Skip to main content
SpringerLink
Log in

Mitochondrial DNA Mutations and Pathogenesis

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

Abstract

Approximately three years ago, this journal published a review on the clinical and molecular analysis of mitochondrial encephalomyopathies, with emphasis on defects in mitochondrial DNA (mtDNA). At that time, approximately 30 point mutations associated with a variety of maternally-inherited (or rarely, sporadic) disorders had been described. Since that time, almost twenty new pathogenic mtDNA point mutations have been described, and the pace of discovery of such mutations shows no signs of abating. This accumulating body of data has begun to reveal some patterns that may be relevant to pathogenesis.

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

  • Aflalo, C., and Segel, L. A. (1992). J. Theor. Biol. 158, 67–108.

    Google Scholar 

  • Anan, R., Nakagawa, M., Miyata, M., Higuchi, I., Nakao, S., Suehara, M., Osame, M., and Tanaka, H. (1995). Circulation 91, 955–961.

    Google Scholar 

  • Anderson, S., Bankier, A. T., Barrell, 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 

  • Ballinger, S. W., Shoffner, J. M., Gebhart, S., Koontz, D. A., and Wallace, D. C. (1994). Nature Genet. 7, 458–459 (letter).

    Google Scholar 

  • Ban, S.-i., Mori, N., Saito, K., Mizukami, K., Suzuki, T., and Shiraishi, H. (1992). Acta Pathol. Jpn. 42, 818–825.

    Google Scholar 

  • Bentlage, H. A. C. M. and Attardi, G. (1996). Hum. Mol. Genet. 5, 197–205.

    Google Scholar 

  • Berkovic, S. F., Andermann, F., Shoubridge, E. A., Carpenter, S., Robitaille, Y., Andermann, E., Melmed, C., and Karpati, G. (1991). Ann. Neurol. 29, 566–569.

    Google Scholar 

  • Bernes, S. M., Bacino, C., Prezant, T. R., Pearson, M. A., Wood, T. S., Fournier, P., and Fischel-Ghodsian, N. (1993). J. Pediatr. 123, 598–602.

    Google Scholar 

  • Bindoff, L. A., Howell, N., Poulton, J., McCullough, D. A., Morten, K. J., Lightowlers, R. N., Turnbull, D. M., and Weber, K. (1993). J. Biol. Chem. 268, 19559–19564.

    Google Scholar 

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

    Google Scholar 

  • Brockington, M., Sweeney, M. G., Hammans, S. R., Morgan-Hughes, J. A., and Harding, A. E. (1993). Nature Genet. 4, 67–71.

    Google Scholar 

  • Brockington, M., Alsanjari, N., Sweeney, M. G., Morgan-Hughes, J. A., Scaravilli, F., and Harding, A. E. (1995). J. Neurol. Sci. 131, 78–87.

    Google Scholar 

  • Calabresi, P. A., Silvestri, G., DiMauro, S., and Griggs, R. C. (1994). Muscle Nerve 17, 943–945.

    Google Scholar 

  • Calo, D., De Pascali, A., Sasanelli, D., Tanzariello, F., Ponzetta, M. T., Saccone, C., and Attimonelli, M. (1997). Nucleic Acids Res. 25, 200–205.

    Google Scholar 

  • Casali, C., Santorelli, F. M., D Amati, G., Bernucci, P., DeBiase, L., and DiMauro, S. (1995). Biochem. Biophys. Res. Commun. 213, 588–593.

    Google Scholar 

  • Chen, X., Prosser, R., Simonetti, S., Sadlock, J., Jagiello, G., and Schon, E. A. (1995). Am. J. Hum. Genet. 57, 239–247.

    Google Scholar 

  • Chomyn, A., Meola, G., Bresolin, N., Lai, S. T., Scarlato, G., and Attardi, G. (1991). Mol. Cell. Biol. 11, 2236–2244.

    Google Scholar 

  • Chomyn, A., Martinuzzi, A., Yoneda, M., Daga, A., Hurko, O., Johns, D., Lai, S. T., Nonaka, I., Angelini, C., and Attardi, G. (1992). Proc. Natl. Acad. Sci. USA 89, 4221–4225.

    Google Scholar 

  • Christianson, T. W., and Clayton, D. A. (1986). Proc. Natl. Acad. Sci. USA 83, 6277–6281.

    Google Scholar 

  • Ciafaloni, E., Ricci, E., Shanske, S., Moraes, C. T., Silvestri, G., Hirano, M., Simonetti, S., Angelini, C., Donati, A., Garcia, C., Martinuzzi, A., Mosewich, R., Servidei, S., Zammarchi, E., Bonilla, E., DeVivo, D. C., Rowland, L. P., Schon, E. A., and DiMauro, S. (1992). Ann. Neurol. 31, 391–398.

