Mitochondrial DNA mutations in diseases of energy metabolism (original) (raw)
References
Adams, V., Griffin, L., Towbin, J., Gelb, B., Worley, K., and McCabe, E. R. (1991). Porin interaction with hexokinase and glycerol kinase: metabolic microcompartmentation at the outer mitochondrial membrane,Biochem. Med. Metab. Biol.45 271–291. Google Scholar
Ballinger, S. W., Schurr, T. G., Torroni, A., Gan, Y. Y., Hodge, J. A., Hassan, K., Chen, K. H., and Wallace, D. C. (1992a). Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations,Genetics130 139–152. Google Scholar
Ballinger, S. W., Shoffner, J. M., Hedaya, E. V., Trounce, I., Polak, M. A., Koontz, D. A., and Wallace, D. C. (1992b). Maternally transmitted diabetes and deafness associated with a 10.4-kb mitochondrial DNA deletion,Nature Genet.1 11–15. Google Scholar
Ballinger, S. W., Shoffner, J. M., Gebhart, S., Koontz, D. A., and Wallace, D. C. (1994). Mitochondrial diabetes and deafness: a complex mtDNA rearrangement results in failure of insulin production, in press.
Bandy, B., and Davison, A. J. (1990). Mitochondrial mutations may increase oxidative stress: implications for carcinogenesis and aging?Free Rad. Biol. Med.8 523–539. 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). Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism.J. Biol. Chem.268 19559–19564. Google Scholar
Brown, M. D., Voljavec, A. C., Lott, M. T., MacDonald, I., and Wallace, D. C. (1992a). Leber's hereditary optic neuropathy; a model for mitochondrial neurodegenerative diseases,FASEB J.6 2791–2799. Google Scholar
Brown, M. D., Voljavec, A. S., Lott, M. T., Torroni, A., Yang, C.-C., and Wallace, D. C. (1992b). Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy,Genetics130 163–173. Google Scholar
Cann, R. L., and Wilson, A. C. (1983). Length mutations in human mitochondrial DNA,Genetics104 699–711. Google Scholar
Cann, R. L., Stoneking, M., and Wilson, A. C. (1987). Mitochondrial DNA and human evolution,Nature (London)325 31–36. Google Scholar
Chung, A. B., Stepien, G., Haraguchi, Y., Li, K., and Wallace, D. C. (1993). Transcriptional control of nuclear genes for the mitochondrial muscle ADP/ATP translocator and the ATP synthase β subunit: multiple factors interact with the OXBOX/REBOX promoter sequences,J. Biol. Chem.267 21154–21161. Google Scholar
Cooper, J. M., Mannn, V. M., and Schapira, A. H. V. (1992). Analyses of mitochondrial respiratory chain function and mitochondrial DNA deletion in human skeletal muscle: effect of ageing,J. Neurol. Sci.113 91–98. Google Scholar
Corral-Debrinski, M., Stepien, G., Shoffner, J. M., Lott, M. T., Kanter, K., and Wallace, D. C. (1991). Hypoxemia is associated with mitochondrial DNA damage and gene induction,J. Am. Med. Assoc.266 1812–1816. Google Scholar
Corral-Debrinski, M., Horton, T., Lott, M. T., Shoffner, J. M., Beal, M. F., and Wallace, D. C. (1992a). Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age,Nature Genet.2 324–329. Google Scholar
Corral-Debrinski, M., Shoffner, J. M., Lott, M. T., and Wallace, D. C. (1992b). Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease,Mutat. Res.275 169–180. Google Scholar
Cortopassi, G. A., and Arnheim, N. (1990). Detection of a specific mitochondrial DNA deletion in tissues of older humans,Nucleic Acids Res.18 6927–6933. Google Scholar
Cortopassi, G. A., Shibata, D., Soong, N.-W., and Arnheim, N. A. (1992). A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues,Proc. Natl. Acad. Sci. USA.89 7370–7374. Google Scholar
Denaro, M., Blanc, H., Johnson, M. J., Chen, K. H., Wilmsen, E., Cavalli Sforza, L. L., and Wallace, D. C. (1981). Ethnic variation in Hpa 1 endonuclease cleavage patterns of human mitochondrial DNA,Proc. Natl. Acad. Sci. USA78 5768–5772. Google Scholar
