Skip to main content
SpringerLink
Log in

Disorders of Nuclear-Mitochondrial Intergenomic Signalling

  • Published:
Journal of Bioenergetics and Biomembranes Aims and scope Submit manuscript

Abstract

In addition to sporadic or maternally-inherited mutations of the mitochondrial genome, abnormalities of mtDNA can be transmitted as mendelian traits. The latter are believed to be caused by mutations in still unknown nuclear genes, which deleteriously interact with the mitochondrial genome. Two groups of mtDNA-related mendelian disorders are known: those associated with mtDNA large-scale rearrangements and those characterized by severe reduction of the mtDNA copy number. The most frequent presentation of the first group of disorders is an adult-onset encephalomyopathy, defined clinically by the syndrome of progressive external ophthalmoplegia “plus,” genetically by autosomal dominant transmission of the trait, and molecularly by the presence of multiple deletions of mtDNA. The second group of disorders comprises early-onset, organ-specific syndromes, associated with mtDNA depletion, that are presumably transmitted as autosomal recessive traits. Linkage analysis and search for candidate genes are two complementary strategies to clarify the molecular basis of these disorders of the nuclear-mitochondrial intergenomic signalling.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

REFERENCES

  • Anderson, S., Bankier, A. T., Barrel, 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 290, 457–465.

    Google Scholar 

  • Barrientos, A., Volpini, V., Casademont, J., Genis, D., Manzanares, J. M., Ferrer, I., Cardellach, F., Urbano-Marquez, A., Estivill, X., and Nunes, V. (1996). J. Clin. Invest. 97, 1570–1576.

    Google Scholar 

  • Bodnar, A. G., Cooper, J. M., Holt, I. J., Leonard, J. V., and Schapira, A. H. V. (1993). Am. J. Hum. Genet. 53, 663–669.

    Google Scholar 

  • Bohlega, S., Tanji, K., Santorelli, F. M., Hirano, M., al-Jishi, A., and DiMauro, S. (1996). Neurology 46, 1329–1334.

    Google Scholar 

  • Bonnefoy, N., Kermorgant, M., Groudinsky, O., Mimet, M., Slonimiski, P. P., and Dujardin, G. (1994). Proc. Natl. Acad. Sci. USA 91, 11978–11982.

    Google Scholar 

  • Buroker, N. E., Brown, J. R., Gilbert, T. A., O'Hara, P. J., Beckenbach, A. T., Thomas, W. K., and Smith, M. J. (1990). Genetics 124, 157–163.

    Google Scholar 

  • Casademont, J., Barrientos, A., Cardellach, F., Rötig, A., Grau, J. M., Montoya, J., Beltran, B., Cervantes, F., Rozman, C., Estivill, X., Urbano-Marquez, A., and Nunes, V. (1994). Hum. Mol. Genet. 3, 1945–1949.

    Google Scholar 

  • Chapman, R. W., Stephens, J. C., Lansmann, R. A., and Avise, J. C. (1982), Genet. Res. 40, 41–57.

    Google Scholar 

  • Ciafaloni, E., Shanske, S., Apostolski, S., Griggs, R. L., Bird, T. D., Sumi, M., and DiMauro, S. (1991). Neurology (Suppl 1), 41, 207 (abstr.).

    Google Scholar 

  • Clayton, D. A. (1982). Cell 28, 693–705.

    Google Scholar 

  • Cormier, V., Rotig, A., Tardieu, M., Colonna, M., Saudubray, J.-M., and Munnich, A. (1991). Am. J. Hum. Genet. 48, 643–648.

    Google Scholar 

  • Corral-Debrinski, M., Horton, T., Lott, M. T., Shoffner, J. M., Beal, M. F., and Wallace, D. C. (1992). Nature Genet. 2, 324–9.

    Google Scholar 

  • Cortopassi, G. A., and Arnheim, N., (1990). Nucleic Acids Res. 18, 6927–6933.