    Google Scholar 

  • Davidson, M., Zhang, L., Koga, Y., Schon, E. A., and King, M. P. (1995). Neurology 45, A831.

    Google Scholar 

  • De Meirleir, L., Seneca, S., Lissens, W., Schoentjes, E., and Desprechins, B. (1995). Pediatr. Neurol. 13, 242–246.

    Google Scholar 

  • de Vries, D. D., van Engelen, B. G. M., Gabreëls, F. J. M., Ruitenbeek, W., and van Oost, B. A. (1993). Ann. Neurol. 34, 410–412.

    Google Scholar 

  • de Vries, D. D., Went, L. N., Bruyn, G. W., Scholte, H. R., Hofstra, R. M. W., Bolhuis, P. A., and van Oost, B. A. (1996). Am. J. Hum. Genet. 58, 703–711.

    Google Scholar 

  • Dorner, G., and Mohnike, A. (1976). Endokrinologie 68, 121–124.

    Google Scholar 

  • Dunbar, D. R., Moonie, P. A., Swingler, R. J., Davidson, D., Roberts, R., and Holt, I. J. (1993). Hum. Mol. Genet. 2, 1619–1624.

    Google Scholar 

  • Dunbar, D. R., Moonie, P. A., Zeviani, M., and Holt, I. J. (1996). Hum. Mol. Genet. 5, 123–129.

    Google Scholar 

  • El-Schahawi, M., Santorelli, F. M., Malkin, E., Shanske, S., and DiMauro, S. (1995). J. Mol. Med. 73, B37.

    Google Scholar 

  • El-Schahawi, M., Lόpez de Munain, A., Sarrazin, A. M., Shanske, A. L., Basirico, M., Shanske, S., and DiMauro, S. (1997). Neurology 48, 453–456.

    Google Scholar 

  • Enriquez, J. A., Chomyn, A., and Attardi, G. (1995). Nature Genet. 10, 47–55.

    Google Scholar 

  • Erecinska, M., and Silver, I. A. (1989). J. Cereb. Blood Flow Metab. 9, 2–19.

    Google Scholar 

  • Erickson-Viitanen, S., Viitanen, P., Geiger, P. J., and Yang, W. C. (1982). J. Biol. Chem. 257, 14395–14404.

    Google Scholar 

  • Folgero, T., Torbergsen, T., and Oian, P. (1995). Eur. Neurol. 35, 168–171.

    Google Scholar 

  • Fromenty, B, Manfredi, G., Sadlock, J., Zhang, L., King, M. P., and Schon, E. A. (1996). Biochim. Biophys. Acta 1308, 222–230.

    Google Scholar 

  • Fromenty, B., Carrozzo, R., Shanske, S., and Schon, E. A. (1997). Am. J. Med. Genet., in press.

  • Fu, K., Hartlen, R., Johns, T., Genge, A., Karpati, G., and Shoubridge, E. A. (1996). Hum. Mol. Genet. 5, 1835–1840.

    Google Scholar 

  • Fukuhara, N., Tokigushi, S., Shirakawa, K., and Tsubaki, T. (1980). J. Neurol. Sci. 47, 117–133.

    Google Scholar 

  • Gattermann, N., Retzlaff, S., Wang, Y.-L., Berneburg, M., Heinisch, J., Wlaschek, M., Aul, C., and Schneider, W. (1996). Br. J. Haematol. 93, 845–855.

    Google Scholar 

  • Gerbitz, K. D., Paprotta, A., Jaksch, M., Zierz, S., and Drechsel, J. (1993). FEBS Lett. 321, 194–196.

    Google Scholar 

  • Goto, Y.-i., Nonaka, I., and Horai, S. (1990). Nature 348, 651–653.

    Google Scholar 

  • Goto, Y.-i., Nonaka, I., and Horai, S. (1991). Biochim. Biophys. Acta 1097, 238–240.

    Google Scholar 

  • Goto, Y.-i., Tojo, M., Tohyama, J., Horai, S., and Nonaka, I. (1992). Ann. Neurol. 31, 672–675.

    Google Scholar 

  • Goto, Y.-i., Tsugane, K., Tanabe, Y., Nonaka, I., and Horai, S. (1994). Biochem. Biophys. Res. Commun. 202, 1624–1630.

    Google Scholar 

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

    Google Scholar 

  • Hanna, M. G., Nelson, I., Sweeney, M. G., Cooper, J. M., Watkins, P. J., Morgan-Hughes, J. A., and Harding, A. E. (1995). Am. J. Hum. Genet. 56, 1026–1033.

    Google Scholar 

  • Hao, H., and Moraes, C. T. (1996). J. Biol. Chem. 271, 2347–2352.

    Google Scholar 

  • Hao, H., Manfredi, G., Clayton, D. A., and Moraes, C. T. (1997). Am. J. Hum. Genet., in press.

