Animal mitochondria: Evolution, function, and disease

Current Molecular Medicine

Volumn 14, Issue 1, 2014, Pages 115-124

  Tao, M ^a   You, C P ^b   Zhao, R R ^a   Liu, S J ^a   Zhang, Z H ^a   Zhang, C ^a   Liu, Y ^a  

^a HUNAN NORMAL UNIVERSITY   (China)

^b LINYI PEOPLE'S HOSPITAL   (China)

Author keywords

Apoptosis; Mitochondria; mtDNA; OXPHOS

Indexed keywords

ADENOSINE TRIPHOSPHATE; CALCIUM ION; CASPASE 3; CASPASE 9; CYTOCHROME B; CYTOCHROME C; ENDONUCLEASE G; FLAVOPROTEIN; MITOCHONDRIAL DNA; PROTEIN BAX; PROTEIN BCL 2; PROTEIN BCL XL; REACTIVE OXYGEN METABOLITE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; UBIQUINONE; APOPTOSIS INDUCING FACTOR; MITOCHONDRIAL PERMEABILITY TRANSITION PORE; PROTEIN BCL W; SECOND MITOCHONDRIAL ACTIVATOR OF CASPASE; SERINE PROTEINASE OMI;

APOPTOSIS; CELL CYCLE PROGRESSION; CELL DIFFERENTIATION; CELL GROWTH; CELL SIGNALING ASSAY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA REPAIR; ENERGY; EUKARYOTE EVOLUTION; GAMETOCYTE; GENE MUTATION; GENETIC DRIFT; GROWTH, DEVELOPMENT AND AGING; HUMAN; INHERITANCE; MITOCHONDRION; MUSCLE WEAKNESS; NONHUMAN; OXIDATIVE PHOSPHORYLATION; OXIDATIVE STRESS; POINT MUTATION; REVIEW; SIGNAL TRANSDUCTION; ARTICLE; ASTROCYTOMA; BIOGENESIS; DNA REPLICATION; ELECTRON TRANSPORT; ENERGY RESOURCE; GLIOBLASTOMA; LIVER CELL CARCINOMA; MELAS SYNDROME; MEMBRANE PERMEABILITY; MOLECULAR ECOLOGY; PHYLOGEOGRAPHY; WALKER WARBURG SYNDROME;

AGING; ANIMALS; BIOLOGICAL EVOLUTION; DNA, MITOCHONDRIAL; ENERGY METABOLISM; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; NEOPLASMS; SIGNAL TRANSDUCTION;

EID: 84891875291     PISSN: 15665240     EISSN: 18755666     Source Type: Journal    
DOI: 10.2174/15665240113136660081     Document Type: Review

References (106)

