:2001;224-253.
44. Edery P., Gerard B., Chretien D., Rotig A., Cerrone R., Rabier D., Rambaud C., Fabre M., Saudubray J.M., Munnich A., Rustin P. Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure. Eur. J. Pediatr. 153:1994;190-194.
45. Ferguson-Miller S., Babcock G.T. Heme/copper terminal oxidases. Chem. Rev. 96:1996;2889-2908.
46. Fisher N., Meunier B. Effects of mutations in mitochondrial cytochrome b in yeast and man. Deficiency, compensation and disease. Eur. J. Biochem. 268:2001;1155-1162.
47. Gattermann N., Retzlaff S., Wang Y.L., Hofhaus G., Heinisch J., Aul C., Schneider W. Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia. Blood. 90:1997;4961-4972.
48. Grasso M., Diegoli M., Brega A., Campana C., Tavazzi L., Arbustini E. The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNALeu(CUN) and is associated with dilated cardiomyopathy. Eur. J. Hum. Genet. 9:2001;311-315.
49. Haginoya K., Miyabayashi S., Iinuma K., Okino E., Maesaka H., Tada K. Cytochrome C oxidase-deficient mitochondria in mitochondrial myopathy. Pediatr. Neurol. 8:1992;13-18.
50. Hall R.E., Henriksson K.G., Lewis S.F., Haller R.G., Kennaway N.G. Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins. J. Clin. Invest. 92:1993;2660-2666.
51. Haltia T., Finel M., Harms N., Nakari T., Raitio M., Wikström M., Saraste M. Deletion of the gene for subunit III leads to defective assembly of bacterial cytochrome oxidase. EMBO J. 8:1989;3571-3579.
52. Hanna M.G., Nelson I.P., Rahman S., Lane R.J., Land J., Heales S., Cooper M.J., Schapira A.H., Morgan-Hughes J.A., Wood N.W. Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA. Am. J. Hum. Genet. 63:1998;29-36.
53. Hanson B.J., Carrozzo R., Piemonte F., Tessa A., Robinson B.H., Capaldi R.A. Cytochrome c oxidase-deficient patients have distinct subunits assembly profiles. J. Biol. Chem. 276:2001;16296-16301.
54. Hart Z., Chang C.H. A newborn infant with respiratory distress and persistent stridulous breathing. J. Pediatr. 113:1988;150-155.
55. Hoffbuhr K.C., Davidson E., Filiano B.A., Davidson M., Kennaway N.G., King M.P. A pathogenic 15-base pair deletion in mitochondrial DNA-encoded cytochrome c oxidase subunit III results in the absence of functional cytochrome c oxidase. J. Biol. Chem. 275:2000;13994-14003.
56. Holt I.J., Harding A.E., Cooper J.M., Schapira A.H., Toscano A., Clark J.B., Morgan-Hughes J.A. Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Ann. Neurol. 26:1989;699-708.
57. Hyun Kim J., Eun Kim J., Joon Kim H., Seob Roh G., Myong Yoo J., Soo Kang S., Cho Y., Jae Cho G., Sung Choi W. Ethanol decreases the expression of mitochondrial cytochrome c oxidase mRNA in the rat. Neurosci. Lett. 305:2001;107-110.
58. Ibel H., Endres W., Hadorn H.B., Deufel T., Paetzke I., Duran M., Kennaway N.G., Gibson K.M. Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria. Eur. J. Pediatr. 152:1993;665-670.
59. Ikegaya H., Iwase H., Hatanaka K., Sakurada K., Yoshida K., Takatori T. Diagnosis of cyanide intoxication by measurements of cytochrome c oxidase activity. Toxicol. Lett. 119:2001;117-123.
60. Iwata S., Ostermeier C., Ludwig B., Michel H. Structure at 2.8 Å resolution of cytochrome c oxidase from Paracoccus denitrificans. Nature. 376:1995;660-669.
