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Function and dysfunction of the oxidative phosphorylation system

  • Leo G.J. NijtmansEmail author
  • Cristina Ugalde
  • Lambert P. van den Heuvel
  • Jan A.M. Smeitink
Chapter
Part of the Topics in Current Genetics book series (TCG, volume 8)

Abstract

The key energy source in a cell is the high-energy compound ATP, which is mainly generated by oxidative phosphorylation (OXPHOS). The mammalian OXPHOS system comprises five large membrane complexes, which are believed to be organised in higher order assemblies, supercomplexes. The complexes are built from numerous polypeptide subunits and prosthetic groups and their biosynthesis is a complicated process that requires both nuclear and mitochondrial gene products. Many genetic defects can occur that cause improper function of the OXPHOS system and a decrease in ATP production, but also can lead to an increase of toxic reactive oxygen species. Recent advances have revealed new structural components and components of the assembly machinery of the OXPHOS system. This review describes the components of the OXPHOS system, their organisation, proteins involved in their biogenesis, and mutations in these components, which have been described to affect OXPHOS function leading to disorders.

Keywords

OXPHOS System High Order Assembly DVVRFLDWHG ZLWK Mitochondrial Gene Product ZHUH IRXQG 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1. Abrahams JP, Leslie AG, Lutter R, Walker JE (1994) Structure at 2.8 Å resolution of F1-ATPase from bovine heart mitochondria. Nature 370:621-628PubMedGoogle Scholar
  2. 2. Ackerman SH, Tzagoloff A (1990) ATP 10, a yeast nuclear gene required for the assembly of the mitochondrial F1-F0 complex. J Biol Chem 265:9952-9959PubMedGoogle Scholar
  3. 3. Ackrell BA (2000) Progress in understanding structure-function relationships in respiratory chain complex II. FEBS Lett 466:1-5PubMedGoogle Scholar
  4. 4. Ackrell BA (2002) Cytopathies involving mitochondrial complex II. Mol Aspects Med 23:369-384PubMedGoogle Scholar
  5. 5. Ahlers PM, Garofano A, Kerscher SJ, Brandt U (2000) Application of the obligate aerobic yeast Yarrowia lipolytica as a eucaryotic model to analyse Leigh syndrome mutations in the complex I core subunits PSST and TYKY. Biochim Biophys Acta 1459:258-265PubMedGoogle Scholar
  6. 6. Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, Kennaway NG, Shoubridge EA (2003b) Mutations in COX15 produce a defect in the mitochon-drial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopa-thy. Am J Hum Genet 72:101-114PubMedGoogle Scholar
  7. 7. Antonicka H, Ogilvie I, Taivassalo T, Anitori RP, Haller RG, Vissing J, Kennaway NG, Shoubridge EA (2003a) Identification and characterization of a common set of com-plex I assembly intermediates in mitochondria from patients with complex I defi-ciency. J Biol Chem: in pressGoogle Scholar
  8. 8. Arnold I, Pfeiffer K, Neupert W, Stuart RA, Schägger H (1998) Yeast mitochondrial F1F0-ATP synthase exists as a dimer: identification of three dimer-specific subunits. EMBO J 17:7170-7178PubMedGoogle Scholar
  9. 9. Arnold S, Kadenbach B (1997) Cell respiration is controlled by ATP, an allosteric inhibitor of cytochrome-c oxidase. Eur J Biochem 249:350-354PubMedGoogle Scholar
  10. 10. Barrientos A, Barros MH, Valnot I, Rotig A, Rustin P, Tzagoloff (2002) A Cytochrome oxidase in health and disease. Gene 286:53-63PubMedGoogle Scholar
  11. 11. Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard CW, Cornelisse CJ, Devilee P, Devlin B (2000) Mutations in SDHD, a mitochondrial complex II gene, in heredi-tary paraganglioma. Science 287:848-851PubMedGoogle Scholar