1. O'Rourke B. From bioblasts to mitochondria: ever expanding roles of mitochondria in cell physiology. Front Physiol 2010; 1: 7.
2. Kagawa Y. History of research on mammalian mitochondria and mtDNA. Tanpakushitsu kakusan koso 2005; 50: 1723-5.
3. Ernster L, Schatz G. Mitochondria: a historical review. J Cell Biol 1981; 91: 227-55.
4. Andersson SG, Kurland CG. Origins of mitochondria and hydrogenosomes. Curr Opin Microbiol 1999; 2: 535-41.
5. Anderson S, Bankier AT, arrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981; 290: 457-65.
6. Holt IJ, Harding AE, Morgan-Hughes, JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988; 331: 717-9.
7. Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988; 242: 1427-30.
8. Pogozelski WK, Fletcher LD, Cassar CA, Dunn DA, Trounce IA, Pinkert CA. The mitochondrial genome sequence of Mus terricolor: comparison with Mus musculus domesticus and implications for xenomitochondrial mouse modeling. Gene 2008; 418: 27-33.
9. Emelyanov VV. Common evolutionary origin of mitochondrial and rickettsial respiratory chains. Arch Biochem Biophy 2003; 420: 130-41.
10. Fitzpatrick DA, Creevey CJ, McInerney JO. Genome phylogenies indicate a meaningful alpha-proteobacterial phylogeny and support a grouping of the mitochondria with the Rickettsiales. Mol Biol Evol 2006; 23: 74-85.
11. Williams KP, Sobral BW, Dickerman AW. A robust species tree for the alphaproteobacteria. J Bacteriol 2007; 189: 4578-86.
12. Wu M, Sun LV, Vamathevan J, et al. Phylogenomics of the reproductive parasite Wolbachia pipientis wMel: a streamlined genome overrun by mobile genetic elements. PLoS Biol 2004; 2: 0327-41.
13. Esser C, Ahmadinejad N, Wiegand C, et al. A genome phylogeny for mitochondria among alpha-proteobacteria and a predominantly eubacterial ancestry of yeast nuclear genes. Mol Biol Evol 2004; 21: 1643-60.
14. Emelyanov VV. Rickettsiaceae, rickettsia-like endosymbionts, and the origin of mitochondria. Biosci Rep 2001; 21: 1-17.
15. Tsaousis AD, Kunji ER, Goldberg AV, Lucocq JM, Hirt RP, Embley TM. A novel route for ATP acquisition by the remnant mitochondria of Encephalitozoon cuniculi. Nature 2008; 453: 553-6.
16. Mounolou JC, Lacroute F. Mitochondrial DNA: an advance in eukaryotic cell biology in the 1960s. Biol Cell 2005; 97: 743-8.
17. White DJ, Wolff JN, Pierson M, Gemmell NJ. Revealing the hidden complexities of mtDNA inheritance. Mol Ecol 2008; 17: 4925-42.
18. Dawid IB, Blackler AW. Maternal and cytoplasmic inheritance of mitochondrial DNA in Xenopus. Dev Biol 1972; 29: 152-61.
19. Kaneda H, Hayashi J, Takahama S, Taya C, Lindahl KF, Yonekawa H. Elimination of paternal mitochondrial DNA in intraspecific crosses during early mouse embryogenesis. Proc Natl Acad Sci USA 1995; 92: 4542-6.
20. Nishimura Y, Yoshinari T, Naruse K, et al. Active digestion of sperm mitochondrial DNA in single living sperm revealed by optical tweezers. Proc Natl Acad Sci USA 2006; 103: 1382-7.
21. Thompson WE, Ramalho-Santos J, Sutovsky P. Ubiquitination of prohibitin in mammalian sperm mitochondria: possible roles in the regulation of mitochondrial inheritance and sperm quality control. Biol Reprod 2003, 69: 254-60.
22. Larsson NG, Oldfors A, Garman JD, Barsh G.S, Clayton DA. Down-regulation of mitochondrial transcription factor A during spermatogenesis in humans. Hum Mol Genet 1997; 6: 185-91.
23. Guo XH, Liu SJ, Liu Y. Evidence for recombination of mitochondrial DNA in triploid crucian carp. Genetics 2006; 172: 1745-9.
24. Kraytsberg Y, Schwartz M, Brown TA, et al. Recombination of human mitochondrial DNA. Science 2004; 304: 981.
25. Ladoukakis ED, Zouros E. Direct evidence for homologous recombination in mussel (Mytilus galloprovincialis) mitochondrial DNA. Mol Biol Evol 2001; 18:1168-75.
26. Saville BJ, Kohli Y, Anderson JB. mtDNA recombination in a natural population. Proc Natl Acad Sci USA 1998; 95: 1331-5.