    Google Scholar 

  • Dalakas, M. C., Illa, I., Pezeshpour, G. H., Laukaitis, J. P., Cohen, B., and Griffin, J. L. (1990). N. Engl. J. Med. 322, 1098–1105.

    Google Scholar 

  • de Zamaroczy, M., Faugeron-Fonty, G., and Bernardi, G. (1983). Gene 21, 193–202.

    Google Scholar 

  • Greenberg, B. D., Newbold, J. E., and Sugino, A., (1983). Gene 21, 33–49.

    Google Scholar 

  • Gross, S. R., Hsieh, T., and Levine, P. H. (1984). Cell 38, 233–239.

    Google Scholar 

  • Haltia, M., Suomalainen, A., Majander, A., and Somer, H. (1992). Brain Pathol. 2, 133–139.

    Google Scholar 

  • Hammans, S. R., Sweeny, M. G., Wicks, D. A. G., Morgan-Hughes, J. A., and Harding, A. E. (1992). Brain 115, 343–365.

    Google Scholar 

  • Harman, D. (1981). Proc. Natl. Acad. Sci. USA 78, 7124–7128.

    Google Scholar 

  • Hauswirth, W. W., Van De Walle, M. J., Laipis, P. J., and Olivo, P. D. (1984). Cell, 37, 1001–1007.

    Google Scholar 

  • Hirano, M., Silvestri, G., Blake, D. M., Lombes, A., Minetti, C., Bonilla, E., Hays, A. P., Lovelace, R. E., Butler, I., Brtorini, T. E., Threlkeld, A. B., Mitsumoto, H., Salberg, L. M., Rowland, L. P., and DiMauro, S. (1994). Neurology 44, 721–727.

    Google Scholar 

  • Holt, I. J., Harding, A. E., and Morgan-Hughes, J. A. (1989). Nucleic Acids Res. 17, 4465–4469.

    Google Scholar 

  • Izuta, S., Saneyoshi, M., Sakurai, T., Suzuki, M., Kojima, K., and Yoshida, S. (1991). Biochem. Biophys. Res. Commun. 179, 776–83.

    Google Scholar 

  • Kaukonen, J. A. Amati, P., Suomalainen, A., Rotig, A., Piscaglia, M.-G., Salvi, F., Weissenbach, J., Fratta, G., Comi, G., Peltonen, L., and Zeviani, M. (1996). Am. J. Hum. Genet. 58, 763–769.

    Google Scholar 

  • Larsson, N. G., and Clayton, D. A., (1995). Annu. Rev. Genet. 29, 151–178.

    Google Scholar 

  • Larsson, N. G., Oldfors, A., Holme, E., and Clayton, D. A. (1994). Biochem. Biophys. Res. Commun. 200, 1374–1381.

    Google Scholar 

  • Mariotti, C., Uziel, G., Carrara, F., Mora, M., Prelle, A., Tiranti, V., DiDonato, S., and Zeviani, M. (1995). J. Neurol. 242, 547–556.

    Google Scholar 

  • Mazziotta, M. R. M., Ricci, E., and Bertini, E. (1992). J. Pediatr. 121, 896–901.

    Google Scholar 

  • Melberg, A., Lundberg, P. O., Henriksson, K. G., Y. Olsson, Y., and Stalberg, E. (1996). Muscle Nerve 19, 751–757.

    Google Scholar 

  • Mita, S., Rizzuto, R., Moraes, C. T., Shanske, S., Arnaudo, E., Fabrizi, G. M., Koga, Y., DiMauro, S., and Schon, E. A. (1990). Nucleic Acids Res. 18, 561–567.

    Google Scholar 

  • Mizusawa, H., Watanabe, M., Kanazawa, I., Nakanishi, T., Kobayashi, M., Tanaka, M., Suzuki, H., Nishikimi M., and Ozawa T. (1988). J. Neurol. Sci. 86, 171–184.