  12. 12. Belogrudov GI, Tomich JM, Hatefi Y (1996) Membrane topography and near-neighbor re-lationships of the mitochondrial ATP synthase subunits e, f, and g. J Biol Chem 271:20340-20345PubMedGoogle Scholar
  13. 13. Benit P, Beugnot R, Chretien D, Giurgea I, De Lonlay-Debeney P, Issartel JP, Corral-Debrinski M, Kerscher S, Rustin P, Rotig A, Munnich A (2003b) Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. Hum Mutat 21:582-586PubMedGoogle Scholar
  14. 14. Benit P, Chretien D, Kadhom N, De Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peu-denier S, Rustin P, Munnich A, Rotig A (2001a) Large-scale deletion and point muta-tions of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I defi-ciency. Am J Hum Genet 68:1344-1352PubMedGoogle Scholar
  15. 15. Bennett HP, Chang RY, Nelbach L, Adelson JW (1990) The amino acid sequence of chy-modenin, a hormone-like peptide from porcine duodenum, is identical to cytochrome C-oxidase, peptide VII. Regul Pept 29:241-250PubMedGoogle Scholar
  16. 16. Berry EA, Guergova-Kuras M, Huang LS, Crofts AR (2000) Structure and function of cy-tochrome bc complexes. Annu Rev Biochem 69:1005-1075PubMedGoogle Scholar
  17. 17. Birch-Machin MA, Marsac C, Ponsot G, Parfait B, Taylor RW, Rustin P, Munnich A (1996) Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain. Bio-chem Biophys Res Commun 220:57-62Google Scholar
  18. 18. Bottcher B, Scheide D, Hesterberg M, Nagel-Steger L, Friedrich T (2002) A novel, enzy-matically active conformation of the Escherichia coli NADH:ubiquinone oxidoreduc-tase (complex I). J Biol Chem 277:17970-17977PubMedGoogle Scholar
  19. 19. Boumans H, Grivell LA, Berden JA (1998) The respiratory chain in yeast behaves as a sin-gle functional unit. J Biol Chem 273:4872-4877PubMedGoogle Scholar
  20. 20. Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Pequignot E, Munnich A, Rotig A (1995) Mutation of a nuclear succinate dehydrogenase gene re-sults in mitochondrial respiratory chain deficiency. Nat Genet 11:144-149PubMedGoogle Scholar
  21. 21. Brandt U, Kerscher S, Drose S, Zwicker K, Zickermann V (2003) Proton pumping by NADH:ubiquinone oxidoreductase. A redox driven conformational change mecha-nism? FEBS Lett 545:9-17PubMedGoogle Scholar
  22. 22. Brasseur G, Tron G, Dujardin G, Slonimski PP, Brivet-Chevillotte P (1997) The nuclear ABC1 gene is essential for the correct conformation and functioning of the cytochrome bc1 complex and the neighbouring complexes II and IV in the mitochondrial respira-tory chain. Eur J Biochem 246:103-111PubMedGoogle Scholar
  23. 23. Braun HP, Emmermann M, Kruft V, Schmitz UK (1992) Cytochrome c1 from potato: a protein with a presequence for targeting to the mitochondrial intermembrane space. Mol Gen Genet 231:217-225PubMedGoogle Scholar
  24. 24. Budde SM, van den Heuvel LP, Janssen AJ, Smeets RJ, Buskens CA, DeMeirleir L, Van Coster R, Baethmann M, Voit T, Trijbels JM, Smeitink JA (2000) Combined enzy-matic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. Biochem Biophys Res Commun 275:63-68PubMedGoogle Scholar
  25. 25. Cabezon E, Runswick MJ, Leslie AG, Walker JE (2001) The structure of bovine IF(1), the regulatory subunit of mitochondrial F-ATPase. EMBO J 20(24):6990-6996PubMedGoogle Scholar
  26. 26. Carlson CG, Barrientos A, Tzagoloff A, Glerum DM (2003) COX16 encodes a novel pro-tein required for the assembly of cytochrome oxidase in Saccharomyces cerevisiae. J Biol Chem 278:3770-3775PubMedGoogle Scholar
  27. 27. Carroll J, Shannon RJ, Fearnley IM, Walker JE, Hirst J (2002) Definition of the nuclear en-coded protein composition of bovine heart mitochondrial complex I. Identification of two new subunits. J Biol Chem 277:50311-50317PubMedGoogle Scholar