61. Jaksch M., Ogilvie I., Yao J., Kortenhaus G., Bresser H.-G., Gerbitz K.-D., Shoubridge E.A. Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. Hum. Mol. Genet. 9:2000;795-801.
62. Johns D.R., Neufeld M.J. Cytochrome b mutations in Leber hereditary optic neuropathy. Biochem. Biophys. Res. Commun. 181:1991;1358-1364.
63. Kaido M., Fujimura H., Taniike M., Yoshikawa H., Toyooka K., Yorifuji S., Inui K., Okada S., Sparaco M., Yanagihara T. Focal cytochrome c oxidase deficiency in the brain and dorsal root ganglia in a case with mitochondrial encephalomyopathy (tRNA(Ile) 4269 mutation): histochemical, immunohistochemical, and ultrastructural study. J. Neurol. Sci. 131:1995;170-176.
64. Keightley J.A., Anitory R., Burton M.D., Quan F., Buist N.R.M., Kennaway N.G. Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. Am. J. Hum. Genet. 67:2000;1400-1410.
65. Keightley J.A., Hoffbuhr K.C., Burton M.D., Salas V.M., Johnston W.S., Penn A.M., Buist N.R., Kennaway N.G. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nat. Genet. 12:1996;410-416.
66. Kelley R.I., Corkey B.E. Increased sensitivity of cerebrohepatorenal syndrome fibroblasts to antimycin A. J. Inherit. Metab. Dis. 6:1983;158-162.
67. 1 complex in mitochondrial diseases J. Bioenerg. Biomembr. 20:1988;325-352.
68. Kennaway N.G., Buist N.R., Darley-Usmar V.M., Papadimitriou A., DiMauro S., Kelley R.I., Capaldi R.A., Blank N.K., D'Agostino A. Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain. Pediatr. Res. 18:1984;991-999.
69. Kennaway N.G., Keightley J.A., Burton M.D., Quan F., Libby B.D., Buist N.R.M. Mitochondrial encephalomyopathy associated with a nonsense mutation in cytochrome b. Mol. Genet. Metab. 63:1998;49.
70. Koga Y., Nonaka I., Nakao M., Yoshino M., Tanaka M., Ozawa T., Nakase H., DiMauro S. Progressive cytochrome c oxidase deficiency in a case of Leigh's encephalomyelopathy. J. Neurol. Sci. 95:1990;63-76.
71. 1 complex Biochim. Biophys. Acta. 1018:1990;138-141.
72. Konstantinov A.A. Cytochrome c oxidase as a proton-pumping peroxidase: reaction cycle and electrogenic mechanism. J. Bioenerg. Biomembr. 30:1998;121-130.
73. 2 by mitochondria in the resting state FEBS Lett. 435:1998;215-218.
74. Krugel U., Bigl V., Eschrich K., Bigl M. Deafferentation of the septo-hippocampal pathway in rats as a model of the metabolic events in Alzheimer's disease. Int. J. Dev. Neurosci. 19:2001;263-277.
75. Lamantea E., Carrara F., Mariotti C., Morandi L., Tiranti V., Zeviani M. A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III. Neuromuscul. Disord. 12:2002;49-52.
76. Lee W.T., Wang P.J., Young C., Wang T.R., Shen Y.Z. Cytochrome c oxidase deficiency in fibroblasts of a patient with mitochondrial encephalomyopathy. J. Formos. Med. Assoc. 95:1996;709-711.
77. Lerman-Sagie T., Rustin P., Lev D., Yanoov M., Leshinsky-Silver E., Sagie A., Ben-Gal T., Munnich A. Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone. J. Inherit. Metab. Dis. 24:2001;28-34.
78. Lombes A., Mendell J.R., Nakase H., Barohn R.J., Bonilla E., Zeviani M., Yates A.J., Omerza J., Gales T.L., Nakahara K., Rizzuto R., Engel W.K., DiMauro S. Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics. Ann. Neurol. 26:1989;20-33.