DeVries, D. D., Van Engelen, B. G., Gabreels, F. J., Ruitenbeek, W., and Van Oost, B. A. (1993). A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome,Ann. Neurol.34 410–412. Google Scholar
Dunbar, D. R., Moonie, P. A., Swingler, R. J., Davidson, D., Roberts, R., and Holt, I. J. (1993). Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus,Hum. Mol. Genet.2 1619–1624. Google Scholar
German, M. S. (1993). Glucose sensing in pancreatic islet beta cells: The key role of glucokinase and the glycolytic intermediates,Proc. Natl. Acad. Sci. USA90 1781–1785. Google Scholar
Gidh-Jain, M., Takeda, J., Xu, L. Z., Lange, A. J., Vionnet, N., Stoffel, M., Froguel, P., Velho, G., Sun, F., Cohen, D., Patel, P., Lo, Y. M. D., Hattersley, A. T., Luthman, H., Wedell, A., St. Charles, R., Harrison, R. W., Weber, I. T., Bell, G. I., and Pilkis, A. J. (1993). Glucokinase mutations associated with non-insulin-dependent (Type 2) diabetes mellitus have decreased enyzmatic activity: implications for structure/function relationships,Proc. Natl. Acad. Sci. USA90 1932–1936. Google Scholar
Giles, R. E., Blanc, H., Cann, H. M., and Wallace, D. C. (1980). Maternal inheritance of human mitochondrial DNA,Proc. Natl. Acad. Sci. USA.77 6715–6719. Google Scholar
Goto, Y., Nonaka, I., and Horai, S. (1990). A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies,Nature (London)348 651–653. Google Scholar
Harman, D. (1972). The biologic clock: the mitochondria?J. Am. Ger. Soc.20 145–147. Google Scholar
Hayakawa, M., Hattori, H., Sugiyama, S., and Ozawa, T. (1992). Age-associated oxygen damage and mutations in mitochondrial DNA in human hearts,Biochem. Biophys. Res. Commun.189 979–985. Google Scholar
Hertzberg, M., Mickleson, K. N. P., Serjeantson, S. W., Prior, J. F., and Trent, R. J. (1989). An Asian specific 9-bp deletion of mitochondrial DNA is frequently found in Polynesians,Am. J. Hum. Genet.44 504–510. Google Scholar
Holt, I. J., Harding, A. E., and Morgan-Hughes, J. A. (1988). Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies,Nature (London)331 717–719. Google Scholar
Holt, I. J., Harding, A. E., Petty, R. K., and Morgan-Hughes, J. A. (1990). A new mitochondrial disease associated with mitochondrial DNA heteroplasmy,Am. J. Hum. Genet.46 428–433. Google Scholar
Howell, N., Bindoff, L. A., McCullough, D. A., Kubacka, I., Poulton, J., Mackey, D., Taylor, L., and Turnbull, D. M. (1991). Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees,Am. J. Hum. Genet.49 939–950. Google Scholar
Huoponen, K., Vilkki, J., Aula, P., Nikoskelainen, E. K., and Savontaus, M. L. (1991). A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy,Am. J. Hum. Genet.48 1147–1153. Google Scholar
Huoponen, K., Lamminen, T., Juvonen, V., Aula, P., Nikoskelainen, E., and Savontaus, J. L. (1993). The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy,Hum. Genet.92 379–384. Google Scholar
Johns, D. R., and Neufeld, M. J. (1991). Cytochrome_b_ mutations in Leber hereditary optic neuropathy,Biochem. Biophys. Res. Commun.181 1358. Google Scholar
Johns, D. R., Neufeld, M. J., and Park, R. D. (1992a). An ND-6 mitochondrial DNA mutation associated with Lever hereditary optic neuropathy,Biochem. Biophys. Res. Commun.187 1551–1557. Google Scholar
Johns, D. R., Smith, K. H., and Miller, N. R. (1992b). Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation,Arch. Ophthalmol.110 1577–1581. Google Scholar
Johnson, M. J., Wallace, D. C., Ferris, S. D., Rattazzi, M. C., and Cavalli Sforza, L. L. (1983). Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns,J. Mol. Evol.19 255–271. Google Scholar
Jun, A. S., Brown, M. D., and Wallace, D. C. (1994). A Mitochondrial DNA mutation at np 14459 of the ND6 gene associated with maternally inherited Leber's hereditary optic neuropathy and dystonia,Proc. Nat. Acad. Sci. USA, in press.