27. Thyagarajan B, Padua RA, Campbell C. Mammalian mitochondria possess homologous DNA recombination activity. J Biol Chem 1996; 271: 27536-43.
28. Gyllensten U, Wharton D, Josefsson A, Wilson AC. Paternal inheritance of mitochondrial DNA in mice. Nature 1991; 352: 255-7.
29. Kondo R, Satta Y, Matsuura ET, Ishiwa H, Takahata N, Chigusa SI. Incomplete maternal transmission of mitochondrial DNA in Drosophila. Genetics 1990; 126: 657-63.
30. Kvist L, Martens J, Nazarenko AA, Orell M. Paternal leakage of mitochondrial DNA in the great tit (Parus major). Mol Biol Evol 2003; 20: 243-7.
31. Ujvari B, Dowton M, Madsen T. Mitochondrial DNA recombination in a free-ranging Australian lizard. Biol Lett 2007; 3: 189-92.
32. Zouros E, Freeman KR, Ball AO, Pogson GH. Direct evidence for extensive paternal mitochondrial DNA inheritance in the marine mussel Mytilus. Nature 1992; 359: 412-4.
33. Bonne-Tamir B, Korostishevsky M, Redd AJ, Pel-Or Y, Kaplan ME, Hammer MF. Maternal and paternal lineages of the Samaritan isolate: mutation rates and time to most recent common male ancestor. Ann Hum Genet 2003; 67: 153-64.
34. Haag-Liautard C, Coffey N, Houle D, Lynch M, Charlesworth B, Keightley PD. Direct estimation of the mitochondrial DNA mutation rate in Drosophila melanogaster. PLoS Biol 2008; 6: 1706-14.
35. Howell N, Kubacka I, Mackey DA. How rapidly does the human mitochondrial genome evolve? Am J Hum Genet 1996; 59: 501-9.
36. Parsons TJ, Muniec DS, Sullivan K, et al. A high observed substitution rate in the human mitochondrial DNA control region. Nat Genet 1997; 15: 363-8.
37. Nabholz B, Glemin S, Galtier N. Strong variations of mitochondrial mutation rate across mammals--the longevity hypothesis. Mol Biol Evol 2008; 25:120-30.
38. Pesole G., Gissi C, De Chirico A, Saccone C. Nucleotide substitution rate of mammalian mitochondrial genomes. J Mol Evol 1999; 48: 427-34.
39. Stoneking M. Hypervariable sites in the mtDNA control region are mutational hotspots. Am J Hum Genet 2000; 67: 1029-32.
40. Hurst GD, Jiggins FM. Problems with mitochondrial DNA as a marker in population, phylogeographic and phylogenetic studies: the effects of inherited symbionts. Proc Biol Sci 2005; 272: 1525-34.
41. Wojewoda M, Zablocki K, Szczepanowska J. Diseases caused by mutations in mitochondrial DNA. Postepy Biochem 2011; 57: 222-9.
42. Kowald A. The mitochondrial theory of aging: do damaged mitochondria accumulate by delayed degradation? Exp Gerontol 1999; 34: 605-12.
43. Marchi S, Giorgi C, Suski JM, et al. Mitochondria-ros crosstalk in the control of cell death and aging. J Signal Transduct 2012; 2012: 329635.
44. Wang C, Youle RJ. The role of mitochondria in apoptosis. Annu Rev Genet 2009; 43: 95-118.
45. Gross A, McDonnell JM, Korsmeyer SJ. BCL-2 family members and the mitochondria in apoptosis. Genes Dev 1999; 13: 1899-911.
46. Kuwana T, Newmeyer DD. Bcl-2-family proteins and the role of mitochondria in apoptosis. Curr Opin Cell Biol 2003; 15: 691-9.
47. Tsujimoto Y, Shimizu S. Bcl-2 family: life-or-death switch. FEBS Lett 2000; 466: 6-10.
48. Liu X, Kim CN, Yang J, Jemmerson R, Wang X. Induction of apoptotic program in cell-free extracts: requirement for dATP and cytochrome c. Cell 1996; 86: 147-57.
49. Du C, Fang M, Li Y, Li L, Wang X. Smac, a mitochondrial protein that promotes cytochrome c-dependent caspase activation by eliminating IAP inhibition. Cell 2000; 102: 33-42.
50. Hegde R, Srinivasula SM, Zhang Z, et al. Identification of Omi/HtrA2 as a mitochondrial apoptotic serine protease that disrupts inhibitor of apoptosis protein-caspase interaction. J Biol Chem 2002; 277: 432-8.
51. Susin SA, Lorenzo HK, Zamzami N, et al. Molecular characterization of mitochondrial apoptosis-inducing factor. Nature 1999; 397: 441-6.
52. Li LY, Luo X, Wang X. Endonuclease G is an apoptotic DNase when released from mitochondria. Nature 2001; 412: 95-9.