79. Manfredi G., Schon E.A., Moraes C.T., Bonilla E., Berry G.T., Sladky J.T., DiMauro S. A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. Neuromuscul. Disord. 5:1995;391-398.
80. Marin-Garcia J., Hu Y., Ananthakrishnan R., Pierpont M.E., Pierpont G.L., Goldenthal M.J. A point mutation in the cytb gene of cardiac mtDNA associated with complex III deficiency in ischemic cardiomyopathy. Biochem. Mol. Biol. Int. 40:1996;487-495.
81. Martinez Garcia F.A., Jimenez Gomez M.R., Morsi Hassan O., Crawford M.L., Martinez Garcia F.A., Sicilia Guillen J., Fernandez Barreiro A. Acute peritonitis and small bowel diverticula in a patient with mitochondrial neurogastrointestinal encephalomyopathy. Rev. Neurol. 33:2001;328-333. (in Spanish).
82. Maurer I., Zierz S., Moller H. Evidence for a mitochondrial oxidative phosphorylation defect in brains from patients with schizophrenia. Schizophr. Res. 48:2001;125-136.
83. Michel H., Behr J., Harrenga A., Kannt A. Cytochrome c oxidase: structure and spectroscopy. Annu. Rev. Biophys. Biomol. Struct. 27:1998;329-356.
84. Mourmans J., Wendel U., Bentlage H.A., Trijbels J.M., Smeitink J.A., de Coo I.F., Gabreels F.J., Sengers R.C., Ruitenbeek W. Clinical heterogeneity in respiratory chain complex III deficiency in childhood. J. Neurol. Sci. 149:1997;111-117.
85. Munaro M., Tiranti V., Sandona D., Lamantea E., Uziel G., Bisson R., Zeviani M. A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome. Hum. Mol. Genet. 6:1997;221-228.
86. 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., Van den Bogert C. Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy. Biochim. Biophys. Acta. 1270:1995;193-201.
87. Nobrega F.G., Nobrega M.P., Tzagoloff A. BCS1, a novel gene required for the expression of functional Rieske iron-sulfur protein in Saccharomyces cerevisiae. EMBO J. 11:1992;3821-3829.
88. Nonaka I., Koga Y., Shikura K., Kobayashi M., Sugiyama N., Okino E., Nihei K., Tojo M., Segawa M. Muscle pathology in cytochrome c oxidase deficiency. Acta Neuropathol. (Berl.). 77:1988;152-160.
89. Ogier H., Lombes A., Scholte H.R., Poll-The B.T., Fardeau M., Alcardi J., Vignes B., Niaudet P., Saudubray J.M. de Toni-Fanconi-Debre syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency. J. Pediatr. 112:1988;734-739.
90. Ohno M., Kobayashi T., Tanaka K., Goto I., Nonaka I. Mitochondrial encephalomyopathy (focal cytochrome c oxidase deficiency) with transient episodes of muscle weakness and elevation of serum creatine kinase activity. Rinsho Shinkeigaku. 30:1990;317-319. (in Japanese).
91. Ojaimi J., Byrne E. Mitochondrial function and Alzheimer's disease. Biol. Signals Recept. 10:2001;254-262.
92. Papadopoulou L.C., Sue C.M., Davidson M.M., Tanji K., Nishino I., Sadlock J.E., Krishna S., Walker W., Selby J., Glerum D.M., Coster R.V., Lyon G., Scalais E., Lebel R., Kaplan P., Shanske S., De Vivo D.C., Bonilla E., Hirano M., DiMauro S., Schon E.A. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat. Genet. 23:1999;333-337.
93. Parker W.D., Mahr N.J., Filley C.M., Parks J.K., Hughes D., Young D.A., Cullum C.M. Reduced platelet cytochrome c oxidase activity in Alzheimer's disease. Neurology. 44:1994a;1086-1090.
