Mitochondrial DNA and carcinogenesis (Review)

Molecular Medicine Reports

Volumn 6, Issue 5, 2012, Pages 923-930

  Grzybowska Szatkowska, Ludmila ^a   Slaska, Brygida ^b  

^a MEDICAL UNIVERSITY OF LUBLIN   (Poland)

^b UNIVERSITY OF LIFE SCIENCES IN LUBLIN   (Poland)

Author keywords

Cancer; Carcinogenesis; Mitochondrial DNA mutation

Indexed keywords

MITOCHONDRIAL DNA;

APOPTOSIS; CARCINOGENESIS; CELL DIFFERENTIATION; CELL ENERGY; CELL PROLIFERATION; GENE MUTATION; HETEROPLASMIC MUTATION; HOMOPLASTIC MUTATION; HUMAN; MALIGNANT TRANSFORMATION; MITOCHONDRIAL RESPIRATION; NEOPLASM; NONHUMAN; OXIDATIVE STRESS; REVIEW;

APOPTOSIS; CELL TRANSFORMATION, NEOPLASTIC; DNA, MITOCHONDRIAL; HUMANS; MITOCHONDRIA; NEOPLASMS; OXIDATIVE STRESS; REACTIVE OXYGEN SPECIES;

EID: 84866445494     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: 10.3892/mmr.2012.1027     Document Type: Review

References (100)

