Respiratory chain defects: What do we know for sure about their consequences in vivo?

Biochimica et Biophysica Acta - Bioenergetics

Volumn 1659, Issue 2-3, 2004, Pages 172-177

  Brière, Jean Jacques ^a   Chrétien, Dominique ^a   Bénit, Paule ^a   Rustin, Pierre ^a  

^a INSERM   (France)

Author keywords

ATP; Metabolism; Mitochondrial disease; Respiratory chain; Succinate; Superoxide

Indexed keywords

ADENOSINE TRIPHOSPHATE; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; PROTEIN DERIVATIVE; SUPEROXIDE;

ALPHA CHAIN; BIOACCUMULATION; CONFERENCE PAPER; DNA DETERMINATION; GENE DELETION; GENE MUTATION; GENETIC CODE; HUMAN; IN VIVO CULTURE; METABOLIC REGULATION; MITOCHONDRIAL RESPIRATION; MOLECULAR MECHANICS; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN DEPLETION; SIGNAL TRANSDUCTION;

ADENOSINE TRIPHOSPHATE; CELL RESPIRATION; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; SIGNAL TRANSDUCTION; SUCCINIC ACID; SUPEROXIDES;

EID: 9644276918     PISSN: 00052728     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbabio.2004.07.002     Document Type: Conference Paper

References (36)

