Mitochondrial DNA instability in human cancers

Formosan Journal of Surgery

Volumn 46, Issue 3, 2013, Pages 71-75

  Lin, Chen Sung ^a,b   Wang, Liang Shun ^a,c,d  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b Taipei Hospital   (Taiwan)

^c TAIPEI MEDICAL UNIVERSITY   (Taiwan)

^d TAIPEI MEDICAL UNIVERSITY   (Taiwan)

Author keywords

Copy number; D310; Displacement loop (Dloop); Human cancers; Mitochondrial DNA (mtDNA); Warburg effect

Indexed keywords

BIOLOGICAL MARKER; MITOCHONDRIAL DNA;

CANCER GROWTH; CARCINOGENESIS; CELLULAR, SUBCELLULAR AND MOLECULAR BIOLOGICAL PHENOMENA AND FUNCTIONS; COPY NUMBER VARIATION; D310 GENE; DNA DAMAGE; DRUG RESISTANCE; GENE; GENE MUTATION; GENOMIC INSTABILITY; HETEROPLASMY; HOMOPLASY; HUMAN; MALIGNANT NEOPLASTIC DISEASE; MITOCHONDRIAL RESPIRATION; PRIORITY JOURNAL; SHORT SURVEY; WARBURG EFFECT;

EID: 84891344656     PISSN: 1682606X     EISSN: 22135413     Source Type: Journal    
DOI: 10.1016/j.fjs.2013.04.002     Document Type: Review

References (51)