  • Harding, A. E., Sweeney, M. G., Miller, D. H., Mumford, C. J., Kellar-Wood, H., Menard, D., McDonald, W. I., and Compston, D. A. S. (1992). Brain 115, 979–989.

    Google Scholar 

  • Hartzog, P. E., and Cain, B. D. (1993). J. Biol. Chem. 268, 12250–12252.

    Google Scholar 

  • Hasegawa, H., Matsuoka, T., Goto, Y.-i, and Nonaka, I. (1991). Ann. Neurol. 29, 601–605.

    Google Scholar 

  • Hasegawa, H., Matsuoka, T., Goto, Y., and Nonaka, I. (1993). Acta Neuropathol. 85, 280–284.

    Google Scholar 

  • Hayashi, J.-I., Ohta, S., Kikuchi, A., Takemitsu, M., Goto, Y.-i., and Nonaka, I. (1991). Proc. Natl. Acad. Sci. USA 88, 10614–10618.

    Google Scholar 

  • Hess, J. F., Parisi, M. A., Bennett, J. L., and Clayton, D. A. (1991). Nature 351, 236–239.

    Google Scholar 

  • Hevner, R. F., Duff, R. S., and Wong-Riley, M. T. (1992). Neurosci. Lett. 138, 188–192.

    Google Scholar 

  • Hinokio, Y., Suzuki, S., Komatu, K., Ohtomo, M., Onoda, M., Matsumoto, M., Hirai, S., Sato, Y., Akai, H., Abe, K., Miyabayashi, S., Abe, R., and Toyota, T. (1995). Muscle Nerve Suppl. 3, S142–S149.

    Google Scholar 

  • Hirano, M., Ricci, E., Koenigsberger, M. R., Defendini, R., Pavlakis, S. G., DeVivo, D. C., DiMauro, S., and Rowland, L. P. (1992). Neuromusc. Disord. 2, 125–135.

    Google Scholar 

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

    Google Scholar 

  • Holme, E., Larsson, N.-G., Oldfors, A., Tulinius, M., Sahlin, P., and Stenman, G. (1993). Am. J. Hum. Genet. 52, 551–556.

    Google Scholar 

  • Holt, I. J., Harding, A. E., and Morgan-Hughes, J. A. (1988). Nature 331, 717–719.

    Google Scholar 

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

    Google Scholar 

  • Holt, I. J., Harding, A. E., Petty, R. K. H., and Morgan-Hughes, J. A. (1990). Am. J. Hum. Genet. 46, 428–433.

    Google Scholar 

  • Houstek, J., Klement, P., Hermanska, J., Houstkova, H., Hansokova, H., Van den Bogert, C., and Zeman, J. (1995). Biochim. Biophys. Acta 1271, 349–357.

    Google Scholar 

  • Howell, N., Kubacka, I., Xu, M., and McCullough, D. A. (1991). Am. J. Hum. Genet. 48, 935–942.

    Google Scholar 

  • Howell, N., Smith, R., Frerman, F., Parks, J. K., and Parker, W. D., Jr. (1996). Neurology 46, 219–222.

    Google Scholar 

  • Huang, C.-C., Wai, Y.-Y., Chu, N.-S., Liou, C.-W., Pang, C.-Y., Shin, K.-D., and Wei, Y.-H. (1995). Eur. Neurol. 35, 199–205.

    Google Scholar 

  • Huoponen, K., Vilkki, J., Aula, P., Nikoskelain, E. K., and Savontaus, M.-L. (1991). Am. J. Hum. Genet. 48, 1147–1153.

    Google Scholar 

  • Hutchin, T., Haworth, I., Higashi, K., Fischel-Ghodsian, N., Stoneking, M., Saha, N., Arnos, C., and Cortopassi, G. (1993). Nucl. Acids Res. 21, 4174–4179.

    Google Scholar 

  • Inoue, K., Takai, D., Soejima, A., Isobe, K., Yamasoba, T., Oka, Y., Goto, Y., and Hayashi, J. (1996). Biochem. Biophys. Res. Commun. 223, 496–501.

    Google Scholar 

  • Ishida, Y., Riesinger, I., Wallimann, T., and Paul, R. J. (1994). Mol. Cell. Biochem. 133/134, 39–50.

    Google Scholar 

  • Johns, D. R., and Hurko, O. (1991). Lancet 337, 927–928.

    Google Scholar 

  • Johns, D. R., Neufeld, M. J., and Park, R. D. (1992). Biochem. Biophys. Res. Commun. 187, 1551–1557.

    Google Scholar 

  • Jun, A. S., Brown, M. D., and Wallace, D. C. (1994). Proc. Natl. Acad. Sci. USA 91, 6206–6210.

    Google Scholar 

  • Kadowaki, H., Tobe, K., Mori, Y., Sakura, H., Sakuta, R., Nonaka, I., Hagura, R., Yazaki, Y., Akanuma, Y., and Kadowaki, T. (1993). Lancet 341, 893–894.