53. Karu TI. Mitochondrial signaling in mammalian cells activated by red and near-IR radiation. Photochem Photobiol 2008; 84: 1091-9.
54. Goldenthal MJ, Marin-Garcia J. Mitochondrial signaling pathways: a receiver/integrator organelle. Mol Cell Biochem 2004; 262: 1-16.
55. Butow RA, Avadhani NG. Mitochondrial signaling: the retrograde response. Mol Cell 2004; 14: 1-15.
56. Das AM, Harris DA. Control of mitochondrial ATP synthase in rat cardiomyocytes: effects of thyroid hormone. Biochim Biophys Acta 1991; 1096: 284-90.
57. Oldenburg O, Cohen MV, Yellon DM, Downey JM. Mitochondrial K(ATP) channels: role in cardioprotection. Cardiovasc Res 2002; 55: 429-37.
58. Cleeter MW, Cooper JM, Darley-Usmar VM, Moncada S, Schapira AH. Reversible inhibition of cytochrome c oxidase, the terminal enzyme of the mitochondrial respiratory chain, by nitric oxide. Implications for neurodegenerative diseases. FEBS Lett 1994; 345: 50-4.
59. Liu Z, Butow RA. Mitochondrial retrograde signaling. Annu Rev Genet 2006; 40: 159-85.
60. McBride HM, Neuspiel M, Wasiak S. Mitochondria: more than just a powerhouse. Curr Biol 2006; 16: R551-60.
61. Rehman J. Empowering self-renewal and differentiation: the role of mitochondria in stem cells. J Mol Med 2010; 88: 981-6.
62. Cho YM, Kwon S, Pak YK, et al. Dynamic changes in mitochondrial biogenesis and antioxidant enzymes during the spontaneous differentiation of human embryonic stem cells. Biochem Biophys Res Commun 2006; 348: 1472-8.
63. Facucho-Oliveira JM, Alderson J, Spikings EC, Egginton S, John JCS. Mitochondrial DNA replication during differentiation of murine embryonic stem cells. J Cell Sci 2007; 120: 4025-34.
64. Mandal S, Lindgren AG, Srivastava AS, Clark AT, Banerjee U. Mitochondrial function controls proliferation and early differentiation potential of embryonic stem cells. Stem Cells 2011; 29: 486-95.
65. Dickinson A, Yeung KY, Donoghue J, et al. The regulation of mitochondrial DNA copy number in glioblastoma cells. Cell Death Differ 2013; 8: 1-10.
66. Rahman S. Mitochondrial disease and epilepsy. Dev Med Child Neurol 2012; 54: 397-406.
67. Hudson G, Chinnery PF. Mitochondrial DNA polymerasegamma and human disease. Hum Mol Genet 2006; 2: R244-52.
68. Rossignol R, Faustin B, Rocher C, Malgat M, Mazat JP, Letellier T. Mitochondrial threshold effects. Biochem J 2003; 370: 751-62.
69. Dimauro S, Davidzon G. Mitochondrial DNA and disease. Ann Med 2005; 37: 222-32.
70. Brandon MC, Lott MT, Nguyen KC, et al. MITOMAP: a human mitochondrial genome database-2004 update. Nucleic Acids Res 2005; 33: D611-3.
71. Moraes CT, DiMauro S, Zeviani M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989; 320: 1293-9.
72. Zeviani M, Moraes CT, DiMauro S, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988; 38: 1339-46.
73. Goto YI, Nonaka I, Horai S. A mutation in the tRNALeu (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990; 348: 651-3.
74. Van den Ouweland J, Lemkes H, Ruitenbeek W, et al. Mutation in mitochondrial tRNALeu (UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nature Genet 1992; 1: 368-71.
75. Anu S, Jyrki k. Diseases caused by nuclear genes affecting mtDNA stability. Am J Med Genet 2001; 106: 53-61.
76. Loeffen JL, Smeitink JA, Trijbels JM, et al. Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum Mutat 2000; 15: 123-34.
77. Bénit P, Chretien D, Kadhom N, et al. Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency. Am J Hum Genet 2001; 68: 1344-52.
78. Birch-Machin MA, Taylor RW, Cochran B, Ackrell BA, Turnbull DM. Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene. Ann Neurol 2000; 48: 330-5.
79. Parfait B, Chretien D, Rotig A, Marsac C, Munnich A, Rustin P. Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. Hum Genet 2000; 106: 236-43.
80. de Lonlay P, Valnot I, Barrientos A, et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet 2001; 29: 57-60.