94. Parker W.D., Parks J., Filley C.M., Kleinschmidt-DeMasters B.K. Electron transport chain defects in Alzheimer's disease brain. Neurology. 44:1994b;1090-1096.
95. Parker W.D., Parks J.K. Cytochrome c oxidase in Alzheimer's disease brain: purification and characterization. Neurology. 45:1995;482-486.
96. Pequignot M.O., Desguerre I., Dey R., Tartari M., Zeviani M., Agostino A., Benelli F., Fouque F., Prip-Buus C., Marchant D., Abitbol M., Marsac C. New splicing-site mutations in the SURF1 gene in Leigh syndrome patients. J. Biol. Chem. 276:2001a;15326-15329.
97. Pequignot M.O., Dey R., Zeviani M., Tiranti V., Godinot C., Poyau A., Sue C., DiMauro S., Abitbol M., Marsac C. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. Hum. Mutat. 17:2001b;374-381.
98. Pesce V., Cormio A., Fracasso F., Vecchiet J., Felzani G., Lezza A.M., Cantatore P., Gadaleta M.N. Age-related mitochondrial genotypic and phenotypic alterations in human skeletal muscle. Free Radic. Biol. Med. 30:2001;1223-1233.
99. Petruzzella V., Tiranti V., Fernandez P., Ianna P., Carrozzo R., Zeviani M. Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. Genomics. 54:1998;494-504.
100. Possekel S., Ogier de Lombes A., Baulny H., Cheval M.A., Fardeau M., Kadenbach B., Romero N.B. Immunohistochemical analysis of muscle cytochrome c oxidase deficiency in children. Histochem. Cell. Biol. 103:1995;59-68.
101. Poyau A., Buchet K., Bouzidi M.F., Zabot M.T., Echenne B., Yao J., Shoubridge E.A., Godinot C. Missense mutations in SURF1 associated with deficient cytochtome c oxidase assembly in Leigh syndrome patients. Hum. Genet. 106:2000;194-205.
102. 3 in muscle: a report of two unrelated patients Clin. Neurol. Neurosurg. 85:1983;57-70.
103. Qiu X., Chen Y., Zhou M. Two point mutations in mitochondrial DNA of cytochrome c oxidase coexist with normal mtDNA in a patient with Alzheimer's disease. Brain Res. 893:2001;261-263.
104. Rahman S., Blok R.B., Dahl H.H., Danks D.M., Kirby D.M., Chow C.W., Christodoulou J., Thorburn D.R. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann. Neurol. 39:1996;343-351.
105. Rahman S., Brown R.M., Chong W.K., Wilson C.J., Brown G.K. A SURF1 gene mutation presenting as isolated leukodystrophy. Ann. Neurol. 49:2001;797-800.
106. Rahman S., Lake B.D., Taanman J.W., Hanna M.G., Cooper J.M., Schapira A.H., Leonard J.V. Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms. Brain. 123:2000;591-600.
107. Rahman S., Taanman J.W., Cooper J.M., Nelson I., Hargreaves I., Meunier B., Hanna M.G., Garcia J.J., Capaldi R.A., Lake B.D., Leonard J.V., Schapira A.H. A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. Am. J. Hum. Genet. 65:1999;1030-1039.
108. Rana M., de Coo I., Diaz F., Smeets H., Moraes C.T. An out-of-frame cytochrome b gene deletion from a patient with parkinsonism is associated with impaired complex III assembly and an increase in free radical production. Ann. Neurol. 48:2000;774-781.
109. Robinson B.H. Lacticacidemia. Biochim. Biophys. Acta. 1182:1993;231-244.
110. Rossi L., De Martino A., Marchese E., Piccirilli S., Rotilio G., Ciriolo M.R. Neurodegeneration in the animal model of Menkes' disease involves Bcl-2-linked apoptosis. Neuroscience. 103:2001;181-188.
111. Rubio-Gozalbo M.E., Smeitink J.A.M., Ruitenbeek W., Ter Laak H., Mullaart R.A., Schuelke M., Mariman E.C.M., Sengers R.C.A., Gabreels F.J.M. Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency. Neurology. 52:1999;383.