    Google Scholar 

  • Kaufmann, P., Koga, Y., Shanske, S., Hirano, M., DiMauro, S., King, M. P., and Schon, E. A. (1996). Ann. Neurol. 40, 172–180.

    Google Scholar 

  • Kearns, T. P., and Sayre, G. P. (1958). Arch Ophthalmol. 60, 280–289.

    Google Scholar 

  • Keightley, J. A., Hoffbuhr, K. C., Burton, M. D., Salas, V. M., Johnston, W. S. W., Penn, A. M. W., Buist, N. R. M., and Kennaway, N. G. (1996). Nature Genet. 12, 410–416.

    Google Scholar 

  • Kellar-Wood, H., Robertson, N., Govan, G. G., Compston, D. A. S., and Harding, A. E. (1994). Ann. Neurol. 36, 109–112.

    Google Scholar 

  • Kepes, J. J. (1983). Acta Neuropathol. 62, 145–148.

    Google Scholar 

  • King, M. P., and Attardi, G. (1989). Science 246, 500–503.

    Google Scholar 

  • King, M. P., Koga, Y., Davidson, M., and Schon, E. A. (1992). Mol. Cell Biol. 12, 480–490.

    Google Scholar 

  • Kobayashi, M., Morishita, H., Sugiyama, N., Yocochi, K., Nakano, M., Wada, Y., Hotta, Y., Terauchi, A., and Nonaka, I. (1987). J. Pediatr. 110, 223–227.

    Google Scholar 

  • Koga, Y., Davidson, M., Schon, E. A., and King, M. P. (1993). Nucleic Acids. Res. 21, 657–662.

    Google Scholar 

  • Koga, Y., Davidson, M., Schon, E. A., and King, M. P. (1995). Muscle Nerve Suppl. 3, S119–S123.

    Google Scholar 

  • Kogelnik, A. M., Lott, M. T., Brown, M. D., Navathe, S. B., and Wallace, D. C. (1997). Nucleic Acids Res. 25, 196–199.

    Google Scholar 

  • Kruse, B., Narasimhan, N., and Attardi, G. (1989). Cell 58, 391–397.

    Google Scholar 

  • Lamminen, T., Majander, A., Juvonen, V., Wikstrom, M., Aula, P., Nikoskelainen, E., and Savontaus, M.-L. (1995). Am. J. Hum. Genet. 56, 1238–1240.

    Google Scholar 

  • Lauber, J., Marsac, C., Kadenbach, B., and Seibel, P. (1991). Nucleic Acids Res. 19, 1393–1397.

    Google Scholar 

  • Leber, T. (1871). Albrecht von Graefe's Arch. Ophthalmol. 17 (Abt. II), 249–291.

    Google Scholar 

  • Lertrit, P., Noer, A. S., Jean-Francois, M. J. B., Kapsa, R., Dennett, X., Thyagarajan, D., Lethlean, K., Byrne, E., and Marzuki, S. (1992). Am. J. Hum. Genet. 51, 457–468.

    Google Scholar 

  • Lestienne, P., and Ponsot, G. (1988). Lancet 1, 885 (letter).

    Google Scholar 

  • Lindgren, C. A., and Smith, D. O. (1986). J. Neurosci. 6, 2644–2652.

    Google Scholar 

  • Manfredi, G., Schon, E. A., Moraes, C. T., Bonilla, E., Berry, G. T., Sladky, J. T., and DiMauro, S. (1995a). Neuromusc. Disord. 5, 391–398.

    Google Scholar 

  • Manfredi, G., Servidei, S., Bonilla, E., Shanske, S., Schon, E. A., DiMauro, S., and Moraes, C. T. (1995b). Neurology 45, 762–768.

    Google Scholar 

  • Manfredi, G., Schon, E. A., Bonilla, E., Moraes, C. T., Shanske, S., and DiMauro, S. (1996). Hum. Mutat. 7, 158–163.

    Google Scholar 

  • Masucci, J., and Schon, E. A. (1996). Mol. Biol. Rep. 22, 187–193.

    Google Scholar 

  • Masucci, J., Davidson, M., Koga, Y., DiMauro, S., Schon, E. A., and King, M. P. (1995). Mol. Cell. Biol. 15, 2872–2881.

    Google Scholar 

  • Matthews, P. M., Tampieri, D., Berkovic, S. F., Andermann, F., Silver, K., Chityat, D., and Arnold, D. L. (1991). Neurology 41, 1043–1046.

    Google Scholar 

  • Matthews, P. M., Andermann, F., Silver, K., Karpati, G., and Arnold, D. L. (1993). Neurology 43, 2484–2490.

    Google Scholar 

  • Matthijs, G., Claes, S., Longo-Mbenza, B., and Cassiman, J.-J. (1996). Eur. J. Hum. Genet. 4, 46–51.

