Abstract
Oxidative phosphorylation (OXPHOS) is a genetically unique metabolic pathway, as it is the product of the complementation of two distinct genetic systems, the nuclear and the mitochondrial genomes (Attardi and Schatz, 1988). Nuclear genes encode most of the protein components of the respiratory chain complexes, the factors controlling the cytoplasm-mitochondrial protein trafficking, as well as those carrying out and controlling the maintenance, propagation, and transcription of mtDNA. The latter provides the genetic information for only 13 proteins that are essential components of four of the five respiratory chain complexes and for the RNA components of the mitochondrial autochthonous translational apparatus (Anderson et al., 1981). The dual genetic control of OXPHOS accounts for the existence of three groups of human OXPHOS-related disorders: (1) sporadic or maternally inherited disorders due to mtDNA mutations; (2) biochemically or genetically defined disorders due to defects of OXPHOS-related nuclear genes; and (3) nucleusdriven mutations of mitochondrial DNA (mtDNA).
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Anderson, S., Bankier, A. T., Barrel, B. G., de Bruijin, 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, Sequence and organization of the human mitochondrial genome, Nature 290:457–465.
Ashley, M. V., Laipis P. J., and Hauswirth, W. W., 1981, Rapid segregation of heteroplasmic bovine mitochondria, Nucleic Acids Res. 17:7325–7331.
Attardi, G., and Schatz, G., 1988, Biogenesis of mitochondria, Annu. Rev. Cell Biol. 4:289–333.
Bakker, H. D., Scholte, H. R., Dingemans, K. P., Spelbrink, J. N., Wijkbur, F. A., and Van den Bogert, C., 1996, Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease, J. Pediatr. 128:683–687.
Barrientos, A., Casademont, J., Saiz, F., Cardellach, F., Volpini, V., Solans, A., Tolosa, E., Urbano-Marquez, A., Estivili, X., and Nunes, V., 1996, Autosomal recessive Wolfram syndrome associated with an 8.5 kb mtDNA single deletion, Am. J. Hum. Genet. 58:963–970.
Bodnar, A. G., Cooper, J. M., Holt, I. J., Leonard, J. V., and Schapira, A. H. V., 1993, Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion, Am. J. Hum. Genet. 53:663–669.
Bodnar, A. G., Cooper, J. M., Leonard, J. V., and Schapira, A. H. V., 1995, Respiratory deficient human fibroblasts exhibiting defective mitochondrial DNA replication, Biochem. J. 305: 817–822.
Bohlega, S., Tanji, K., Santorelli, F. M., Hirano, M., al-Jishi, A., and Di Mauro, S., 1996, Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy, Neurology 46:1329–1334.
Bourgeron, T., Rustin, P., Chretien, D., Birch-Machin, M., Bourgeois, M., Viegas-Péquinot, E., Munnich, A. and Rötig, A., 1995, Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency, Nature Genet. 11:144–149.
Brown, R. M., and Brown, G. K., 1996, Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome, J. Inherit. Dis. 19:752–760.
Chapman, R. W., Stephens, J. C., Lansmann, R. A., and Avise, J. C., 1982, Models of mitochondrial DNA transmission genetics and evolution in higher eukaryotes. Genet. Res. 40:41–57.
Coté, J., and Ruiz-Carrillo, A., 1993, Primers for mitochondrial DNA replication generated by endonuclease G, Science 261:765–769.
DiMauro, S., and Moraes, C. T., 1993, Mitochondrial encephalomyopathies, Arch. Neurol. 50:1197–1208.
Fernandez-Silva, P., Martinez-Azorin, F., Micol, V., and Attardi, G., 1997, The human mitochondrial transcription factor (mTERF) is a multizipper protein but binds to DNA as a monomer, with evidence pointing to intramolecular leucine zipper interactions, EMBO J. 16:1066–1079.