  28. 28. Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Durr A, Fontaine B, Ballabio A (1998) Spastic para-plegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93:973-983PubMedGoogle Scholar
  29. 29. Chen Q, Vazquez EJ, Moghaddas S, Hoppel CL, Lesnefsky EJ (2003) Production of reac-tive oxygen species by mitochondria: Central role of complex III. J Biol Chem: Ahead of printGoogle Scholar
  30. 30. Chomyn A (2001) Mitochondrial genetic control of assembly and function of complex I in mammalian cells. J Bioenerg Biomembr 33:251-257PubMedGoogle Scholar
  31. 31. Chomyn A, Cleeter MW, Ragan CI, Riley M, Doolittle RF, Attardi G (1986) URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit. Science 234:614-618PubMedGoogle Scholar
  32. 32. Chomyn A, Mariottini P, Cleeter MW, Ragan CI, Matsuno-Yagi A, Hatefi Y, Doolittle RF, Attardi G (1985) Six unidentified reading frames of human mitochondrial DNA en-code components of the respiratory-chain NADH dehydrogenase. Nature 314:592-597PubMedGoogle Scholar
  33. 33. Clay VJ, Ragan CI (1988) Evidence for the existence of tissue specific isoenzymes of mito-chondrial NADH dehydrogenase. Biochem Biophys Res Commun 157:1423-1428PubMedGoogle Scholar
  34. 34. Crivellone MD, Wu MA, Tzagoloff A (1988) Assembly of the mitochondrial membrane system. Analysis of structural mutants of the yeast coenzyme QH2-cytochrome c re-ductase complex. J Biol Chem 263:14323-14333PubMedGoogle Scholar
  35. 35. Davis KA, Hatefi Y (1972) Resolution and reconstitution of complex II (succinate-ubiquinone reductase) by salts. Arch Biochem Biophys 149:505-512PubMedGoogle Scholar
  36. 36. de Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman JW, Benayoun E, Chretien D, Kadhom N, Lombes A, de Baulny HO, Niaudet P, Munnich A, Rustin P, Rotig A (2001) A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet 29:57-60Google Scholar
  37. 37. Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, Pelloquin L, Gros-george J, Turc-Carel C, Perret E, Astarie-Dequeker C, Lasquellec L, Arnaud B, Du-commun B, Kaplan J, Hamel CP (2000) Nuclear gene OPA1, encoding a mitochon-drial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 26:207-210PubMedGoogle Scholar
  38. 38. Dibrov E, Fu S, Lemire BD (1998) The Saccharomyces cerevisiae TCM62 gene encodes a chaperone necessary for the assembly of the mitochondrial succinate dehydrogenase (complex II). J Biol Chem 273:32042-32048PubMedGoogle Scholar
  39. 39. DiMauro S, Schon EA (2003) Mitochondrial respiratory-chain diseases. N Engl J Med 348:2656-2668PubMedGoogle Scholar
  40. 40. Djafarzadeh R, Kerscher S, Zwicker K, Radermacher M, Lindahl M, Schägger H, Brandt U (2000) Biophysical and structural characterization of proton-translocating NADH-dehydrogenase (complex I) from the strictly aerobic yeast Yarrowia lipolytica. Bio-chim Biophys Acta 1459:230-238Google Scholar
  41. 41. Duarte M, Mota N, Pinto L, Videira A (1998) Inactivation of the gene coding for the 30.4-kDa subunit of respiratory chain NADH dehydrogenase: is the enzyme essential for Neurospora? Mol Gen Genet 257:368-375PubMedGoogle Scholar
  42. 42. Duarte M, Sousa R, Videira A (1995) Inactivation of genes encoding subunits of the pe-ripheral and membrane arms of neurospora mitochondrial complex I and effects on en-zyme assembly. Genetics 139:1211-1221PubMedGoogle Scholar
  43. 43. Eng C, Kiuru M, Fernandez MJ, Aaltonen LA (2003) A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat Rev Cancer 3:193-202PubMedGoogle Scholar
  44. 44. Esposito LA, Melov S, Panov A, Cottrell BA, Wallace DC (1999) Mitochondrial disease in mouse results in increased oxidative stress. Proc Natl Acad Sci USA 96:4820-4825PubMedGoogle Scholar