    Google Scholar 

  • McShane, M. A., Hammans, S. R., Sweeney, M., Holt, I. J., Beattie, T. J., Brett, E. M., and Harding, A. E. (1991). Am. J. Hum. Genet. 48, 39–42.

    Google Scholar 

  • Merante, F., Tein, I., Benson, L., and Robinson, B. H. (1994). Am. J. Hum. Genet. 55, 437–446.

    Google Scholar 

  • Merante, F., Myint, T., Tein, I., Benson, L., and Robinson, B. H. (1996). Hum. Mutat. 8, 216–222.

    Google Scholar 

  • Mita, S., Schmidt, B., Schon, E. A., DiMauro, S., and Bonilla, E. (1989). Proc. Natl. Acad. Sci. USA 86, 9509–9513.

    Google Scholar 

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

    Google Scholar 

  • Montoya, J., Gaines, G. L., and Attardi, G. (1983). Cell 34, 151–159.

    Google Scholar 

  • Moraes, C. T., and Schon, E. A. (1995). In Progress in Cell Research, Vol. 5 (Palmieri, F., Papa, S., Saccone, C., and Gadaleta, M. N., eds.), Elsevier, Amsterdam, pp. 209–215.

    Google Scholar 

  • Moraes, C. T., DiMauro, S., Zeviani, M., Lombes, A., Shanske, S., Miranda, A. F., Nakase, H., Bonilla, E., Wernec, L. C., Servidei, S., Nonaka, I., Koga, Y., Spiro, A., Brownell, K. W., Schmidt, B., Schotland, D. L., Zupanc. M. D., DeVivo, D. C., Schon, E. A., and Rowland, L. P. (1989). N. Engl. J. Med. 320, 1293–1299.

    Google Scholar 

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

    Google Scholar 

  • Moraes, C. T., Ricci, E., Bonilla, E., DiMauro, S., and Schon, E. A. (1992). Am. J. Hum. Genet. 50, 934–949.

    Google Scholar 

  • Moraes, C. T., Ciacci, F., Bonilla, E., Ionasescu, V., Schon, E. A., and DiMauro, S. (1993a). Nature Genet. 4, 284–288.

    Google Scholar 

  • Moraes, C. T., Ciacci, F., Bonilla, E., Jansen, C., Hirano, M., Rao, N., Lovelace, R. E., Rowland, L. P., Schon, E. A., and DiMauro, S. (1993b). J. Clin. Invest. 92, 2906–2915.

    Google Scholar 

  • Moraes, C. T., Ciacci, F., Silvestri, G., Shanske, S., Sciacco, M., Hirano, M., Schon, E. A., Bonilla, E., and DiMauro, S. (1993c). Neuromusc. Disord. 3, 43–50.

    Google Scholar 

  • Morris, R. L., and Hollenbeck, P. J. (1993). J. Cell Sci. 104, 917–927.

    Google Scholar 

  • Morten, K. J., Cooper, J. M., Brown, G. K., Lake, B. D., Pike, D., and Poulton, J. (1993). Hum. Mol. Genet. 2, 2081–2087.

    Google Scholar 

  • Mueller-Klieser, W., and Walenta, S. (1993). Histochem. J. 25, 407–420.

    Google Scholar 

  • Nakamura, M., Nakano, S., Goto, Y.-i., Ozawa, M., Nagahama, Y., Fukuyama, H., Akiguchi, I., Kaji, R., and Kimura, J. (1995). Biochem. Biophys. Res. Commun. 214, 86–93.

    Google Scholar 

  • Nakase, H., Moraes, C. T., Rizzuto, R., Lombes, A., DiMauro, S., and Schon, E. A. (1990). Am. J. Hum. Genet. 46, 418–427.

    Google Scholar 

  • Nelson, I., Hanna, M. G., Alsanjari, N., Scaravilli, F., Morgan-Hughes, J. A., and Harding, A. E. (1995). Ann. Neurol. 37, 400–403.

    Google Scholar 

  • Niaudet, P., Heidet, L., Munnich, A., Schmitz, J., Bouissou, F., Gubler, M. C., and A., R. (1994). Pediatr. Nephrol. 8, 164–168.

  • Nishino, I., Seki, A., Maegaki, Y., Takeshita, K., Horai, S., Nonaka, I., and Goto, I. (1996). Am. J. Hum. Genet. 59, A400.

    Google Scholar 

  • Obayashi, T., Hattori, K., Sugiyama, S., Tanaka, M., Tanaka, T., Itoyama, S., Deguchi, H., Kawamura, K., Koga, Y., Toshima, H., Takeda, N., Nagano, M., Ito, T., and Ozawa, T. (1992). Am. Heart J. 124, 1263–1269.

    Google Scholar 

  • Ohama, E., and Ikuta, F. (1987). Acta Neuropathol. 75, 1–7.