Larsson, N. G., Holme, E., Kristiansson, B., Oldfors, A., and Tulinius, M. (1990). Progressive increase of the mutated mitochondrial DNA frcation in Kearns-Sayre syndrome,Pediatr. Res.28 131–136. Google Scholar
Linnane, A. W., Marzuki, S., Ozawa, T. and Tanaka, M. (1989). Mitochondrial DNA mutations as an important contributor to ageing and degenerative diseases,Lancet1 642–645. Google Scholar
Lott, M. T., Voljavec, A. S., and Wallace, D. C. (1990). Variable genotype of Lever's hereditary optic neuropathy patients,Am. J. Ophthalmol.109 625–631. Google Scholar
Mackey, D., and Howell, N. (1992). A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology,Am. J. Hum. Genet.51 1218–1228. Google Scholar
Malaisse-Lagae, F., and Malaisse, W. J. (1988). Hexose metabolism in pancreatic islets: regulation of mitochondrial hexokinase binding,Biochem. Med. Metab. Biol.39 80–89. Google Scholar
Merriwether, D. A., Clark, A. G., Ballinger, S. W., Schurr, T. G., Soodyall, H., Jenkins, T., Sherry, S. T., and Wallace, D. C. (1991). The structure of human mitochondrial DNA variation,J. Mol. Evol.33 543–555. Google Scholar
Miguel, J., Economos, A. C., Fleming, J., and Johnson, J. E. (1980). Mitochondrial role in cell aging,Exp. Gerontol.15 575–591. Google Scholar
Mita, S., Schmidt, B., Schon, E. A., DiMauro, S., and Bonilla, E. (1989). Detection of “deleted” mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome,Proc. Natl. Acad. Sci. USA86 9509–9513. 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, 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. Google Scholar
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 novel genetic abnormality in mitochondrial disease,Am. J. Hum. Genet.48 492–501. Google Scholar
Moraes, C. T., Ciacci, F., Bonilla, E., Ionasescu, V., Schon, E. A., DiMauro, S. (1993). A mitochondrial tRNA anticodon swap associated with a muscle disease.Nat. Genet.4 284–288. Google Scholar
Munscher, C., Rieger, T., Muller-Hocker, J., and Kadenbach, B. (1993). The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages,FEBS Lett.317 27–30. Google Scholar
Ortiz, R. G., Newman, N. J., Shoffner, J. M., Kaufman, A. E., Koontz, D. A., and Wallace, D. C. (1993). Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation,Arch. Ophthalmol.111 1525–1530. Google Scholar
Otsuka, M., Niijima, K., Mizuno, Y., Yoshida, M., Kagawa, Y., and Ohta, S. (1990). Marked decrease of mitochondrial DNA with multiple deletions in a patient with familial mitochondrial myopathy,Biochem. Biophys. Res. Commun.167 680–685. Google Scholar
Poulton, J., Deadman, M. E., Bindoff, L., Morten, K., Land, J., and Brown, G. (1993). Families of mtDNA rearrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form,Hum. Mol. Genet.2 23–30. Google Scholar
Prezant, T. R., Agapian, J. V., Bohlman, M. C., Bu, X, Oztas, S., Qiu, W. Q., Arnos, K. S., Coropassi, G. A., Jaber, I., Rotter, J. I., Shohat, M., and Fischel-Ghodsian, N. (1993). Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and nonsyndromic deafness,Nature Genet.4 289–294. Google Scholar
Rötig, A., Colonna, M., Blanche, S., Fischer, A., LeDeist, F., Frezal, J., Saudubray, J. M., and Munnich, A. (1988). Deletion of blood mitochondrial DNA in pancytopenia,Lancet2 567–568. Google Scholar
Rötig, A., Colonna, M., Bonnefont, J. P., Blanche, S., Fischer, A., Saudubray, J. M., and Munnich, A. (1989). Mitochondrial DNA deletion in Pearson's marrow-pancreas syndrome,Lancet1 902–903. Google Scholar
Schurr, T. G., Ballinger, S. W., Gan. Y.-Y., Hodge, J. A., Merriwether, D. A., Lawrence, D. N., Knowler, W. C., Weiss, K. M., and Wallace, D. C. (1990). Amerindian mitochondrial DNAs have rare Asian mutations at high frequencies, suggesting they derived from four primary maternal lineages,Am. J. Hum. Genet.46 613–623. Google Scholar