  45. 45. Fearnley IM, Carroll J, Shannon RJ, Runswick MJ, Walker JE, Hirst J (2001) GRIM-19, a cell death regulatory gene product, is a subunit of bovine mitochondrial NADH:ubiquinone oxidoreductase (complex I). J Biol Chem 276:38345-38348PubMedGoogle Scholar
  46. 46. Friedrich T (1998) The NADH:ubiquinone oxidoreductase (complex I) from Escherichia coli. Biochim Biophys Acta 1364:134-146PubMedGoogle Scholar
  47. 47. Friedrich T, Strohdeicher M, Hofhaus G, Preis D, Sahm H, Weiss H (1990) The same do-main motif for ubiquinone reduction in mitochondrial or chloroplast NADH dehydro-genase and bacterial glucose dehydrogenase. FEBS Lett 265:37-40PubMedGoogle Scholar
  48. 48. Friedrich T, Weiss H (1997) Modular evolution of the respiratory NADH:ubiquinone oxi-doreductase and the origin of its modules. J Theor Biol 187:529-540PubMedGoogle Scholar
  49. 49. Galante YM, Hatefi Y (1978) Resolution of complex I and isolation of NADH dehydroge-nase and an iron-sulfur protein. Methods Enzymol 53:15-21PubMedGoogle Scholar
  50. 50. Grigorieff N (1999) Structure of the respiratory NADH:ubiquinone oxidoreductase (com-plex I). Curr Opin Struct Biol 9:476-483PubMedGoogle Scholar
  51. 51. Grivell LA, Artal-Sanz M, Hakkaart G, de Jong L, Nijtmans LG, van Oosterum K, Siep M, van der Spek H (1999) Mitochondrial assembly in yeast. FEBS Lett 452:57-60PubMedGoogle Scholar
  52. 52. Guenebaut V, Schlitt A, Weiss H, Leonard K, Friedrich T (1998) Consistent structure be-tween bacterial and mitochondrial NADH:ubiquinone oxidoreductase (complex I). J Mol Biol 276:105-112PubMedGoogle Scholar
  53. 53. Guenebaut V, Vincentelli R, Mills D, Weiss H, Leonard KR (1997) Three-dimensional structure of NADH-dehydrogenase from Neurospora crassa by electron microscopy and conical tilt reconstruction. J Mol Biol 265:409-418PubMedGoogle Scholar
  54. 54. Halliwell B (1999) Antioxidant defence mechanisms: from the beginning to the end (of the beginning). Free Radic Res 31:261-272PubMedGoogle Scholar
  55. 55. Haut S, Brivet M, Touati G, Rustin P, Lebon S, Garcia-Cazorla A, Saudubray JM, Boutron A, Legrand A, Slama A (2003) A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. Hum Genet 113:118-122PubMedGoogle Scholar
  56. 56. Hirst J, Carroll J, Fearnley IM, Shannon RJ, Walker JE (2003) The nuclear encoded sub-units of complex I from bovine heart mitochondria. Biochim Biophys Acta 1604:135-150PubMedGoogle Scholar
  57. 57. Holt IJ, Harding AE, Morgan-Hughes JA (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331:717-719PubMedGoogle Scholar
  58. 58. Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA (1990) A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 46:428-433PubMedGoogle Scholar
  59. 59. Janssen R, Smeitink J, Smeets R, van den Heuvel L (2002) CIA30 complex I assembly factor: a candidate for human complex I deficiency? Hum Genet 110:264-270PubMedGoogle Scholar
  60. 60. Jin H, May M, Tranebjaerg L, Kendall E, Fontan G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C, Vetrie D (1996) A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Nat Genet 14:177-180PubMedGoogle Scholar
  61. 61. Johns DR, Neufeld MJ (1991) Cytochrome b mutations in Leber hereditary optic neuropa-thy. Biochem Biophys Res Commun 181:1358-1364PubMedGoogle Scholar
  62. 62. Kashani-Poor N, Zwicker K, Kerscher S, Brandt U (2001) A central functional role for the 49-kDa subunit within the catalytic core of mitochondrial complex I. J Biol Chem 276:24082-24087PubMedGoogle Scholar