    Google Scholar 

  • Onishi, H., Inoue, K., Osaka, H., Kimura, S., Nagatomo, H., Hanihara, T., Kawamoto, S., Okuda, K., Yamada, Y., and Kosaka, K. (1993). J. Neurol. Sci. 114, 205–208.

    Google Scholar 

  • Ozawa, T., Tanaka, M., Sugiyama, S., Ino, H., Hattori, K., Ohbayashi, T., Ito, T., Deguchi, H., Kawamura, K., Nakane, Y., and Hashiba, K. (1991). Biochem. Biophys. Res. Commun. 177, 518–525.

    Google Scholar 

  • Ozawa, M., Nishino, I., Horai, S., Nonaka, I., and Goto, Y.-i. (1997). Muscle Nerve 20, 271–278.

    Google Scholar 

  • Pastores, G. M., Santorelli, F. M., Shanske, S., Gelb, B. D., Fyfe, B., Wolfe, D., and Willner, J. P. (1994). Am. J. Med. Genet. 50, 265–271.

    Google Scholar 

  • Pearson, H. A., Lobel, J. S., Kocoshis, S. A., Naiman, J. L., Windmiller, J., Lammi, A. T., Hoffman, R., and Marsh, J. C. (1979). J. Pediatr. 95, 976–984.

    Google Scholar 

  • Petruzzella, V., Moraes, C. T., Sano, M. C., Bonilla, E., DiMauro, S., and Schon, E. A. (1994). Hum. Mol. Genet. 3, 449–454.

    Google Scholar 

  • Poulton, J., Deadman, M. E., and Gardiner, R. M. (1989). Nucleic Acids Res. 17, 10223–10229.

    Google Scholar 

  • Poulton, J., Deadman, M. E., Bindoff, L., Morten, K., Land, J., and Brown, G. (1993). Hum. Mol. Genet. 2, 23–30.

    Google Scholar 

  • Poulton, J., Morten, K. J., Marchington, D., Weber, K., Brown, K. G., Rötig, A., and Bindoff, L. (1995). Muscle Nerve Suppl. 3, S154–S158.

    Google Scholar 

  • Prezant, T. R., Agapian, J. V., Bohlman, M. C., Bu, X., Oztas, S., Qiu, W.-Q., Arnos, K. S., Cortopassi, G. A., Jaber, L., Rotter, J. I., Shohat, M., and Fischel-Ghodsian, N. (1993). Nature Genet. 4, 289–294.

    Google Scholar 

  • Reardon, W., Ross, R. J., Sweeney, M. G., Luxon, L. M., Harding, A. E., and Trembath, R. C. (1992). Lancet 340, 1376–1379.

    Google Scholar 

  • Reid, F. M., Vernham, G. A., and Jacobs, H. T. (1994). Hum. Mutat. 3, 243–247.

    Google Scholar 

  • Remes, A. M., Majamaa, K., Herva, R., and Hassinen, I. E. (1993). Neurology 43, 1015–1020.

    Google Scholar 

  • Rötig, A., Cormier, V., Koll, F., Mize, C. E., Saudubray, J.-M., Veerman, A., Pearson, H. A., and Munnich, A. (1991). Genomics 10, 502–504.

    Google Scholar 

  • Rötig, A., Bessis, J.-L., Romero, N., Cormier, V., Saudubray, J.-M., Narcy, P., Lenoir, G., Rustin, P., and Munnich, A. (1992). Am. J. Hum. Genet. 50, 364–370.

    Google Scholar 

  • Rötig, A., Bourgeron, T., Chretien, D., Rustin, P., and Munnich, A. (1995). Hum. Mol. Genet. 4, 1327–1330.

    Google Scholar 

  • Rowland, L. P., Hays, A. P., DiMauro, S., DeVivo, D. C., and Behrens, M. (1983). In Mitochondrial Pathology in Muscle Diseases (Cerri, C., and Scarlato, G., eds.), Piccin Editore, Padua, pp. 141–158.

    Google Scholar 

  • Rowland, L. P. (1994). In Mitochondrial Disorders in Neurology (Schapira, A. H. V., and DiMauro, S., eds.), Butterworth-Heinemann, Oxford, pp. 116–129.

    Google Scholar 

  • Rummelt, V., Folberg, R., Ionasescu, V., Yi, H., and Moore, K. C. (1993). Ophthalmology 100, 1757–1766.

    Google Scholar 

  • Sahashi, K., Ibi, T., Ohno, R., Tanaka, M., Tashiro, M., Marui, K., Nakao, N., and Ozawa, T. (1994). Muscle Nerve Suppl. 1, S139.

    Google Scholar 

  • Saks, V. A., Khuchua, Z. A., Vasilyeva, E. V., Belikova, O. Y., and Kuznetsov, A. V. (1994). Mol. Cell. Biochem. 133/134, 155–192.