1. Warburg O (ed): The Metabolism of Tumors. Arnold Constable, London, UK, 1932.
2. Warburg O: On the origin of cancer cells. Science 123: 309-314, 1956.
3. Szent-Gyorgyi A: Electronic biology and cancer. In: Search and Discovery: A Tribute to Albert Szent-Gyorgyi. Kaminer B (ed). Academic Press, New York, pp329-335, 1977.
4. Krieg RC, Knuechel R, Schiffmann E, Liotta LA, Petricoin EF and Herrmann PC: Mitochondrial proteome: cancer-altered metabolism associated with cytochrome c oxidase subunit level variation. Proteomics 4: 2789-2795, 2004. (Pubitemid 39202178)
5. Ishii N, Ishii T and Hartman PS: The role of the electron transport gene SDHC on lifespan and cancer. Exp Gerontol 41: 952-656, 2006.
6. Pejovic T, Ladner D, Intengan M, Zheng K, Fairchild T, Dillon D, Easley S, Dillon D, Marchetti D, Schwartz P, et al: Somatic D-loop mitochondrial DNA mutations are frequent in uterine serous carcinoma. Eur J Cancer 40: 2519-2524, 2004. (Pubitemid 39424969)
7. Wu CW, Yin PH, Hung WY, Li AF, Li SH, Chi CW, Wei YH and Lee HC: Mitochondrial DNA mutations and mitochondrial DNA depletion in gastric cancer. Gene Chromosome Canc 44: 19-28, 2005. (Pubitemid 41060193)
8. Zanssen S and Schon EA: Mitochondrial DNA mutations in cancer. 65 PLoS Med 2: e401, 2005.
9. Brandon M, Baldi P and Wallach DC: Mitochondrial mutations in cancer. Oncogene 25: 4647-4662, 2006. (Pubitemid 44187615)
10. Czarnecka M and Bartnik E: Mitochondrial DNA mutations in tumors. In: Cellular Respiration and Carcinogenesis. Apte SP and Sarangarajan R (eds). Humana Press, New York, pp119-130, 2009.
11. Adachi H, Fujiwara Y and Ishii N: Effects of oxygen on protein carbonyl and aging in Caenorhabditis elegans mutants with long (age-1) and short (mev-1) life spans. J Gerontol A Biol Sci Med Sci 53: B240-B244, 1998. (Pubitemid 28354730)
12. Senoo-Matsuda N, Yasuda K, Tsuda M, Ohkubo T, Yoshimura S, Nakazawa H, Hartman PS and Ishii N: A defect in the cytochrome b large subunit in complex II causes both superoxide anion overproduction and abnormal energy metabolism in Caenorhabditis elegans. J Biol Chem 276: 41553-41558, 2001.
13. Lehtonen R, Kiuru M, Vanharanta S, Sjöberg J, Aaltonen LM, Aittomäki K, Arola J, Butzow R, Eng C, Husgafvel-Pursiainen K, et al: Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors. Am J Pathol 164: 17-22, 2004. (Pubitemid 38364585)
14. Benn DE, Croxson MS, Tucker K, Bambach CP, Richardson AL, Delbridge L, Pullan PT, Hammond J, Marsh DJ and Robinson BG: Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas Oncogene 22: 1358-1364, 2003. (Pubitemid 36384597)
15. Bayley JP, Devilee P and Taschner PE: The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. BMC Med Genet 16: 39, 2005.
16. Bayley JP, van Minderhout I, Weiss MM, Jansen JC, Oomen PH, Menko FH, Pasini B, Ferrando B, Wong N, Alpert LC, et al: Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma. BMC Med Genet 7: 1, 2006.
17. Floriańczyk B and Grzybowska L: Metallothionein and zinc level in breast cancer. J Tumor Marker Oncol 14: 23-27, 1999.
18. Qu F, Liu X, Zhou F, Yang H, Bao G, He X and Xing J: Association between mitochondrial DNA content in leukocytes and colorectal cancer risk. Cancer 117: 3148-3155, 2011.
19. Yu M, Zhou Y, Shi Y, Ning L, Yang Y, Wei X, Zhang N, Hao X and Niu R: Reduced mitochondrial DNA copy number is correlated with tumor progression and prognosis in Chinese breast cancer patients. IUBMB Life 59: 450-457, 2007. (Pubitemid 47124001)
20. Lan Q, Lim U, Liu CS, Weinstein SJ, Chanock S, Bonner RM, Virtamo R, Albanes D and Rothman N: A prospective study of mitochondrial DNA copy number and risk of non-Hodgkin lymphoma. Blood 112: 4247-4249, 2008.
21. Hosgood HD III, Liu CS, Rothman N, Weinstein SJ, Bonner MR, Shen M, Lim U, Virtamo J, Cheng WL, Albanes D and Lan Q: Mitochondrial DNA copy number and lung cancer risk in a prospective cohort study. Carcinogenesis 31: 847-849, 2010.