112. Sanchez-Alcazar J.A., Khodjakov A., Schneider E. Anticancer drugs induce increased mitochondrial cytochrome c expression that precedes cell death. Cancer Res. 61:2001;1038-1044.
113. Satoh M., Kuroiwa T. Organization of multiple nucleoids and DNA molecules in mitochondria of a human cell. Exp. Cell. Res. 196:1991;137-140.
114. Saunier P., Chretien D., Wood C., Rotig A., Bonnefont J.P., Saudubray J.M., Rabier D., Munnich A., Rustin P. Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria. Neuromuscul. Disord. 5:1995;285-289.
115. Savasta S., Comi G.P., Perini M.P., Lupi A., Strazzer S., Rognoni F., Rossoni R. Leigh disease: clinical, neuroradiologic, and biochemical study of three new cases with cytochrome c oxidase deficiency. J. Child. Neurol. 16:2001;608-613.
116. Schägger H., Brandt U., Gencic S., van Jagow G. Ubiquinol-cytochrome c reductase from human and bovine mitochondria. Methods Enzymol. 260:1995;82-96.
117. Schon E.A., Bonilla E., Lombes A., Moraes C.T., Nakase H., Rizzuto R., Zeviani M., DiMauro S. Clinical and biochemical studies on cytochrome oxidase deficiencies. Ann. NY Acad. Sci. 550:1988;348-359.
118. Schon E.A., DiMauro S. Primary disorders of mitochondrial DNA and the pathophysiology of mtDNA-related disorders. Lemasters, Nieminen Mitochondria in Pathogenesis. 2001;53-80 Kluwer Academic/Plenum Publishers, New York.
119. Shoubridge, E.A., 2001. Nuclear genes, mitochondrial diseases. Eur. J. Biochem., FEBS Annual Abstracts 2001, Blackwell Science, Oxford, p. 25
120. Simonian N.A., Hyman B.T. Functional alterations in Alzheimer's disease: selective loss of mitochondrial-encoded cytochrome oxidase mRNA in the hippocampal formation. J. Neuropathol. Exp. Neurol. 53:1994;508-512.
121. Skulachev V.P. Mitochondrial physiology and pathology; concepts of programmed death of organelles, cells and organisms. Mol. Aspects Med. 20:1999;139-184.
122. Soccio P.S., Phillips W.P., Bonisteel P., Bennett K.A. Pregnancy with cytochrome oxidase-deficient mitochondrial myopathy. Obstet. Gynecol. 97:2001;815-816.
123. Sue C.M., Karadimas C., Checcarelli N., Tanji K., Papadopoulou L.C., Pallotti F., Guo F.L., Shanske S., Hirano M., De Vivo D.C., Van Coster R., Kaplan P., Bonilla E., DiMauro S. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. Ann. Neurol. 47:2000;589-595.
124. Sue C.M., Schon E.A. Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising start? Brain Pathol. 10:2000;442-450.
125. Suzuki M., Sugie H., Tsurui S., Miyamoto R., Sugie Y., Igarashi Y., Kaku H., Fukami S. Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency: histological and biochemical analysis. No To Hattatsu. 21:1989;543-549. (in Japanese).
126. Taanman J.W. Human cytochrome c oxidase: structure, function, and deficiency. J. Bioenerg. Biomembr. 29:1997;151-163.
127. Taanman J.W., Burton M.D., Marusich M.F., Kennaway N.G., Capaldi R.A. Subunit specific monoclonal antibodies show different steady-state levels of various cytochrome-c oxidase subunits in chronic progressive external ophthalmoplegia. Biochim. Biophys. Acta. 1315:1996;199-207.
128. Tanji N., Tanji K., Kambham N., Markowitz G.S., Bell A., D'agati V.D. Adefovir nephrotoxicity: possible role of mitochondrial DNA depletion. Hum. Pathol. 32:2001;734-740.