    Google Scholar 

  • Sakuta, R., Goto, Y.-i., Nonaka, I., and Horai, S. (1993). Am. J. Hum. Genet. 53, 964–965.

    Google Scholar 

  • Santorelli, F., Shanske, S., Macaya, A., DeVivo, D. C., and DiMauro, S. (1993). Ann. Neurol. 34, 827–834.

    Google Scholar 

  • Santorelli, F. M., Shanske, S., Jain, K. D., Tick, D., Schon, E. A., and DiMauro, S. (1994). Neurology 44, 972–974.

    Google Scholar 

  • Santorelli, F. M., Mak, S. C., Vazquez-Acevedo, M., Gonzalez-Astiazaran, A., Ridaura-Sanz, C., Gonzalez-Halphen, D., and DiMauro, S. (1995). Biochem. Biophys. Res. Commun. 216, 835–840.

    Google Scholar 

  • Santorelli, F. M., Mak, S.-C., El-Schahawi, M., Casali, C., Shanske, S., Baram, T. Z., Madrid, R. E., and DiMauro, S. (1996). Am. J. Hum. Genet. 58, 933–939.

    Google Scholar 

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

    Google Scholar 

  • Schon, E. A., Bonilla, E., Miranda, A. F., and DiMauro, S. (1991). In Molecular Genetic Approaches to Neuropsychiatric Disease (Brosius, J., and Fremeau, R., eds.), Academic Press, San Diego, pp. 57–80.

    Google Scholar 

  • Schon, E. A., Koga, Y., Davidson, M., Moraes, C. T., and King, M. P. (1992). Biochim. Biophys. Acta 1101, 206–209.

    Google Scholar 

  • Schon, E. A., Hirano, M., and DiMauro, S. (1994). J. Bioenerg. Biomembr. 26, 291–299.

    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 

  • Shanske, S., Moraes, C. T., Lombes, A., Miranda, A. F., Bonilla, E., Lewis, P., Whelan, M. A., Ellsworth, C. A., and DiMauro, S. (1990). Neurology 40, 24–28.

    Google Scholar 

  • Shoffner, J. M., Lott, M. T., Lezza, A. M. S., Seibel, P., Ballinger, S. W., and Wallace, D. C. (1990). Cell 61, 931–937.

    Google Scholar 

  • Shoffner, J. M., Bialer, M. G., Pavlakis, S. G., Lott, M., Kaufman, A., Dixon, J., Teichberg, S., and Wallace, D. C. (1995). Neurology 45, 286–292.

    Google Scholar 

  • Silvestri, G., Moraes, C. T., Shanske, S., Oh, S. J., and DiMauro, S. (1992). Am. J. Hum. Genet. 51, 1213–1217.

    Google Scholar 

  • Silvestri, G., Ciafaloni, E., Santorelli, F. M., Shanske, S., Servidei, S., Graf, W. D., Sumi, M., and DiMauro, S. (1993). Neurology 43, 1200–1206.

    Google Scholar 

  • Silvestri, G., Santorelli, F. M., Shanske, S., Whitley, C. B., Schimmenti, L. A., Smith, S. A., and DiMauro, S. (1994). Hum. Mutat. 3, 37–43.

    Google Scholar 

  • Silvestri, G., Servidei, S., Rana, M., Ricci, E., Spinazzola, A., Paris, E., and Tonali, P. (1996). Biochem. Biophys. Res. Commun. 220, 623–627.

    Google Scholar 

  • Simon, V. R., Swayne, T. C., and Pon, L. A. (1995). J. Cell Biol. 130, 345–354.

    Google Scholar 

  • Soejima, A., Inoue, K., Takai, D., Kaneko, M., Ishihara, H., Oka, Y., and Hayashi, J.-I. (1996). J. Biol. Chem. 271, 26194–26199.

    Google Scholar 

  • Sparaco, M., Schon, E. A., DiMauro, S., and Bonilla, E. (1994). Brain Pathol. 5, 125–133.

    Google Scholar 

  • Sprinzl, M., Hartmann, T., Weber, J., Blank, J., and Zeidler, R. (1989). Nucleic Acids Res. 17 Suppl., 1–172.

    Google Scholar 

  • Sturmer, K., Baumann, O., and Walz, B. (1995). J. Cell Sci. 108, 2273–2283.

    Google Scholar 

  • Superti-Furga, A., Schoenle, E., Tuchschmid, P., Caduff, R., Sabato, V., deMattia, D., Gitzelmann, R., and Steinmann, B. (1993). Eur. J. Pediatr. 152, 44–50.

    Google Scholar 

  • Sweeney, M. G., Bundey, S., Brockington, M., Poulton, J. R., Weiner, J. B., and Harding, A. E. (1993). Q. J. Med. 86, 709–713.