1. M. Zeviani, and V. Carelli Mitochondrial disorders Curr. Opin. Neurol. 16 2003 585 594
2. J. Finsterer Mitochondriopathies Eur. J. Neurol. 11 2004 163 186
3. P.F. Chinnery New approaches to the treatment of mitochondrial disorders Reprod. Biomed. Online 8 2004 16 23
4. R.W. Taylor, P.F. Chinnery, D.M. Turnbull, and R.N. Lightowlers Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids Nat. Genet. 15 1997 212 215
5. A. McGregor, P.M. Smith, G.F. Ross, R.W. Taylor, D.M. Turnbull, and R.N. Lightowlers Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase gamma in vitro is not impaired Biochim. Biophys. Acta 1629 2003 73 83
6. T. Taivassalo, E.A. Shoubridge, J. Chen, N.G. Kennaway, S. DiMauro, D.L. Arnold, and R.G. Haller Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects Ann. Neurol. 50 2001 133 141
7. A. Rotig, E.L. Appelkvist, V. Geromel, D. Chretien, N. Kadhom, P. Edery, M. Lebideau, G. Dallner, A. Munnich, L. Ernster, and P. Rustin Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency Lancet 356 2000 391 395
8. P. Rustin Frataxin and mitochondrial iron D.M. Templeton Molecular and Cellular Iron Transport 2002 Marcel Dekker New York 255 272
9. A.O. Hausse, Y. Aggoun, D. Bonnet, D. Sidi, A. Munnich, A. Rotig, and P. Rustin Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia Heart 87 2002 346 349
10. D.C. Wallace Diseases of the mitochondrial DNA Ann. Rev. Biochem. 61 1992 1175 1212
11. D. Tyler The Mitochondria in Health and Disease 1992 VCH Publishers New York
12. A. Majander, K. Huoponen, M.L. Savontaus, E. Nikoskelainen, and M. Wikstrom Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON) FEBS Lett. 292 1991 289 292
13. T. Bourgeron, D. Chretien, J. Poggi-Bach, S. Doonan, D. Rabier, P. Letouze, A. Munnich, A. Rotig, P. Landrieu, and P. Rustin Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency J. Clin. Invest. 93 1994 2514 2518
14. T. Bourgeron, P. Rustin, D. Chretien, M. Birch-Machin, M. Bourgeois, E. Viegas-Pequignot, A. Munnich, and A. Rotig Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency Nat. Genet. 11 1995 144 149
15. P. Benit, S. Lebon, M. Chol, I. Giurgea, A. Rotig, and P. Rustin Mitochondrial NADH oxidation deficiency in humans Curr. Genomics 5 2004 137 146
16. -), superoxide dismutases, and related matters J. Biol. Chem. 272 1997 18515 18517
17. V. Geromel, N. Kadhom, I. Cebalos-Picot, O. Ouari, A. Polidori, A. Munnich, A. Rotig, and P. Rustin Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA Hum. Mol. Genet. 10 2001 1221 1228
18. J. Wang, J.P. Silva, C.M. Gustafsson, P. Rustin, and N.G. Larsson Increased in vivo apoptosis in cells lacking mitochondrial DNA gene expression Proc. Natl. Acad. Sci. U. S. A. 98 2001 4038 4043
19. L. Sorensen, M. Ekstrand, J.P. Silva, E. Lindqvist, B. Xu, P. Rustin, L. Olson, and N.G. Larsson Late-onset corticohippocampal neurodepletion attributable to catastrophic failure of oxidative phosphorylation in MILON mice J. Neurosci. 21 2001 8082 8090
20. D. Simon, H. Seznec, A. Gansmuller, N. Carelle, P. Weber, D. Metzger, P. Rustin, M. Koenig, and H. Puccio Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia J. Neurosci. 24 2004 1987 1995
21. G. Fiermonte, L. Palmieri, S. Todisco, G. Agrimi, F. Palmieri, and J.E. Walker Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms J. Biol. Chem. 277 2002 19289 19294
22. B.E. Baysal On the association of succinate dehydrogenase mutations with hereditary paraganglioma Trends Endocrinol. Metab. 14 2003 453 459
23. P. Rustin Mitochondria, from cell death to proliferation Nat. Genet. 30 2002 352 353
24. P. Rustin, A. Munnich, and A. Rotig Succinate dehydrogenase and human diseases: new insights into a well-known enzyme Eur. J. Hum. Genet. 10 2002 289 291
25. C.A. Mannella, D.R. Pfeiffer, P.C. Bradshaw, Moraru II, B. Slepchenko, L.M. Loew, C.E. Hsieh, K. Buttle, and M. Marko Topology of the mitochondrial inner membrane: dynamics and bioenergetic implications IUBMB Life 52 2001 93 100
26. H. Schagger Respiratory chain supercomplexes of mitochondria and bacteria Biochim. Biophys. Acta 1555 2002 154 159
27. A. Borodich, I. Rojdestvenski, M. Cottam, J. Anderson, and G. Oquist Segregation of the photosystems in higher plant thylakoids and short- and long-term regulation by a mesoscopic approach J. Theor. Biol. 225 2003 431 441
28. N.G. Larsson, and D.A. Clayton Molecular genetic aspects of human mitochondrial disorders Annu. Rev. Genet. 29 1995 151 178
29. I. Nishino, A. Spinazzola, A. Papadimitriou, S. Hammans, I. Steiner, C.D. Hahn, A.M. Connolly, A. Verloes, J. Guimaraes, I. Maillard, H. Hamano, M.A. Donati, C.E. Semrad, J.A. Russell, A.L. Andreu, G.M. Hadjigeorgiou, T.H. Vu, S. Tadesse, T.G. Nygaard, I. Nonaka, I. Hirano, E. Bonilla, L.P. Rowland, S. DiMauro, and M. Hirano Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations Ann. Neurol. 47 2000 792 800
30. T. Kanamori, K. Nishimaki, S. Asoh, Y. Ishibashi, I. Takata, T. Kuwabara, K. Taira, H. Yamaguchi, S. Sugihara, T. Yamazaki, Y. Ihara, K. Nakano, S. Matuda, and S. Ohta Truncated product of the bifunctional DLST gene involved in biogenesis of the respiratory chain EMBO J. 22 2003 2913 2923
31. N.G. Larsson, and P. Rustin Animal models for respiratory chain disease Trends Mol. Med. 7 2001 578 581
32. G. Kroemer, B. Dallaporta, and M. Resche-Rigon The mitochondrial death/life regulator in apoptosis and necrosis Annu. Rev. Physiol. 60 1998 619 642
33. I.M. Fearnley, J. Carroll, R.J. Shannon, M.J. Runswick, J.E. Walker, and J. Hirst GRIM-19, a cell death regulatory gene product, is a subunit of bovine mitochondrial NADH:ubiquinone oxidoreductase (complex I) J. Biol. Chem. 276 2001 38345 38348
34. B.E. Baysal, R.E. Ferrell, J.E. Willett-Brozick, E.C. Lawrence, D. Myssiorek, A. Bosch, A. van der Mey, P.E. Taschner, W.S. Rubinstein, E.N. Myers, C.W. Richard 3rd, C.J. Cornelisse, P. Devilee, and B. Devlin Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma Science 287 2000 848 851
35. I.P. Tomlinson, N.A. Alam, A.J. Rowan, E. Barclay, E.E. Jaeger, D. Kelsell, I. Leigh, P. Gorman, H. Lamlum, S. Rahman, R.R. Roylance, S. Olpin, S. Bevan, K. Barker, N. Hearle, R.S. Houlston, M. Kiuru, R. Lehtonen, A. Karhu, S. Vilkki, P. Laiho, C. Eklund, O. Vierimaa, K. Aittomaki, M. Hietala, P. Sistonen, A. Paetau, R. Salovaara, R. Herva, V. Launonen, and L.A. Aaltonen Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer Nat. Genet. 30 2002 406 410
36. J.R. Gingrich, K.A. Pelkey, S.R. Fam, Y. Huang, R.S. Petralia, R.J. Wenthold, and M.W. Salter Unique domain anchoring of Src to synaptic NMDA receptors via the mitochondrial protein NADH dehydrogenase subunit 2 Proc. Natl. Acad. Sci. U. S. A. 101 2004 6237 6242