    Google Scholar 

  • 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., Brownell, A. K. W., Schmidt, B., Schotland, D. L., Zupanc, M., DeVivo, D. C., Schon, E. A., and Rowland, L. P. (1989). N. Engl. J. Med. 320, 1293–99.

    Google Scholar 

  • Moraes, C. T., Shanske, S., Tritschler, H-J., Aprille, J. R., Andreetta, F., Bonilla, E., Schon, E. A., and DiMauro, S. (1991). Am. J. Hum. Genet. 48, 492–501.

    Google Scholar 

  • Moraes, C. T., Ricci, E., Petruzzella, V., Shanske, S., DiMauro, S., Schon, E. A., and Bonilla, E. (1992). Nature Genet. 1, 359–367.

    Google Scholar 

  • Moritz, C., and Brown, W. M. (1987). Proc. Natl. Acad. Sci. USA 84, 7183–7187.

    Google Scholar 

  • Moslemi, A.-R., Melberg, A., Holme, E., and Oldfors, A. (1996). Ann. Neurol. 40, 707–713.

    Google Scholar 

  • Ohno, K., Tanaka, M., Sahashi, K., Ibi, T., Sato, W., Yamamoto, T., Takahashi, A., and Ozawa, T. (1991). Ann. Neurol. 29, 364–369.

    Google Scholar 

  • Oldfors, A., Larsson, N-G., Lindberg, C., and Holme, E. (1993). Brain 116, 325–336.

    Google Scholar 

  • Parisi, M. A. and Clayton, D. A. (1991). Science 252, 965–969.

    Google Scholar 

  • Pikò, L., and Taylor, K. D. (1987). Dev. Biol. 123, 364–74.

    Google Scholar 

  • Pikò, L., Hougham, A. J., and Bulpitt, K. J. (1988). Mech. Aging Dev. 43, 279–293.

    Google Scholar 

  • Powers, T. O., Platzer, E. G., and Hyman, B. C., (1986). Curr. Genet. 11, 71–77.

    Google Scholar 

  • Prelle, A., Moggio, M., Checcarelli, N., Comi, G., Bresolin, N., Battistel, A., Bordoni, A., and Scarlato, G. (1993). J. Neurol. Sci. 117, 24–27.

    Google Scholar 

  • Ropp, P. A., and Copeland, W. C. (1996). Genomics 36, 449–458.

    Google Scholar 

  • Santorelli, F. M., Sciacco, M., Tanji, K., Shanske, S., Vu, T. H., Golzi, V., Griggs, R. C., Mandell, J. R., Hays, A. P., Bertorini, T. E., Pestronk, A., Bonilla, E., and DiMauro, S. (1996). Ann. Neurol. 39, 789–795.

    Google Scholar 

  • Sato, W., Tanaka, M., Ohno, K., Yamamoto, T., Takada, G., and Ozawa, T. (1989). Biochem. Biophys. Res. Commun. 182, 664–672.

    Google Scholar 

  • Schon, E. A., Rizzuto, R., Moraes, C. T., Nakase, H., Zeviani, M., and DiMauro, S. (1989). Science 244, 346–349.

    Google Scholar 

  • Servidei, S., Zeviani, M., Manfredi, G., Ricci, E., Silvestri, G., Bertini, E., Gellera, C., DiMauro, S., DiDonato, S., and Tonali, P. (1991). Neurology 41, 1053–1059.

    Google Scholar 

  • Shoffner, J. M., Lott, M. T., Voljavec, A. S., Soueidan, S. A., Costigan, D. A., and Wallace, D. C. (1989). Proc. Natl. Acad. Sci. USA 86, 7952–7956.

    Google Scholar 

  • Shoubridge, E. A., Karpati, G., and Hastings (1990). Cell 62, 43–49.