  63. 63. Kaukonen J, Juselius JK, Tiranti V, Kyttala A, Zeviani M, Comi GP, Keranen S, Peltonen L, Suomalainen A (2000) Role of adenine nucleotide translocator 1 in mtDNA mainte-nance. Science 289:782-785PubMedGoogle Scholar
  64. 64. Kennaway NG, Carrero-Valenzuela RD, Ewart G, Balan VK, Lightowlers R, Zhang YZ, Powell BR, Capaldi RA, Buist NR (1990) Isoforms of mammalian cytochrome c oxi-dase: correlation with human cytochrome c oxidase deficiency. Pediatr Res 28:529-535PubMedGoogle Scholar
  65. 65. Koutnikova H, Campuzano V, Foury F, Dolle P, Cazzalini O, Koenig M (1997) Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat Genet 16:345-351PubMedGoogle Scholar
  66. 66. Kuffner R, Rohr A, Schmiede A, Krull C, Schulte U (1998) Involvement of two novel chaperones in the assembly of mitochondrial NADH:Ubiquinone oxidoreductase (complex I). J Mol Biol 283:409-417PubMedGoogle Scholar
  67. 67. Lamantea E, Carrara F, Mariotti C, Morandi L, Tiranti V, Zeviani M (2002) A novel non-sense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III. Neuromuscul Disord 12:49-52PubMedGoogle Scholar
  68. 68. Legros F, Chatzoglou E, Frachon P, Ogier DB, Laforet P, Jardel C, Godinot C, Lombes A (2001) Functional characterization of novel mutations in the human cytochrome b gene. Eur J Hum Genet 9:510-518PubMedGoogle Scholar
  69. 69. Leif H, Weidner U, Berger A, Spehr V, Braun M, van Heek P, Friedrich T, Ohnishi T, Weiss H (1993) Escherichia coli NADH dehydrogenase I, a minimal form of the mito-chondrial complex I. Biochem Soc Trans 21:998-1001PubMedGoogle Scholar
  70. 70. Li Y, Huang TT, Carlson EJ, Melov S, Ursell PC, Olson JL, Noble LJ, Yoshimura MP, Berger C, Chan PH (1995) Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase. Nat Genet 11:376-381PubMedGoogle Scholar
  71. 71. Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L (1998) The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet 63:1598-1608PubMedGoogle Scholar
  72. 72. Loeffen J, Elpeleg O, Smeitink J, Smeets R, Stockler-Ipsiroglu S, Mandel H, Sengers R, Trijbels F, van den Heuvel L (2001) Mutations in the complex I NDUFS2 gene of pa-tients with cardiomyopathy and encephalomyopathy. Ann Neurol 49:195-201PubMedGoogle Scholar
  73. 73. Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L (1998) The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet 63:1598-1608PubMedGoogle Scholar
  74. 74. Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N (2001) The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 29:337-341PubMedGoogle Scholar
  75. 75. Manthey GM, McEwen JE (1995) The product of the nuclear gene PET309 is required for translation of mature mRNA and stability or production of intron-containing RNAs de-rived from the mitochondrial COX1 locus of Saccharomyces cerevisiae. EMBO J 14:4031-4043PubMedGoogle Scholar
  76. 76. Mikolajczyk S, Brody S (1990) De novo fatty acid synthesis mediated by acyl-carrier pro-tein in Neurospora crassa mitochondria. Eur J Biochem 187:431-437PubMedGoogle Scholar
  77. 77. Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Ville-neuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES (2003) Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci USA 100:605-610PubMedGoogle Scholar
  78. 78. Muhlenhoff U, Richhardt N, Ristow M, Kispal G, Lill R (2002) The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins. Hum Mol Genet 11:2025-2036PubMedGoogle Scholar
  79. 79. Murray J, Zhang B, Taylor SW, Oglesbee D, Fahy E, Marusich MF, Ghosh SS, Capaldi RA (2003) The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. J Biol Chem 278:13619-13622PubMedGoogle Scholar
  80. 80. Nicholls DG (2002) Mitochondrial function and dysfunction in the cell: its relevance to aging and aging-related disease. Int J Biochem Cell Biol 34:1372-1381PubMedGoogle Scholar