Shoffner, J. M., Lott, M. T., Lezza, A. M., Seibel, P., Ballinger, S. W., and Wallace, D. C. (1990). Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation,Cell61 931–937. Google Scholar
Shoffner, J. M., Fernhoff, M. D., Krawiecki, N. S., Caplan, D. B., Holt, P. J., Koontz, D. A., Takei, Y., Newman, N. J., Ortiz, R. G., Polak, M., Ballinger, S. W., Lott, M. T., and Wallace, D. C. (1992). Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation,Neurology42 2168–2174. Google Scholar
Shoffner, J. M., Brown, M. D., Torroni, A., Lott, M. T., Cabell, M. R., Mirra, S. S., Beal, M. F., Yang, C., Gearing, M., Salvo, R., Watts, R. L., Juncos, J. L., Hansen, L. A., Crain, B. J., Fayad, M., Reckord, C. L., and Wallace, D. C. (1993a). Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients,Genomics17 171–184. Google Scholar
Shoffner, J. M., Krawiecki, N., Cabell, M. F., Torroni, A., and Wallace, D. C. (1993b) A novel tRNALeu(UUR) mutation in childhood mitochondrial myopathy,Am. J. Hum. Genet.53 (Suppl), No. 949.
Shoubridge, E. A., Karpati, G., and Hastings, K. E. M. (1990). Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease,Cell62 43–49. Google Scholar
Simonetti, S., Chen, X., DiMauro, S., and Schon, E. A. (1992). Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR,Biochem. Biophys. Acta1180 113–122. Google Scholar
Singh, G., Lott, M. T., and Wallace, D. C. (1989). A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy,N. Engl. J. Med.320 1300–1305. Google Scholar
Soong, N. W., Hinton, D. R., Cortopassi, G., and Arnheim, N. (1992). Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain,Nature Genet.2 318–323. Google Scholar
Stoffel, M., Patel, P., Lo, Y. M., Hattersley, A. T., Lucassen, A. M., Page, R., Bell, J. I., Bell, G. I., and Turner, R. C. (1992). Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes,Nature Genet.2 153–156. Google Scholar
Stoneking, M., Jorde, L. B., Bhatia, K., and Wilson, A. C. (1990). Geographic variation in human mitochondrial DNA from Papua New Guinea,Genetics124 717. Google Scholar
Tatuch, Y., Christodoulou, J., Geigenbaum, A., Clarke, J. T. R., Wherret, J., Smith, C., Rudd, N., Petrova-Benedict, R., and Robinson, B. H. (1992). Heterplasmic mtDNA mutation (TG) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high,Am. J. Hum. Genet.50 852–858. 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., Kadenback, B., DiMauro, S., and Schon, E. A. (1992). Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA,Neurology42 209–217. Google Scholar
Torroni, A., Schurr, T. G., Yang, C.-C., Szathmary, E. J., Williams, R. C., Schanfield, M. S., Troup, G. A., Knowler, W. C., Lawrence, D. N., and Weiss, K. M. (1992). Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations,Genetics130 153–162. Google Scholar
Torroni, A., Schurr, T. G., Cabell, M. F., Brown, M. D., Neel, J. V., Larsen, M., Smith, D. G., Vullo, C. M., and Wallace, D. C. (1993a). Asian affinities and continental radiation of the four founding Native American mtDNAs,Am. J. Hum. Genet.53 563–590. Google Scholar
Torroni, A., Sukernik, R. I., Schurr, T. G., Starikovskaya, Y. B., Cabell, M. F., Crawford, M. H., Comuzzie, A. G., and Wallace, D. C. (1993b). MtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans,Am. J. Hum. Genet.53 591–608. Google Scholar
Torroni, A., Chen, Y., Semino, O., Santachiara-Beneceretti, A. S., Scott, C. R., Lott, M. T., Winter, M., and Wallace, D. C. (1994a). Mitochondrial DNA and Y-chromosome polymorphisms in four native American populations from southern Mexico,Am. J. Hum. Genet.54 303–318. Google Scholar
Torroni, A., Lott, M. R., Cabell, M. F., Chen. Y., Laverge, L., Wallace, D. C. (1994b). Mitochondrial DNA and the origin of Caucasians. Identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region,Am. J. Hum. Genet., in press.