129. Teraoka M., Yokoyama Y., Ninomiya S., Inoue C., Yamashita S., Seino Y. Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency. Hum. Genet. 105:1999;560-563.
130. Tiranti V., Corona P., Greco M., Taanman J.-W., Carrara F., Lamantea E., Nijtmans L., Uziel G., Zeviani M. A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. Hum. Mol. Genet. 9:2000;2733-2742.
131. Tiranti V., Galimberti C., Nijtmans L., Bovolenta S., Perini M.P., Zeviani M. Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions. Hum. Mol. Genet. 8:1999a;2533-2540.
132. Tiranti V., Hoertnagel K., Carrozzo R., Galimberti C., Munaro M., Granatiero M., Zelante L., Gasparini P., Marzella R., Rocchi M., Bayona-Bafaluy M.P., Enriquez J.A., Uziel G., Bertini E., Dionisi-Vici C., Franco B., Meitinger T., Zeviani M. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am. J. Hum. Genet. 63:1998;1609-1621.
133. Tiranti V., Jaksch M., Hofmann S., Galimberti C., Hoertnagel K., Lulli L., Freisinger P., Bindoff L., Gerbitz K.D., Comi G.P., Uziel G., Zeviani M., Meitinger T. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann. Neurol. 46:1999b;161-166.
134. Toscano A., Fazio M.C., Vita G., Cannavo S., Bresolin N., Bet L., Prelle A., Barbiroli B., Iotti S., Zaniol P.et al. Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C. J. Neurol. 242:1995;203-309.
135. Toyono M., Nakano K., Kiuchi M., Imai K., Suzuki H., Shishikura K., Osawa M., Shiratori K., Goto Y., Nonaka I., Sugie H. A case of MERRF associated with chronic pancreatitis. Neuromuscul. Disord. 11:2001;300-304.
136. Tsukihara T., Aoyama H., Yamashita E., Tomizaki T., Yamaguchi H., Shinzawa-Itoh K., Nakashima R., Yaono R., Yoshikawa S. The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 Å Science. 272:1996;1136-1144.
137. Turrens J.F., Alexandre A., Lehninger A.L. Ubisemiquinone is the electron donor for superoxide formation by complex III of heart mitochondria. Arch. Biochem. Biophys. 237:1985;408-414.
138. Tzagoloff A., Capitanio N., Nobrega M.P., Gatti D. Cytochrome oxidase assembly in yeast requires the product of COX 11, a homolog of the P. denitrificans protein encoded by ORF3. EMBO J. 9:1990;2759-2764.
139. Valla J., Berndt J.D., Gonzalez-Lima F. Energy hypometabolism in posterior cingulate cortex of Alzheimer's patients: superficial laminar cytochrome oxidase associated with disease duration. J. Neurosci. 21:2001;4923-4930.
140. Valnot I., Kassis J., Chretien D., de Lonlay P., Parfait B., Munnich A., Kachaner J., Rustin P., Rotig A. A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency. Hum. Genet. 104:1999;460-466.
141. Valnot I., Osmond S., Gigarel N., Mehaye B., Amiel J., Cormier-Daire V., Munnich A., Bonnefont J.P., Rustin P., Rotig A. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am. J. Hum. Genet. 67:2000a;1104-1109.
142. Valnot I., von Kleist-Retzow J.-C., Barrientos A., Gorbatyuk M., Taanman J.-W., Mehaye B., Rustin P., Tzagoloff A., Munnich A., Rotig A. A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency. Hum. Mol. Genet. 9:2000b;1245-1249.
143. Van Coster R., De Meirleir L. Mitochondrial cytopathies and neuromuscular disorders. Acta Neurol. Belg. 100:2000;156-161.
144. von Kleist-Retzow J.C., Cormier-Daire V., de Lonlay P., Parfait B., Chretien D., Rustin P., Feingold J., Rotig A., Munnich A. A high rate (20-30%) of parental consanguinity in cytochrome-oxidase deficiency. Am. J. Hum. Genet. 63:1998;428-435.