  81. 81. Nijtmans LG, Klement P, Houstek J, Van den Bogert C (1995) Assembly of mitochondrial ATP synthase in cultured human cells: implications for mitochondrial diseases. Bio-chim Biophys Acta 1272:190-198Google Scholar
  82. 82. Nijtmans LG, Taanman JW, Muijsers AO, Speijer D, Van den Bogert C (1998) Assembly of cytochrome-c oxidase in cultured human cells. Eur J Biochem 254:389-394PubMedGoogle Scholar
  83. 83. Nishino I, Spinazzola A, Hirano M (1999) Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283:689-692PubMedGoogle Scholar
  84. 84. Nobrega FG, Nobrega MP, Tzagoloff A (1992) BCS1, a novel gene required for the expres-sion of functional Rieske iron-sulfur protein in Saccharomyces cerevisiae. EMBO J 11:3821-3829PubMedGoogle Scholar
  85. 85. Ohnishi T (1998) Iron-sulfur clusters/semiquinones in complex I. Biochim Biophys Acta 1364:186-206PubMedGoogle Scholar
  86. 86. Oudshoorn P, Van Steeg H, Swinkels BW, Schoppink P, Grivell LA (1987) Subunit II of yeast QH2:cytochrome-c oxidoreductase. Nucleotide sequence of the gene and features of the protein. Eur J Biochem 163:97-103PubMedGoogle Scholar
  87. 87. Oyedotun KS, Lemire BD (2001) The Quinone-binding sites of the Saccharomyces cere-visiae succinate-ubiquinone oxidoreductase. J Biol Chem 276:16936-16943PubMedGoogle Scholar
  88. 88. Papa S (2002) The NDUFS4 nuclear gene of complex I of mitochondria and the cAMP cas-cade. Biochim Biophys Acta 1555:147-153PubMedGoogle Scholar
  89. 89. Parfait B, Chretien D, Rotig A, Marsac C, Munnich A, Rustin P (2000) Compound het-erozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. Hum Genet 106:236-243PubMedGoogle Scholar
  90. 90. Paumard P, Vaillier J, Coulary B, Schaeffer J, Soubannier V, Mueller DM, Brethes D, di Rago JP, Velours J (2002) The ATP synthase is involved in generating mitochondrial cristae morphology. EMBO J 21:221-230PubMedGoogle Scholar
  91. 91. Poulton J, Deadman ME, Gardiner RM (1989) Duplications of mitochondrial DNA in mi-tochondrial myopathy. Lancet 1:236-240PubMedGoogle Scholar
  92. 92. Raha S, Robinson BH (2002) Mitochondria, oxygen free radicals, disease and ageing. Trends Biochem Sci 25:502-508Google Scholar
  93. 93. Rich P (2003) Chemiosmotic coupling: The cost of living. Nature 421:583PubMedGoogle Scholar
  94. 94. Rieske JS, Hansen RE, Zaugg WS (1964) Studies on the electron transfer system. LVIII. Properties of a new oxidation-reduction component of the respiratory chain as studied by electron paramagnetic resonance spectroscopy. J Biol Chem 239:3017-3022PubMedGoogle Scholar
  95. 95. Robinson BH (1998) Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect. Biochim Biophys Acta 1364:271-286PubMedGoogle Scholar
  96. 96. Roesch K, Curran SP, Tranebjaerg L, Koehler CM (2002) Human deafness dystonia syn-drome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. Hum Mol Genet 11:477-486PubMedGoogle Scholar
  97. 97. Runswick MJ, Fearnley IM, Skehel JM, Walker JE (1991) Presence of an acyl carrier pro-tein in NADH:ubiquinone oxidoreductase from bovine heart mitochondria. FEBS Lett 286:121-124PubMedGoogle Scholar
  98. 98. Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O (2001) Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 29:342-344PubMedGoogle Scholar
  99. 99. Schägger H (2002) Respiratory chain supercomplexes of mitochondria and bacteria. Bio-chim Biophys Acta 1555:154-159Google Scholar
  100. 100. Schägger H, Link TA, Engel WD, von Jagow G (1986) Isolation of the eleven protein sub-units of the bc1 complex from beef heart. Methods Enzymol 126:224-237PubMedGoogle Scholar