81. Pequignot MO, Dey R, Zeviani M, et al. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. Hum Mutat 2001; 17: 374-81.
82. Mattman A, O'Riley M, Waters PJ, et al. Diagnosis and management of patients with mitochondrial disease. BCMJ 2011; 53: 177-82.
83. Suomalainen A. Therapy for mitochondrial disorders: little proof, high research activity, some promise. Semin Fetal Neonatal Med 2011; 16: 236-40.
84. Parikh S, Saneto R, Falk MJ, et al. A modern approach to the treatment of mitochondrial disease. Curr Treat Options Neurol 2009; 11: 414-30.
85. Warburg O. On the origin of cancer cells. Science 1956; 123: 309-14.
86. Scatena, R. In: Advances in Mitochondrial Medicine; Roberto Scatena, Ed. Berlin: Springer Verlag BV 2012; Vol. 942: pp. 287-308.
87. Gogvadze V, Orrenius S, Zhivotovsky B. Mitochondria in cancer cells: what is so special about them? Trends Cell Biol 2008; 18: 165-73.
88. Maximo V, Lima J, Soares P, Sobrinho-Simoes M. Mitochondria and cancer. Virchows Arch 2009; 454: 481-95.
89. Maximo V, Soares P, Lima J, Cameselle-Teijeiro J, Sobrinho-Simoes M. Mitochondrial DNA somatic mutations (point mutations and large deletions) and mitochondrial DNA variants in human thyroid pathology: a study with emphasis on Hurthle cell tumors. Am J Pathol 2002; 160: 1857-65.
90. Polyak K, Li Y, Zhu H, et al. Somatic mutations of the mitochondrial genome in human colorectal tumours. Nat Genet 1998; 20: 291-3.
91. Abu-Amero KK, Alzahrani AS, Zou M, Shi Y. High frequency of somatic mitochondrial DNA mutations in human thyroid carcinomas and complex I respiratory defect in thyroid cancer cell lines. Oncogene 2005; 24: 1455-60.
92. Shidara Y, Yamagata K, Kanamori T, et al. Positive contribution of pathogenic mutations in the mitochondrial genome to the promotion of cancer by prevention from apoptosis. Cancer Res 2005; 65: 1655-63.
93. Astuti D, Latif F, Dallol A, et al. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 2001; 69: 49-54.
94. Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 2000; 26: 268-70.
95. DiMauro S, Tanji K, Bonilla E, Pallotti F, Schon EA. Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effects. Muscle Nerve 2002; 26: 597-607.
96. Muller-Hocker J, Seibel P, Schneiderbanger K, Kadenbach B. Different in situ hybridization patterns of mitochondrial DNA in cytochrome c oxidase-deficient extraocular muscle fibres in the elderly. Virchows Arch A Pathol Anat Histopathol 1993; 422: 7-15.
97. Chen H, Chan DC. Mitochondrial dynamics--fusion, fission, movement, and mitophagy--in neurodegenerative diseases. Hum Mol Genet 2009; 18: R169-76.
98. Miquel J, Economos AC, Fleming J, Johnson JE Jr. Mitochondrial role in cell aging. Exp Gerontol, 1980; 15: 575-91.
99. Ku H-H, Brunk UT, Sohal RS. Relationship between mitochondrial superoxide and hydrogen peroxide production and longevity of mammalian species. Free Radic Biol Med 1993; 15: 621-7.
100. Sohal RS, Sohal BH, Orr WC. Mitochondrial superoxide and hydrogen peroxide generation, protein oxidative damage, and longevity in different species of flies. Free Radic Biol Med 1995; 19: 499-504.
101. Bender A, Krishnan KJ, Morris CM, et al. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet 2006; 38: 515-7.
102. Khaidakov M, Heflich RH, Manjanatha MG, Myers MB, Aidoo A. Accumulation of point mutations in mitochondrial DNA of aging mice. Mutat Res 2003; 526: 1-7.
103. Yen TC, Su JH, King KL, Wei YH. Ageing-associated 5 kb deletion in human liver mitochondrial DNA. Biochem Biophys Res Commun 1991; 178: 124-31.
104. Lee HC, Wei YH. Mitochondria and aging. Adv Exp Med Biol 2012; 942: 311-27.
105. Bordone L, Guarente L. Calorie restriction, SIRT1 and metabolism: understanding longevity. Nat Rev Mol Cell Biol 2005; 6: 298-305.
106. Roth GS, Mattison JA, Ottinger MA, Chachich ME, Lane MA, Ingram DK. Aging in rhesus monkeys: relevance to human health interventions. Science 2004; 305: 1423-6.