Greenberg, B. D., Newbold, J. E., and Sugino, A., 1983, Intraspecific nucleotide sequence variability surrounding the origin of replication in human mitochondrial DNA, Gene 21:33–49.
Harman, D., 1994, Free-radical theory of aging. Increasing the functional life span, Ann. NY Acad. Sci. 717:1–15.
Holt, I. J., Harding, A. E., Cooper, J. M., Schapira, A. H. V., Toscano, A., Clark, J. B. and Morgan-Hughes, J. A., 1989, Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA, Ann. Neurol. 26:699–708.
Kaukonen, J. A., Amati, P., Suomalainen, A., Rötig, A., Piscaglia, M. G., Salvi, F., Weissenbach, J., Fratta, G., Comi, G., Peltonen, L., and Zeviani, M., 1996, An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p, Am. J. Hum. Genet. 58:763–769.
King, M., and Attardi, G., 1989, Human cells lacking mitochondrial DNA: Repopulation with exogenous mitochondria by complementation, Science 246:500–503.
Larsson N. G., Oldfors, A., Holme, E., and Clayton, D. A., 1994, Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion, Biochem. Biophys. Res. Commun. 200:1374–1381.
Mariotti, C., Uziel, G., Carrara, F., Mora, M., Prelle, A., Tiranti, V., DiDonato, S., and Zeviani, M., 1995, Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: A morphological, biochemical and molecular-genetic study, J. Neurol. 242:547–556.
Mita, S., Rizzuto, R., Moraes, C. T., Shanske, S., Arnaudo, E., Fabrizi, G. M., Koga, Y., DiMauro, S., and Schon, E. A., 1990, Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA, Nucleic Acids Res. 18:561–567.
Moraes, C. T., DiMauro, S., Zeviani, M., Lombes, A., Shanske, S., Miranda, A. F., Nakase, H, Bonilla, E., Werneck, L. C., Servidei, S., Nonaka, I., Koga, Y., Spiro, A. J., Bromwell, K. W., Schmidt, B., Schotland, D. L., Zupanc, M., DeVivo, D. C., Schon, E. A., and Rowland, L. P., 1989, Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome, N. Engl. J. Med. 320:1293–1299.
Moraes, C. T., Shanske, S., Tritschler, H.-J., Aprille, J. R., Andreetta, F., Bonilla, E., Schon, E. A., and DiMauro, S., 1991, mtDNA depletion with variable tissue expression: A noval genetic abnormality in mitochondrial diseases, Am. J. Hum. Genet. 48:492–501.
Morris, A. A. M., Leonard, J. V., Brown, G. K., Bidouki, S. K., Bindoff, L. A., Woodward, C. E., Harding, A. E., Lake, B. D., Harding, B. N., Farrell, M. A., Bell, J. E., Mirakhur, M., and Turnbull, D. M., 1996, Deficiency of respiratory chain complex I is a common cause of Leigh disease, Ann. Neurol. 40:25–30.
Moslemi, A.-R., Melberg, A., Holme, E., and Oldfors, A., 1996, Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia, Ann. Neurol. 40:707–713.
Munaro, M., Tiranti, V., Sandonà, D., Lamantea, E., Uziel, G., Bisson, R., and Zeviani, M., 1997, A single cell complementation class is common to several cases of cytochrome c oxidase defective Leigh’s syndrome, Hum. Mol. Genet. 6:221–228.
Parisi, A. M., and Clayton, D. A., 1991, Similarity of human mitochondrial transcription factor 1 to high mobility group proteins, Science 252:965–969.
Rahman, S., Blok, R. B., Dahl, H.-H. M., Danks, D. M., Kirby, D. M., Chow, C. W., Christodoulou, J., and Thorburn, D. R., 1996, Leigh syndrome: Clinical features and DNA abnormalities, Ann. Neurol. 39:343–351.
Ropp, P. A., and Copeland, W. C., 1996, Mitochondrial DNA polymerase gamma is expressed and translated in the absence of mitochondrial DNA maintenance and replication, Nucleic Acids Res. 24:2753–2759.