  101. 101. Schägger H, Noack H, Halangk W, Brandt U, von Jagow G (1995) Cytochrome-c oxidase in developing rat heart. Enzymic properties and amino-terminal sequences suggest identity of the fetal heart and the adult liver isoform. Eur J Biochem 230:235-241PubMedGoogle Scholar
  102. 102. Schägger H, Pfeiffer K (2000) Supercomplexes in the respiratory chains of yeast and mammalian mitochondria. EMBO J 19:1777-1783PubMedGoogle Scholar
  103. 103. Schägger H, Pfeiffer K (2001) The ratio of oxidative phosphorylation complexes I-V in bo-vine heart mitochondria and the composition of respiratory chain supercomplexes. J Biol Chem 276:37861-37867PubMedGoogle Scholar
  104. 104. Schneider R, Brors B, Massow M, Weiss H (1997) Mitochondrial fatty acid synthesis: a relic of endosymbiontic origin and a specialized means for respiration. FEBS Lett 407:249-252PubMedGoogle Scholar
  105. 105. Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, Stockler-Ipsiroglu S, van den Heuvel L (1999) Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nat Genet 21:260-261PubMedGoogle Scholar
  106. 106. Schulte U, Fecke W, Krull C, Nehls U, Schmiede A, Schneider R, Ohnishi T, Weiss H (1994) In vivo dissection of the mitochondrial respiratory NADH: ubiquinone oxi-doreductase (complex I). Biochim Biophys Acta 1187:121-124PubMedGoogle Scholar
  107. 107. Schulte U, Haupt V, Abelmann A, Fecke W, Brors B, Rasmussen T, Friedrich T, Weiss H (1999) A reductase/isomerase subunit of mitochondrial NADH:ubiquinone oxi-doreductase (complex I) carries an NADPH and is involved in the biogenesis of the complex. J Mol Biol 292:569-580PubMedGoogle Scholar
  108. 108. Senoo-Matsuda N, Hartman PS, Akatsuka A, Yoshimura S, Ishii N (2003) A complex II defect affects mitochondrial structure, leading to ced-3- and ced-4-dependent apoptosis and aging. J Biol Chem 278:22031-22036PubMedGoogle Scholar
  109. 109. Shi G, Crivellone MD, Edderkaoui B (2001) Identification of functional regions of Cbp3p, an enzyme-specific chaperone required for the assembly of ubiquinol-cytochrome c reductase in yeast mitochondria. Biochim Biophys Acta 1506:103-116PubMedGoogle Scholar
  110. 110. Smeitink J, van den Heuvel L (1999) Human mitochondrial complex I in health and dis-ease. Am J Hum Genet 64:1505-1510PubMedGoogle Scholar
  111. 111. Smeitink J, van den Heuvel L, DiMauro S (2001) The genetics and pathology of oxidative phosphorylation. Nat Rev Genet 2:342-352PubMedGoogle Scholar
  112. 112. Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, Wanrooij S, Garrido N, Comi G, Morandi L, Santoro L, Toscano A, Fabrizi GM, Somer H, Croxen R, Beeson D, Poulton J, Suomalainen A, Jacobs HT, Zeviani M, Larsson C (2001) Human mito-chondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 28:223-231PubMedGoogle Scholar
  113. 113. Steuber J, Schmid C, Rufibach M, Dimroth P (2000) Na+ translocation by complex I (NADH:quinone oxidoreductase) of Escherichia coli. Mol Microbiol 35:428-434PubMedGoogle Scholar
  114. 114. Stock D, Leslie AG, Walker JE (1999) Molecular architecture of the rotary motor in ATP synthase. Science 286:1700-1705PubMedGoogle Scholar
  115. 115. Taanman JW, Turina P, Capaldi RA (1994) Regulation of cytochrome c oxidase by inter-action of ATP at two binding sites, one on subunit VIa. Biochemistry 33:11833-11841PubMedGoogle Scholar
  116. 116. Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Ber-tini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M (1998) Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63:1609-1621PubMedGoogle Scholar
  117. 117. Triepels RH, van den Heuvel LP, Loeffen JL, Buskens CA, Smeets RJ, Rubio GM, Budde SM, Mariman EC, Wijburg FA, Barth PG, Trijbels JM, Smeitink JA (1999) Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Ann Neurol 45:787-790PubMedGoogle Scholar