1. Lodish H, Berk A, Zipursky L, Matsudaira P, Baltimore D, Darnell J. Cellular energetics. Mol Cell Biol; 2004:301-347.
2. Warburg O. On respiratory impairment in cancer cells. Science. 1956;124:269-270.
3. Warburg O. On the origin of cancer cells. Science. 1956;123:309-314.
4. Warburg O. Origin of cancer cells. Oncologia. 1956;9:75-83.
5. Kim JW, Dang CV. Cancer's molecular sweet tooth and the Warburg effect. Cancer Res. 2006;66:8927-8930.
6. Chan DC. Mitochondria: dynamic organelles in disease, aging, and development. Cell. 2006;125:1241-1252.
7. Lee HC, Wei YH. Mitochondrial biogenesis and mitochondrial DNA maintenance of mammalian cells under oxidative stress. Int J Biochem Cell Biol. 2005;37:822-834.
8. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet. 1999;23:147.
9. Moraes CT. What regulates mitochondrial DNA copy number in animal cells? Trends Genet. 2001;17:199-205.
10. Lecrenier N, Foury F. New features of mitochondrial DNA replication system in yeast and man. Gene. 2000;246:37-48.
11. Asin-Cayuela J, Gustafsson CM. Mitochondrial transcription and its regulation in mammalian cells. Trends Biochem Sci. 2007;32:111-117.
12. Ekstrand MI, Falkenberg M, Rantanen A, et al. Mitochondrial transcription factor A regulates mtDNA copy number in mammals. Hum Mol Genet. 2004;13:935-944.
13. Poulsen HE. Oxidative DNA modifications. Exp Toxicol Pathol. 2005;57:161-169.
14. Waris G, Ahsan H. Reactive oxygen species: role in the development of cancer and various chronic conditions. J Carcinog. 2006;5:14.
15. Brandon M, Baldi P, Wallace DC. Mitochondrial mutations in cancer. Oncogene. 2006;25:4647-4662.
16. Chatterjee A, Mambo E, Sidransky D. Mitochondrial DNA mutations in human cancer. Oncogene. 2006;25:4663-4674.
17. Lightowlers RN, Chinnery PF, Turnbull DM, Howell N. Mammalian mitochondrial genetics: heredity, heteroplasmy and disease. Trends Genet. 1997;13:450-455.
18. Croteau DL, Stierum RH, Bohr VA. Mitochondrial DNA repair pathways. Mutat Res. 1999;434:137-148.
19. Wallace DC. A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Annu Rev Genet. 2005;39:359-407.
20. Yakes FM, Van Houten B. Mitochondrial DNA damage is more extensive and persists longer than nuclear DNA damage in human cells following oxidative stress. Proc Natl Acad Sci U S A. 1997;94:514-519.
21. Fliss MS, Usadel H, Caballero OL, et al. Facile detection of mitochondrial DNA mutations in tumors and bodily fluids. Science. 2000;287:2017-2019.
22. Chen JZ, Gokden N, Greene GF, Mukunyadzi P, Kadlubar FF. Extensive somatic mitochondrial mutations in primary prostate cancer using laser capture microdissection. Cancer Res. 2002;62:6470-6474.
23. Tan DJ, Bai RK, Wong LJ. Comprehensive scanning of somatic mitochondrial DNA mutations in breast cancer. Cancer Res. 2002;62:972-976.
24. Matsuyama W, Nakagawa M, Wakimoto J, Hirotsu Y, Kawabata M, Osame M. Mitochondrial DNA mutation correlates with stage progression and prognosis in non-small cell lung cancer. Hum Mutat. 2003;21:441-443.
25. Mambo E, Gao X, Cohen Y, Guo Z, Talalay P, Sidransky D. Electrophile and oxidant damage of mitochondrial DNA leading to rapid evolution of homoplasmic mutations. Proc Natl Acad Sci U S A. 2003;100:1838-1843.
26. Shin MG, Levin BC, Kim HJ, et al. Profiling of length heteroplasmies in the human mitochondrial DNA control regions from blood cells in the Korean population. Electrophoresis. 2006;27:1331-1340.
27. Mabuchi T, Susukida R, Kido A, Oya M. Typing the 1.1 kb control region of human mitochondrial DNA in Japanese individuals. J Forensic Sci. 2007;52:355-363.
28. Lee HC, Yin PH, Lin JC, et al. Mitochondrial genome instability and mtDNA depletion in human cancers. Ann N Y Acad Sci. 2005;1042:109-122.
29. Wu CW, Yin PH, Hung WY, et al. Mitochondrial DNA mutations and mitochondrial DNA depletion in gastric cancer. Genes Chromosomes Cancer. 2005;44:19-28.
30. Tseng LM, Yin PH, Chi CW, et al. Mitochondrial DNA mutations and mitochondrial DNA depletion in breast cancer. Genes Chromosomes Cancer. 2006;45:629-638.
31. Lin CS, Wang LS, Tsai CM, Wei YH. Low copy number and low oxidative damage of mitochondrial DNA are associated with tumor progression in lung cancer tissues after neoadjuvant chemotherapy. Interact Cardiovasc Thorac Surg. 2008;7:954-958.
32. Kim MM, Clinger JD, Masayesva BG, et al. Mitochondrial DNA quantity increases with histopathologic grade in premalignant and malignant head and neck lesions. Clin Cancer Res. 2004;10:8512-8515.
33. Lin CS, Chang SC, Wang LS, et al. The role of mitochondrial DNA alterations in esophageal squamous cell carcinomas. J Thorac Cardiovasc Surg. 2010;139:189-197.e4.
34. Jiang WW, Masayesva B, Zahurak M, et al. Increased mitochondrial DNA content in saliva associated with head and neck cancer. Clin Cancer Res. 2005;11:2486-2491.
35. Lee HC, Yin PH, Lu CY, Chi CW, Wei YH. Increase of mitochondria and mitochondrial DNA in response to oxidative stress in human cells. Biochem J. 2000;348:425-432.
36. Lin CS, Wang LS, Chou TY, et al. Cigarette smoking and hOGG1 Ser326Cys polymorphism are associated with 8-OHdG accumulation on mitochondrial DNA in thoracic esophageal squamous cell carcinoma. Ann Surg Oncol; 2012.
37. Lin CS, Lee HT, Lee SY, et al. High mitochondrial DNA copy number and bioenergetic function are associated with tumor invasion of esophageal squamous cell carcinoma cell lines. Int J Mol Sci. 2012;13:11228-11246.
38. Suzuki M, Toyooka S, Miyajima K, et al. Alterations in the mitochondrial displacement loop in lung cancers. Clin Cancer Res. 2003;9:5636-5641.
39. Lièvre A, Blons H, Houllier AM, et al. Clinicopathological significance of mitochondrial D-loop mutations in head and neck carcinoma. Br J Cancer. 2006;94:692-697.
40. Sanchez-Cespedes M, Parrella P, Nomoto S, et al. Identification of a mononucleotide repeat as a major target for mitochondrial DNA alterations in human tumors. Cancer Res. 2001;61:7015-7019.
41. Gomez-Zaera M, Abril J, Gonzalez L, et al. Identification of somatic and germline mitochondrial DNA sequence variants in prostate cancer patients. Mutat Res. 2006;595:42-51.
42. Ha PK, Tong BC, Westra WH, et al. Mitochondrial C-tract alteration in premalignant lesions of the head and neck: a marker for progression and clonal proliferation. Clin Cancer Res. 2002;8:2260-2265.
43. Tan DJ, Chang J, Chen WL, et al. Novel heteroplasmic frameshift and missense somatic mitochondrial DNA mutations in oral cancer of betel quid chewers. Genes Chromosomes Cancer. 2003;7:186-194.
44. Lin CS, Wang LS, Chang SC, et al. Associated microsatellite alterations in mitochondrial DNA and in TP53 in thoracic esophageal squamous cell carcinoma. Oncol Rep. 2012;28:69-76.
45. Nowell PC. The clonal evolution of tumor cell populations. Science. 1976;194:23-28.
46. Chiu RW, Chan LY, Lam NY, et al. Quantitative analysis of circulating mitochondrial DNA in plasma. Clin Chem. 2003;49:719-726.
47. Ellinger J, Müller DC, Müller SC, et al. Circulating mitochondrial DNA in serum: a universal diagnostic biomarker for patients with urological malignancies. Urol Oncol. 2012;30:509-515.
48. Ellinger J, Albers P, Muller SC, von Ruecker A, Bastian PJ. Circulating mitochondrial DNA in the serum of patients with testicular germ cell cancer as a novel noninvasive diagnostic biomarker. BJU Int. 2009;04:48-52.
49. Strelkova I, Abdullaev SA, Snigireva GP, Bezlepkin VG, Gaziev AI. Share of extracellular mutated mitochondrial DNA increases in plasma of lung cancer patients following radiotherapy. Biomed Khim. 2010;56:517-525.
50. Kohler C, Radpour R, Barekati Z, et al. Levels of plasma circulating cell free nuclear and mitochondrial DNA as potential biomarkers for breast tumors. Mol Cancer. 2009;8:105.
51. MITOMAP. A human mitochondrial genome database. Human mtDNA. Available at: http://www.mitomap.org/MITOMAP/ mitomapgenome.pdf [accessed].