145. von Kleist-Retzow J.-C., Vial E., Chantrel-Groussard K., Rotig A., Munnich A., Rustin P., Taanman J.-W. Biochemical, genetic and immunoblot analysis of 17 patients with an isolated cytochrome c oxidase deficiency. Biochim. Biophys. Acta. 1455:1999;35-44.
146. Vulpe C., Levinson B., Whitney S., Packman S., Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat. Genet. 3:1993;7-13.
147. Wada H., Nishio H., Nagaki S., Yanagawa H., Imamura A., Yokoyama S., Sano T., Woo M., Matsuo M., Itoh H., Nakamura H. Benign infantile mitochondrial myopathy caused by reversible cytochrome c oxidase deficiency. No To Hattatsu. 28:1996a;443-447. (in Japanese).
148. Wada H., Woo M., Nishio H., Nagaki S., Yanagawa H., Imamura A., Yokoyama S., Ohbayashi C., Matsuo M., Itoh H., Nakamura H. Vascular involvement in benign infantile mitochondrial myopathy caused by reversible cytochrome c oxidase deficiency. Brain Dev. 18:1996b;263-268.
149. Wallace D.C., Zheng X.X., Lott M.T., Shoffner J.M., Hodge J.A., Kelley R.I., Epstein C.M., Hopkins L.C. Familian mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell. 55:1988;601-610.
150. Wasniewska M., Karczmarewicz E., Pronicki M., Piekutowska-Abramczuk D., Zablocki K., Popowska E., Pronicka E., Duszynski J. Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease. Biochem. Biophys. Res. Commun. 283:2001;687-693.
151. Wikström M. Identification of the electron transfers in cytochrome oxidase that are coupled to proton-pumping. Nature. 338:1989;776-778.
152. Williams S.L., Taanman J.W., Hansikova H., Houst'kova H., Chowdhury S., Zeman J., Houstek J. A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient Leigh syndrome and hypertrichosis. Mol. Genet. Metab. 73:2001;340-343.
153. 2-cytochrome c reductase J. Biol. Chem. 264:1989;11122-11130.
154. 1 complex from bovine heart mitochondria Science. 277:1997;60-66.
155. Yao J., Shoubridge E.A. Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency. Hum. Mol. Genet. 8:1999;2541-2549.
156. Yoshikawa S., Shinzawa-Itoh K., Tsukihara T. Crystal structure of bovine heart cytochrome c oxidase at 2.8 Å resolution. J. Bioenerg. Biomembr. 30:1998;7-14.
157. 1 complex J. Bioenerg. Biomembr. 31:1999;191-199.
158. Zeviani M., Corona P., Nijtmans L., Tiranti V. Nuclear gene defects in mitochondrial disorders. Ital. J. Neurol. Sci. 20:1999;401-408.
159. Zeviani M., Gellera C., Antozzi C., Rimoldi M., Morandi L., Villani F., Tiranti V., DiDonato S. Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR). Lancet. 338:1991;143-147.
160. Zeviani M., Van Dyke D.H., Servidei S., Bauserman S.C., Bonilla E., Beaumont E.T., Sharda J., VanderLaan K., DiMauro S. Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency. Arch. Neurol. 43:1986;1198-1202.
161. Zhang G., Wang Z., Lin M. Mitochondrial tRNA(leu(UUR)) gene mutation and the decreased activity of cytochrome C oxidase in preeclampsia. Zhonghua Fu Chan Ke Za Zhi. 34:1999;403-405. (in Chinese).
162. Zhu Z., Yao J., Johns T., Fu K., De Bie I., Macmillan C., Cuthbert A.P., Newbold R.F., Wang J., Chevrette M., Brown G.K., Brown R.M., Shoubridge E.A. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat. Genet. 20:1998;337-343.