  118. 118. Tsukihara T, Aoyama H, Yamashita E, Tomizaki T, Yamaguchi H, Shinzawa-Itoh K, Na-kashima R, Yaono R, Yoshikawa S (1995) Structures of metal sites of oxidized bovine heart cytochrome c oxidase at 2.8 Å. Science 269:1069-1074PubMedGoogle Scholar
  119. 119. Tsukihara T, Aoyama H, Yamashita E, Tomizaki T, Yamaguchi H, Shinzawa-Itoh K, Na-kashima R, Yaono R, Yoshikawa S (1996) The whole structure of the 13-subunit oxi-dized cytochrome c oxidase at 2.8 Å. Science 272:1136-1144PubMedGoogle Scholar
  120. 120. Tzagoloff A, Wu MA, Crivellone M (1986) Assembly of the mitochondrial membrane system. Characterization of COR1, the structural gene for the 44-kilodalton core pro-tein of yeast coenzyme QH2-cytochrome c reductase. J Biol Chem 261:17163-17169PubMedGoogle Scholar
  121. 121. Ugalde C, Triepels RH, Coenen MJ, van den Heuvel LP, Smeets R, Uusimaa J, Briones P, Campistol J, Majamaa K, Smeitink JA, Nijtmans LG (2003) Impaired complex I as-sembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. Ann Neurol. 54:665-669Google Scholar
  122. 122. Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C (2001) Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 28:211-212Google Scholar
  123. 123. Vreken P, Valianpour F, Nijtmans LG, Grivell LA, Plecko B, Wanders RJ, Barth PG (2000) Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syn-drome. Biochem Biophys Res Commun 279:378-382PubMedGoogle Scholar
  124. 124. Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ, Nikoskelainen EK (1988) Mitochondrial DNA mutation associated with Leber’s hereditary optic neu-ropathy. Science 242:1427-1430PubMedGoogle Scholar
  125. 125. Wang ZG, White PS, Ackerman SH (2001) Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria. J Biol Chem 276:30773-30778PubMedGoogle Scholar
  126. 126. Wu M, Tzagoloff A (1989) Identification and characterization of a new gene (CBP3) re-quired for the expression of yeast coenzyme QH2-cytochrome c reductase. J Biol Chem 264:11122-11130PubMedGoogle Scholar
  127. 127. Xia D, Yu CA, Kim H, Xia JZ, Kachurin AM, Zhang L, Yu L, Deisenhofer J (1997) Crys-tal structure of the cytochrome bc1 complex from bovine heart mitochondria. Science 277:60-66PubMedGoogle Scholar
  128. 128. Yankovskaya V, Horsefield R, Tornroth S, Luna-Chavez C, Miyoshi H, Leger C, Byrne B, Cecchini G, Iwata S (2003) Architecture of succinate dehydrogenase and reactive oxy-gen species generation. Science 299:700-704PubMedGoogle Scholar
  129. 129. Zhang M, Mileykovskaya E, Dowhan W (2002) Gluing the respiratory chain together. Car-diolipin is required for supercomplex formation in the inner mitochondrial membrane. J Biol Chem 277:43553-43556PubMedGoogle Scholar
  130. 130. Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM, Shoubridge EA (1998) SURF1, encoding a fac-tor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 20:337-43PubMedGoogle Scholar
  131. 131. Zickermann V, Bostina M, Hunte C, Ruiz T, Radermacher M, Brandt U (2003) Functional implications from an unexpected position of the 49-kDa subunit of NADH:ubiquinone oxidoreductase. J Biol Chem 278:29072-29078PubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin/Heidelberg 2004

Authors and Affiliations

  • Leo G.J. Nijtmans
    • 1
    Email author
  • Cristina Ugalde
    • 1
  • Lambert P. van den Heuvel
    • 1
  • Jan A.M. Smeitink
    • 1
  1. 1.Nijmegen Center for Mitochondrial Disorders at the Department of Pediatrics, University Medical Center Nijmegen, Geert Grooteplein 10, PO Box 9101, 6500 HB NijmegenThe Netherlands

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