    Google Scholar 

  • Soong, N. W., Hinton, D. R., Cortopassi, G., and Arnheim, N. (1992). Nature Genet. 2, 318–23.

    Google Scholar 

  • Suomalainen, A., Majander, A., Haltia, M., Somer, H., Lonnqvist, J., Savontaus, M. L., and Peltonen, L. (1992a). J. Clin. Invest. 90, 61–66.

    Google Scholar 

  • Suomalainen, A., Paetau, A., Leinonen, H., Majander, A., Peltonen, L., and Somer, H. (1992b). Lancet 340, 1319–1320.

    Google Scholar 

  • Suomalainen, A., Kaukonen, J., Amati, P., Timonen, R., Haltia, M., Weissenbach, J., Zeviani, M., Somer, H., and Peltonen, L. (1995). Nature Genet. 9, 146–151.

    Google Scholar 

  • Takahata, N., and Maruyama, T. (1981). Genet. Res. 37, 291–302.

    Google Scholar 

  • Takei, Y., Ikeda, S., Yanagisawa, N., Takahashi, W., Sekiguchi, M., and Hayashi, T. (1995). Muscle Nerve 18, 1321–1325.

    Google Scholar 

  • Tiranti, V., Rocchi, M., DiDonato, S., and Zeviani, M. (1993), Gene 126, 219–225.

    Google Scholar 

  • 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). Neurology 42, 209–217.

    Google Scholar 

  • Turker, M. S., Domenico, J. M., and Cummings, D. J. (1987). J. Biol. Chem. 262, 2250–2255.

    Google Scholar 

  • Upholt, W. B., and Dawid, I. B. (1977). Cell. 11, 571–583.

    Google Scholar 

  • Ville-Ferlin, T., Dumoulin, R., Stepien, G., Matha, V., Bady, B., Flocard, F., Carrier, H., Matthiew, M., and Mousson, B. (1995). Mol. Cell Probes 9, 207–214.

    Google Scholar 

  • Wallace, D. C. (1987). Maternal genes: mitochondrial diseases. Birth Defects. 23, 137–190.

    Google Scholar 

  • Yuzaki, M., Ohkoshi, N., Kanazawa, I., Kagava, Y., and Ohta, S. (1989). Biochem. Biophys. Res. Commun. 164, 1352–1357.

    Google Scholar 

  • Zeviani, M., Moraes, C. T., DiMauro, S., Nakase, H., Bonilla, E., Schon, E. A., and Rowland, L. P. (1988). Neurology 38, 1339–1346.

    Google Scholar 

  • Zeviani, M., Servidei, S., Gellera, C., Bertini, E., DiMauro, S., and DiDonato, S. (1989). Nature 339, 309–311.

    Google Scholar 

  • Zeviani, M., Bresolin, N., Gellera, C., Bordoni, A., Pannacci, M., Amati, P., Moggio, M., Servidei, S., Scarlato, G., and DiDonato, S. (1990). Am. J. Hum. Genet. 47, 904–914.

    Google Scholar 

  • Zeviani, M., Bertagnolio, B., and Uziel, G. (1996). J. Inher. Metab. Dis. 19, 504–520.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Unit of Molecular Medicine, Children's Hospital “Bambino Gesù,€, Piazza S. Onofrio 4, Roma, 00165, Italy

    Massimo Zeviani & Vittoria Petruzzella

  2. National Neurological Institute “C Besta,€, via Celoria 11, Milano, 20133, Italy

    Massimo Zeviani & Rosalba Carrozzo

Authors
  1. Massimo Zeviani
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Vittoria Petruzzella
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Rosalba Carrozzo
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Zeviani, M., Petruzzella, V. & Carrozzo, R. Disorders of Nuclear-Mitochondrial Intergenomic Signalling. J Bioenerg Biomembr 29, 121–130 (1997). https://doi.org/10.1023/A:1022633912917

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/A:1022633912917

Search

Navigation