    Google Scholar 

  • Szabolcs, M. J., Seigle, R., Shanske, S., Bonilla, E., DiMauro, S., and D'Agati, V. (1994). Kidney Int. 45, 1388–1396.

    Google Scholar 

  • Tamulevicius, P., and Streffer, C. (1995). Br. J. Cancer 72, 1102–1112.

    Google Scholar 

  • Taniike, M., Fukushima, H., Yanagihara, I., Tsukamoto, H., Tanaka, J., Fujimura, H., Nagai, T., Sano, T., Yamaoka, K., Inui, K., and Okada, S. (1992). Biochem. Biophys. Res. Commun. 186, 47–53.

    Google Scholar 

  • Tatuch, Y., Christodoulou, J., Feigenbaum, A., Clarke, J. T. R., Wherret, J., Smith, C., Rudd, N., Petrova-Benedict, R., and Robinson, B. H. (1992). Am. J. Hum. Genet. 50, 852–858.

    Google Scholar 

  • Tatuch, Y., and Robinson, B. H. (1993). Biochem. Biophys. Res. Commun. 192, 124–128.

    Google Scholar 

  • Taylor, R. W., Chinnery, P. F., Haldane, F., Morris, A. A. M., Bindoff, L. A. Wilson, J., and Turnbull, D. M. (1996). Ann. Neurol. 40, 459–462.

    Google Scholar 

  • Thyagarajan, D., Shanske, S., Vasquez-Memije, M., DeVivo, D., and DiMauro, S. (1995). Ann. Neurol. 38, 468–472.

    Google Scholar 

  • Tiranti, V., Chariot, P., Carella, F., Toscano, A., Soliveri, P., Girlanda, P., Carrara, F., Fratta, G. M., Reid, F. M., Mariotti, C., and Zeviani, M. (1995). Hum. Mol. Genet. 4, 1421–1427.

    Google Scholar 

  • Trounce, I., Neill, S., and Wallace, D. C. (1994). Proc. Natl. Acad. Sci. USA 91, 8334–8338.

    Google Scholar 

  • van den Ouweland, J. M. W., Bruining, G. J., Lindhout, D., Wit, J.-M., Veldhuyzen, B. F. E., and Maassen, J. A. (1992a). Nucleic Acids Res. 20, 679–682.

    Google Scholar 

  • van den Ouweland, J. M. W., Lemkes, H. H. P. J., Ruitenbeek, W., Sandkuijl, L. A., de Vijlder, M. F., Struyvenberg, P. A. A., van de Kamp, J. J. P., and Maassen, J. A. (1992b). Nature Genet. 1, 368–371.

    Google Scholar 

  • Vazquez-Memije, M. E., Shanske, S., Santorelli, F. M., Kranz-Eble, P., Davidson, E., DeVivo, D. C., and DiMauro, S. (1996). J. Inher. Metab. Dis. 19, 43–50.

    Google Scholar 

  • Wallace, D. C., Singh, G., Lott, M. T., Hodge, J. A., Schurr, T. G., Lezza, A. M. S., Elsas II, L. J., and Nikoskelainen, E. K. (1988). Science 242, 1427–1430.

    Google Scholar 

  • Wallimann, T., Wyss, M., Brdiczka, D., Nicolay, K., and Eppenberger, H. M. (1992). Biochem. J. 281, 21–40.

    Google Scholar 

  • Weber, K., Wilson, J. N., Taylor, L., Brierley, E., Johnson, M. A., Turnbull, D. M., and Bindoff, L. A. (1997). Am. J. Hum. Genet. 60, 373–380.

    Google Scholar 

  • Yoon, K. L., Aprille, J. R., and Ernst, S. G. (1991). Biochem. Biophys. Res. Commun. 176, 1112–1115.

    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., Gellera, C., Antozzi, C., Rimoldi, M., Morandi, L., Villani, F., Tiranti, V., and DiDonato, S. (1991). Lancet 338, 143–147.

    Google Scholar 

  • Zeviani, M., Muntoni, F., Savarese, N., Serra, G., Tiranti, V., Carrara, F., Mariotti, C., and DiDonato, S. (1993). Eur. J. Hum. Genet. 1, 80–87.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Departments of Neurology, Genetics and Development, Columbia University, 630 W. 168 Street, New York, New York, 10032

    Eric A. Schon

  2. Departments of Neurology, Columbia University, 630 W. 168 Street, New York, New York, 10032

    Eduardo Bonilla & Salvatore DiMauro

Authors
  1. Eric A. Schon
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Eduardo Bonilla
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Salvatore DiMauro
    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

Schon, E.A., Bonilla, E. & DiMauro, S. Mitochondrial DNA Mutations and Pathogenesis. J Bioenerg Biomembr 29, 131–149 (1997). https://doi.org/10.1023/A:1022685929755

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/A:1022685929755

Search

Navigation