Servidei, S., Zeviani, M., Manfredi, G., Ricci, E., Silvestri, G., Bertini, E., Gellera, C., DiMauro, S., DiDonato, S., and Tonali, F., 1991, Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: Clinical, morphologic, and biochemical studies, Neurology 41:1053–1059.
Suomalainen, A., Majander, A., Haltia, M., Somer, H., Lonnqvist, J., Savontaus, M. L., and Peltonen, L., 1992, Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia, J. Clin. Invest. 90:61–66.
Suomalainen, A., Kaukonen, J. A., Amati, P., Timonen, R., Haltia, M., Weissenbach, J., Zeviani, M., Somer, H., and Peltonen, L., 1995, An autosomal locus predisposing to deletions of mitochondrial DNA, Nature Genet. 9:146–151.
Takahata, N., and Maruyama, T., 1981, A mathematical model of extranuclear genes and genetic variability maintained in finite population, Genet. Res. 37:291–302.
Tiranti, V., Rocchi, M., DiDonato, S., and Zeviani, M., 1993, Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB), Gene 126:219–225.
Tiranti, V., Munaro, M., Sandonà, D., Lamantea, E., Rimoldi, M., DiDonato, S., Bisson, R., and Zeviani, M., 1995, Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh syndrome: Genetic evidence based on patient’s derived rho0 transformants, Hum. Mol. Genet. 4:2017–2023.
Tiranti, V., Savoia, A., Forti, F., D’Apolito, M.-F, Centra, M., Rocchi, M., and Zeviani, M., 1997, Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the expressed sequence tags database, Hum. Mol. Genet. 6:615–625.
Tritschler, H.-J., Bonilla, E., Lombes, A., Andreetta, F., Servidei, S., Schneyder, B., Miranda, A. F, Schon, E. A., Kadenbach, B., and DiMauro, S., 1991, Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: An immunohistochemical approach, Neurology 41:300–305.
Tritschler, H.-J., Andreetta, F., Moraes, C. T., Bonilla, E., Arnaudo, E., Danon, M. J., Glass, S., Zelaya, B. M., Vamos, E., Telerman-Toppet, N., Shanske, S., Kadenbach, B., DiMauro, S., and Schon, E. A., 1992, Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA, Neurology 42:209–217.
Upholt, W. B., and Dawid, I. B., 1977, Mapping of mitochondrial DNA of individual sheep and goats: Rapid evolution in the D-loop region. Cell 11:571–583.
Zeviani, M., Peterson, P., Servidei, S., Bonilla, E., and DiMauro, S., 1987, Benign reversible muscle cytochrome c oxidase deficiency: A second case, Neurology 37:64–67.
Zeviani, M., Servidei, S., Gellera, C., Bertini, E., DiMauro, S., and DiDonato, S., 1989, An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region, Nature 339:309–311.
Zeviani, M., Bresolin, N., Gellera, C., Bordoni, A., Pannacci, M., Amati, P., Moggio, M., Servidei, S., Scarlato, G., and DiDonato, S., 1990, Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: A new autosomal dominant disease, Am. J. Hum. Genet. 47: 904–914.
Zeviani, M., Fernandez, P., and Tiranti, V., 1997, Disorders of mitochondria and related metabolism, Curr. Opin. Neurol. 10:160–167.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1999 Springer Science+Business Media New York
About this chapter
Cite this chapter
Zeviani, M., Petruzzella, V., Munaro, M., Forti, F. (1999). Nucleus-Driven Lesions of mtDNA and Disorders of Nucleus-Encoded Energy Genes. In: Papa, S., Guerrieri, F., Tager, J.M. (eds) Frontiers of Cellular Bioenergetics. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-4843-0_29
Download citation
DOI: https://doi.org/10.1007/978-1-4615-4843-0_29
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4613-7196-0
Online ISBN: 978-1-4615-4843-0
eBook Packages: Springer Book Archive