22. Anderson S, Bankier AT, Barrell BG, de Bruijn MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, et al: Sequence and organization of the human mitochondrial genome. Nature 290: 457-465, 1981. (Pubitemid 11159074)
23. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM and Howell N: Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23: 147, 1999. (Pubitemid 29455385)
24. Augenlicht LH and Heerdt BG: Mitochondria: integrators in tumorigenesis? Nat Genet 28: 104-105, 2001. (Pubitemid 32538047)
25. Wallace DC: Mitochondrial diseases in man and mouse. Science 283: 1482-1488, 1999.
26. Kanno T, Sato EE, Muranaka S, Fujita H, Fujiwara T, Utsumi T, Inoue M and Utsumi K: Oxidative stress underlies the mechanism for Ca(2+)-induced permeability transition of mitochondria. Free Radic Res 38: 27-35, 2004. (Pubitemid 38128512)
27. Lyamzaev KG, Izyumov DS, Avetisyan AV, Yang F, Pletjushkina OY and Chernyak BV: Inhibition of mitochondrial bioenergetics: the effects on structure of mitochondria in the cell and on apoptosis. Acta Biochim Pol 51: 553-562, 2004. (Pubitemid 38969314)
28. Levraut J, Iwase H, Shao ZH, Vanden Hoek TL and Schumacker PT: Cell death during ischemia: relationship to mitochondrial depolarization and ROS generation. Am J Physiol Heart Circ Physiol 284: 549-558, 2003.
29. Petrosillo G, Ruggiero FM, Pistolese M and Paradies G: Ca2+-induced reactive oxygen species production promotes cytochrome c release from rat liver mitochondria via mitochondrial permeability transition (MPT)-dependent and MPT-independent mechanisms: role of cardiolipin. J Biol Chem 279: 53103-53108, 2004. (Pubitemid 40051811)
30. Modica-Napolitano JS, Kulawiec M and Singh KK: Mitochondria and human cancer. Curr Mol Med 7: 121-131, 2007. (Pubitemid 46322283)
31. Chen LB: Mitochondrial membrane potential in living cells. Annu Rev Cell Biol 4: 155-181, 1988.
32. Chen Q, Chai YC, Mazumder S, Jiang C, Macklis RM, Chisolm GM and Almasan A: The late increase in intracellular free radical oxygen species during apoptosis is associated with cytochrome c release, caspase activation and mitochondrial dysfunction. Cell Death Differ 10: 323-334, 2003. (Pubitemid 36582370)
33. Baggetto LG: Mitochondrie et cancer. Reg Biochim 5: 48-54, 1992.
34. Kaelin WG Jr: SDH5 mutations and familial paraganglioma: somewhere Warburg is smiling. Cancer Cell 16: 180-182, 2009.
35. Dahia PLM, Ross K, Wright ME, Hayashida CY, Santagata S,Barontini M, Kung AL, Sanso G, Powers JF, Tischler AS, et al: A HIF1&alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet 1: 72-80, 2005.
36. Isaacs JS, Jung YJ, Mole DR, Lee S, Torres-Cabala C, Chung YL, Merino M, Trepel J, Zbar B, Toro J, et al: HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. Cancer Cell 8: 143-153, 2005. (Pubitemid 41132743)
37. Baysal BE: Role of mitochondrial mutations in cancer. Endocr Pathol 17: 203-212, 2006.
38. Green DR and Reed JC: Mitochondria and apoptosis. Science 281: 1309-1316, 1998.
39. Coller HA, Khrapko K, Bodyak ND, Nekhaeva E, Herrero-Jimenez P and Thilly WG: High frequency of homoplasmic mitochondrial DNA mutations in human tumors can be explained without selection. Nat Genet 28: 147-150, 2001. (Pubitemid 32538059)
40. Jones JB, Song JJ, Hempen PM, Parmigiani G, Hruban RH and Kern SE: Detection of mitochondrial DNA mutations in pancreatic cancer offers a 'mass'-ive advantage over detection of nuclear DNA mutations. Cancer Res 61: 1299-1304, 2001. (Pubitemid 34292546)
41. Reid R: Can migratory mitochondria DNA activate oncogenes? Trends Biochem Sci 8: 190-191, 1983.
42. Shay JW and Werbin H: New evidence for the insertion of mitochondrial DNA into the human genome: significance for cancer and aging. Mutat Res 275: 227-235, 1992.