Torroni, A., Miller, J. A., Moore, L. G., Zamudio, S., Zhuang, J., Droma, R., and Wallace, D. C. (1994c). Mitochondrial DNA analysis in Tibet. Implications for the origin of the Tibetan population and its adaptation to high altitude,Am. J. Phys. Anthropol.,93 189–199. Google Scholar
Torroni, A., Neel, J. V., Barrantes, R., Schurr, T. G., and Wallace, D. C. (1994d). A mitochondrial DNA “clock” for the Amerinds and its implications for timing their entry into North America,Proc. Natl. Acad. Sci. USA,91 1158–1162. Google Scholar
Trounce, I., Byrne, E., and Marzuki, S. (1989). Decline in skeletal muscle mitochondrial respiratory chain function: possible factor in ageing,Lancet1 637–639. Google Scholar
van den Ouweland, J. M., Lemkes, H. H. P., Ruitenbeek, W., Sandkjujl, L. A., deVijlder, M. F., Struyvenberg, P. A. A., van de Kamp, J. J. P., and Maassen, J. A. (1992). Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness,Nature Genet.1 368–371. Google Scholar
Wallace, D. C. (1992a). Mitochondrial genetics: a paradigm for aging and degenerative diseases?Science256 628–632. Google Scholar
Wallace, D. C. (1992b). Diseases of the mitochondrial DNA,Annu. Rev. Biochem.61 1175–1212. Google Scholar
Wallace, D. C., Garrison, K., and Knowler, W. C. (1985). Dramatic founder effects in Amerindian mitochondrial DNAs,Am. J. Phys. Anthropol.68 149–155. Google Scholar
Wallace, D. C., Singh, G., Lott, M. T., Hodge, J. A., Schurr, T. G., Lezza, A. M., Elsas, L. J., and Nikoskelainen, E. K. (1988). Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy,Science242 1427–1430. Google Scholar
Wallace, D. C., Lott, M. R., Shoffner, J. M., and Ballinger, S. (1994a). Mitochondrial DNA mutations in epilepsy and neurological disease,Epilepsia35(Suppl. 1), S43-S50. Google Scholar
Wallace, D. C., Lott, M. T., Torroni, A., Brown, M. D., and Shoffner, J. M. (1994b). Report of the committee on human mitochondrial DNA.Human Gene Mapping, 1993: A compendium. Baltimore: The Johns Hopkins University Press, (in press). Google Scholar
Yen, T. C., Chen, Y. S., King, K. L., Yeh, S. H., and Wei, Y. H. (1989). Liver mitochondrial respiratory functions decline with age,Biochem. Biophys. Res. Commun.165 944–1003. Google Scholar
Zeviani, M., Servidei, S., Gellera, C., Bertini, E., DiMauro, D., and DiDonato, S. (1989). An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region,Nature (London)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). Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autos-omal dominant disease,Am. J. Hum. Genet.47 904–914. Google Scholar
Zhang, C., Baumer, A., Maxwell, R. J., Linnane, A. W., and Nagley, P. (1992). Multiple mitochondrial DNA deletions in an elderly human individual,FEBS Lett.297 4–8. Google Scholar