43. Wallace DC: Mitochondrial DNA sequence variation in human evolution and disease. Proc Natl Acad Sci USA 91: 8739-8746, 1994.
44. Collura RV and Stewart CB: Insertions and duplications of mtDNA in the nuclear genomes of Old World monkeys and hominoides. Nature 378: 485-489, 1995.
45. Zischler H, Geisert H and Castresana J: A hominoid-specific nuclear insertion of the mitochondrial D-loop: implications for reconstructing ancestral mitochondrial sequences. Mol Biol Evol 15: 463-469, 1998. (Pubitemid 28153157)
46. Corral M, Paris B, Baffet G, Tichonicky L, Guguengillouzo C, Kruh J and Defer N: Increased level of the mitochondrial ND5 transcript in chemically induced rat hepatomas. Exp Cell Res 184: 158-166, 1989. (Pubitemid 19233397)
47. Brown MD, Starikovskaya YB, Derbeneva O, Hosseini S, Allen JC, Mikhailovskaya IE, Sukernik RI and Wallace EC: The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western European halogroup J. Hum Genet 110: 130-138, 2002. (Pubitemid 36067429)
48. Koilkonda RD and Guy J: Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside. J Ophthalmol: 179412, 2011.
49. de la Chapelle A and Peltomaki P: The genetics of hereditary common cancers. Curr Opin Genet Dev 8: 298-303, 1998.
50. Peltomaki P: DNA mismatch repair and cancer. Rev Mutat Res 488: 77-85, 2001.
51. Welter C, Kovacs G, Seitz G and Blin N: Alteration of mitochondrial DNA in human oncocytomas. Gene Chromosome Canc 1: 79-82, 1989. (Pubitemid 20093342)
52. Fliss MS, Usadel H, Caballero OL, Wu L, Buta MR, Eleff SM, Jen J and Sidransky D: Facile detection of mitochondrial DNA mutations in tumors and bodily fluids. Science 287: 2017-2019, 2000. (Pubitemid 30158678)
53. Parrella P, Xiao Y, Fliss M, Sanchez-Cespedes M, Mazzarelli P and Rinaldi M: Detection of mitochondrial DNA mutations in primary breast cancer and fine-needle aspirates. Cancer Res 61: 7623-7626, 2001. (Pubitemid 32995057)
54. Yeh JJ, Lunetta KL, van Orsouw NJ, Moore FD Jr, Mutter GL, Vijg J, Dahia PL and Eng C: Somatic mitochondrial DNA (mtDNA) mutations in papillary thyroid carcinomas and differential mtDNA sequence variants in cases with thyroid tumours. Oncogene 19: 2060-2066, 2000. (Pubitemid 30229419)
55. Szatkowska L, Rzymowska J, Brzozowska A and Mazurkiewicz M: Mutations in the mitochondrial DNA (mtDNA) in breast cancer tissue. Breast 12: 27, 2005.
56. Grzybowska-Szatkowska L and Slaska B: Polymorphisms in genes encoding mt-tRNA in female breast cancer in Poland. Mitochondrial DNA 23: 106-111, 2012.
57. Petros JA, Baumann AK, Ruiz-Pesini E, Amin MB, Sun CQ, Hall J, Lim S, Issa MM, Flanders WD, Hosseini SH, et al: MtDNA mutations increase tumorigenicity in prostate cancer. PNAS 102: 719-724, 2005. (Pubitemid 40282732)
58. Ruiz-Pesini E, Mishmar D, Brandon M, Procaccio V and Wallace DC: Effects of purifying and adaptive selection on regional variation in human mtDNA. Science 303: 223-226, 2004. (Pubitemid 38057570)
59. Herrmann PC, Gillespie JW, Charboneau L, Bichsel VE, Paweletz CP, Calvert VS, Kohn EC, Emmert-Buck MR, Liotta LA and Petricoin EF: Mitochondrial proteome: Altered cytochrome c oxidase subunit levels in prostate cancer. Proteomics 3: 1801-1810, 2003. (Pubitemid 37129826)
60. Polyak K, Li Y, Zhu H, Lengauer C, Willson JKV, Markowitz SD, Trush MA, Kinzler KW and Vogelstein B: Somatic mutations of the mitochondrial genome in human colorectal tumours. Nat Genet 20: 291-293, 1998. (Pubitemid 28507677)
61. Gattermann N, Retzlaff S, Wang YL, Hofhaus G, Heinisch J, Aul C and Schneider W: Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia. Blood 90: 4961-4972, 1997. (Pubitemid 28007212)
62. Gattermann N, Wulfert M and Hofhaus G: How frequent is mutation in the mitochondrial cytochrome c oxidase gene in patients with myelodysplastic syndromes? Br J Haematol 119: 1139-1140, 2002. (Pubitemid 35463846)
63. Reddy PL, Shetty VT, Dutt D, York A, Dar S, Mundle SD, Allampallam K, Alvi S, Galili N, Saberwal GS, et al: Increased incidence of mitochondrial cytochrome c-oxidase gene mutations in patients with myelodysplastic syndromes. Brit J Haematol 116: 564-575, 2002. (Pubitemid 34178655)
64. Salas A, Yao YG, Macaulay V, Vega A, Carracedo A and Bandelt HJ: A critical reassessment of the role of mitochondria in tumorigenesis. PLoS Med 11: e296, 2005.
65. Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, Scozzari R, Cruciani F, Zeviani M, Briem E, Carelli V, et al: The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet 75: 910-918, 2004. (Pubitemid 39390500)
66. Achilli A, Rengo C, Battaglia V, Pala M, Olivieri A, Fornarino S, Magri C, Scozzari R, Babudri N, Santachiara-Benerecetti AS, et al: Saami and Berbers - an unexpected mitochondrial DNA link. Am J Hum Genet 76: 883-886, 2005. (Pubitemid 40563109)
67. Lee HC, Yin PH, Lin JC, Wu CC, Chen CY, Wu CW, Chi CW, Tam TN and Wei YH: Mitochondrial genome instability and mtDNA depletion in human cancers. Ann NY Acad Sci 1042: 109-122, 2005.
68. Tseng LM, Yin PH, Chi CW, Hsu CY, Wu CW, Lee LM, Wei YH and Lee HC: Mitochondrial DNA mutations and mitochondrial DNA depletion in breast cancer. Genes Chromosomes Cancer 45: 629-638, 2006.
69. Liu VWS, Shi HH, Cheung ANY, Chiu PM, Leung TW, Nagley P, Wong LC and Ngan HYS: High incidence of somatic mitochondrial DNA mutations in human ovarian carcinomas. Cancer Res 61: 5998-6001, 2001. (Pubitemid 32762527)
70. Miyazono F, Schneider PM, Metzger R, Warnecke-Eberz U, Baldus SE, Dienes HP, Aikou T and Hoelscher AH: Mutations in the mitochondrial DNA D-Loop region occur frequently in adenocarcinoma in Barrett's esophagus. Oncogene 21: 3780-3783, 2002. (Pubitemid 34620540)
71. Hibi K, Nakayama H, Yamazaki T, Takase T, Taguchi M, Kasai Y, Ito K, Akiyama S and Nakao A: Mitochondrial DNA alteration in esophageal cancer. Int J Cancer 92: 319-321, 2001. (Pubitemid 32249704)
72. Okochi O, Hibi K, Uemura T, Inoue S, Takeda S and Kaneko T: Detection of mitochondrial DNA alterations in the serum of hepatocellular carcinoma patients. Clin Cancer Res 8: 2875-2878, 2002. (Pubitemid 35025733)
73. Aure K, Fayet G, Leroy JP, Lacène E, Romero NB and Lombès A: Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation. Brain 129: 1249-1259, 2006.
74. Romanov SR, Kozakiewicz BK, Holst CR, Stampfer MR, Haupt LM and Tlsty TD: Normal human mammary epithelial cells spontaneously escape senescence and acquire genomic changes. Nature 409: 633-637, 2001. (Pubitemid 32154817)
75. Tseng LM, Yin PH, Tsai Y-F, Chi CW, Wu CW, Lee LM and Lee HC: Association between mitochondrial DNA 4,977 bp deletion and NAD(P)H: Quinone oxidoreductase 1 C609T polymorphism in human breast tissues. Oncol Rep 21: 1169-1174, 2009.
76. Zhu W, Qin W, Bradley P, Wessel A, Puckett CL and Sauter ER: Mitochondrial DNA mutations in breast cancer tissue and in matched nipple aspirate fluid. Carcinogenesis 26: 145-152, 2005. (Pubitemid 40207709)
77. Ling XL, Fang DC, Wang RQ, Yang SM and Fang L: Mitochondrial microsatellite instability in gastric cancer and its precancerous lesions. World J Gastroenterol 15: 800-803, 2004.
78. Burgart LJ, Zheng J, Shu Q, Strickler JG and Shibata D: Somatic mitochondrial mutation in gastric cancer. Am J Pathol 147: 1105-1111, 1995.
79. Kose K, Hiyama T, Tanaka S, Yoshihara M, Yasui W and Chayama K: Somatic mutations of mitochondrial DNA in digestive tract cancers. J Gastroenterol Hepatol 20: 1679-1684, 2005. (Pubitemid 43961072)
80. Lièvre A, Blons H, Houllier A M, Laccourreye O, Brasnu D, Beaune P and Laurent-Puig P: Clinicopathological significance of mitochondrial D-Loop mutations in head and neck carcinoma. Brit J Cancer 94: 692-697, 2006. (Pubitemid 43361901)
81. Tan DJ, Bai RK and Wong LJC: Comprehensive scanning of somatic mitochondrial DNA mutations in breast cancer. Cancer Res 62: 972-976, 2002.
82. Liu VW, Wang Y, Yang HJ, Tsang PC, Ng TY, Wong LC, Nagley P and Ngan HY: Mitochondrial DNA variant 16189T>C is associated with susceptibility to endometrial cancer. Hum Mutat 22: 173-174, 2003. (Pubitemid 36950816)
83. Canter JA, Kallianpur AR, Parl FF and Millikan RC: Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women. Cancer Res 65: 8028-8033, 2005. (Pubitemid 41297284)
84. Mims MP, Hayes TG, Zheng S, Leal SM, Frolov A, Ittmann MM, Wheeler TM and Prchal JT: Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women. Cancer Res 66: 1880; author reply 1880-1881, 2006.
85. Czarnecka AM, Krawczyk T, Zdrożny M, Lubiñski J, Arnold RS, Kukwa W, Ścińska A, Golik P, Bartnik E and Petros JA: Mitochondrial NADH-dehydrogenase subunit 3 (ND3) polymorphism (A10398G) and sporadic breast cancer in Poland. Breast Cancer Res Treat 121: 511-518, 2010.
86. Darvishi K, Sharma S, Bhat AK, Rai E and Bamezai RN: Mitochondrial DNA G10398A polymorphism imparts maternal Haplogroup N a risk for breast and esophageal cancer. Cancer Lett 249: 249-255, 2007. (Pubitemid 46452933)
87. Setiawan VW, Chu LH, John EM, Ding YC, Ingles SA, Bernstein L, Press MF, Ursin G, Haiman CA and Neuhausen SL: Mitochondrial DNA G10398A variant is not associated with breast cancer in African-American women. Cancer Genet Cytogenet 181: 16-19, 2008. (Pubitemid 351192037)
88. Majamaa K, Finnilä S, Turkka J and Hassinen IE: Mitochondrial DNA haplogroup U as a risk factor for occipital stroke in migraine. Lancet 352: 455-456, 1998. (Pubitemid 28362800)
89. Finnila S, Hassinen IE and Majamaa K: Phylogenetic analysis of mitochondrial DNA in patients with an occipital stroke: Evaluation of mutations by using sequence data on the entire coding region. Mutat Res 458: 31-39, 2001. (Pubitemid 34246234)
90. Montiel-Sosa F, Ruiz-Pesini E, Enríquez JA, Marcuello A, Díez-Sánchez C, Montoya J, Wallace DC and López- Pérez MJ: Differences of sperm motility in mitochondrial DNA haplogroup U sublineages. Gene 368: 21-27, 2006. (Pubitemid 43290138)
91. Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R, Obinu D, Savontaus ML and Wallace DC: Classification of european mtDNAs from an analysis of three European populations. Genetics 144: 1835-1850, 1996. (Pubitemid 26427929)
92. Torroni A, Carelli V, Petrozzim M, Terracina M, Barboni P, Malpassi P, Wallace DC and Scozzari R: Detection of the mtDNA 14484 mutation on an African-specific haplotype. Implications about its role in causing Leber hereditary optic neuropathy. Am J Hum Genet 59: 248-252, 1996. (Pubitemid 26189750)
93. Hutchin T and Cortopass G: A mitochondrial DNA clone is associated with increased risk for Alzheimer disease. Proc Natl Acad Sci USA 92: 6892-6895, 1995.
94. Zeviani M and Di Donato S: Mitochondrial tRNA mutations and disease. Brain 127: 2153-2172, 2004.
95. Maniura-Weber K, Helm M, Engemann K, Eckertz S, Mollers M, Schauen M, Hayrapetyan A, von Kleist-Retzow JC, Lightowlers RN, Bindoff L A and Wiesner RJ: Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene. Nucleic Acids Res 34: 6404-6415, 2006. (Pubitemid 46017940)
96. Bianchi NO, Bianchi MS and Richard SM: Mitochondrial genome instability in human cancers. Mutat Res 488: 9-23, 2001. (Pubitemid 32166780)
97. Kumimoto Y, Yamane Y Nishimoto H, Fukami M, Shinoda S, Hatooka K and Ishizaki K: Frequent somatic mutations of mitochondrial DNA in esophageal squamous cell carcinoma. Int J Cancer 108: 228-231, 2004. (Pubitemid 37541775)
98. Attardi G, Yoneda M and Chomyn A: Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems. Biochim Biophys Acta 1271: 241-248, 1995.
99. Kaplan NL, Hudson RR and Langley CH: The 'hitchhiking effect' revisited. Genetics 123: 887-889, 1989.
100. Hofhaus G and Gattermann N: Mitochondria harbouring mutant mtDNA-a cuckoo in the nest? Biol Chem 380: 871-877, 1999. (Pubitemid 29412744)