Mitochondrial DNA content: Its genetic heritability and association with renal cell carcinoma

Journal of the National Cancer Institute

Volumn 100, Issue 15, 2008, Pages 1104-1112

  Xing, Jinliang ^a   Chen, Meng ^a   Wood, Christopher G ^a   Lin, Jie ^a   Spitz, Margaret R ^a   Ma, Jianzhong ^a   Amos, Christopher I ^a   Shields, Peter G ^b   Benowitz, Neal L ^c   Gu, Jian ^a   De Andrade, Mariza ^d   Swan, Gary E ^e   Wu, Xifeng ^a  

^a UNIVERSITY OF TEXAS   (United States)

^b GEORGETOWN UNIVERSITY   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d MAYO CLINIC   (United States)

^e SRI INTERNATIONAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; AGED; ARTICLE; CANCER RISK; CONTROLLED STUDY; DIZYGOTIC TWINS; DNA CONTENT; DOSE RESPONSE; FEMALE; GENETIC MODEL; GENETIC VARIABILITY; HERITABILITY; HUMAN; KIDNEY CARCINOMA; MAJOR CLINICAL STUDY; MALE; MONOZYGOTIC TWINS; MULTIVARIATE LOGISTIC REGRESSION ANALYSIS; PERIPHERAL LYMPHOCYTE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SIBLING;

CARCINOMA, RENAL CELL; CASE-CONTROL STUDIES; DNA, MITOCHONDRIAL; EVIDENCE-BASED MEDICINE; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KIDNEY NEOPLASMS; LOGISTIC MODELS; LYMPHOCYTES; MALE; MULTIVARIATE ANALYSIS; ODDS RATIO; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE OF TESTS; REPRODUCIBILITY OF RESULTS; RISK FACTORS;

EID: 49449096531     PISSN: 00278874     EISSN: 14602105     Source Type: Journal    
DOI: 10.1093/jnci/djn213     Document Type: Article

References (47)

1. Fernandez-Silva P, Enriquez JA, Montoya J. Replication and transcription of mammalian mitochondrial DNA. Exp Physiol. 2003;88(1):41-56.
2. Gahan ME, Miller F, Lewin SR, et al. Quantification of mitochondrial DNA in peripheral blood mononuclear cells and subcutaneous fat using real-time polymerase chain reaction. J Clin Virol. 2001;22(3):241-247.
3. Diez-Sanchez C, Ruiz-Pesini E, Lapena AC, et al. Mitochondrial DNA content of human spermatozoa. Biol Reprod. 2003;68(1):180-185.
4. Barthelemy C, Ogier de Baulny H, Diaz J, et al. Late-onset mitochondrial DNA depletion:DNA copy number, multiple deletions, and compensation. Ann Neurol. 2001;49(5):607-617.
5. Cavelier L, Jazin EE, Eriksson I, et al. Decreased cytochrome-c oxidase activity and lack of age-related accumulation of mitochondrial DNA deletions in the brains of schizophrenics. Genomics. 1995;29(1):217-224.
6. Berdanier CD, Everts HB. Mitochondrial DNA in aging and degenerative disease. Mutat Res. 2001;475(1-2):169-183.
7. Cao L, Shitara H, Horii T, et al. The mitochondrial bottleneck occurs without reduction of mtDNA content in female mouse germ cells. Nat Genet. 2007;39(3):386-390.
8. Mizumachi T, Muskhelishvili L, Naito A, et al. Increased distributional variance of mitochondrial DNA content associated with prostate cancer cells as compared with normal prostate cells. Prostate. 2008;68(4):408-417.
9. Tiao MM, Lin TK, Kuo FY, et al. Early stage of biliary atresia is associated with significant changes in 8-hydroxydeoxyguanosine and mitochondrial copy number. J Pediatr Gastroenterol Nutr. 2007;45(3):329-334.
10. Gemma C, Sookoian S, Alvarinas J, et al. Mitochondrial DNA depletion in small- and large-for-gestational-age newborns. Obesity (Silver Spring). 2006;14(12):2193-2199.
11. Capps GJ, Samuels DC, Chinnery PF. A model of the nuclear control of mitochondrial DNA replication. J Theor Biol. 2003;221(4):565-583.
12. Moraes CT. What regulates mitochondrial DNA copy number in animal cells? Trends Genet. 2001;17(4):199-205.
13. Scarpulla RC. Nuclear control of respiratory chain expression in mammalian cells. J Bioenerg Biomembr. 1997;29(2):109-119.
14. Boyd NF, Dite GS, Stone J, et al. Heritability of mammographic density, a risk factor for breast cancer. N Engl J Med. 2002;347(12):886-894.
15. Bataille V, Snieder H, MacGregor AJ, Sasieni P, Spector TD. Genetics of risk factors for melanoma:an adult twin study of nevi and freckles. J Natl Cancer Inst. 2000;92(6):457-463.
16. Wang Y, Liu VW, Xue WC, Cheung AN, Ngan HY. Association of decreased mitochondrial DNA content with ovarian cancer progression. Br J Cancer. 2006;95(8):1087-1091.
17. Wu CW, Yin PH, Hung WY, et al. Mitochondrial DNA mutations and mitochondrial DNA depletion in gastric cancer. Genes Chromosomes Cancer. 2005;44(1):19-28.
18. Lee HC, Li SH, Lin JC, Wu CC, Yeh DC, Wei YH. Somatic mutations in the D-loop and decrease in the copy number of mitochondrial DNA in human hepatocellular carcinoma. Mutat Res. 2004;547(1-2):71-78.
19. Tseng LM, Yin PH, Chi CW, et al. Mitochondrial DNA mutations and mitochondrial DNA depletion in breast cancer. Genes Chromosomes Cancer. 2006;45(7):629-638.
20. Jemal A, Siegel R, Ward E, Murray T, Xu J, Thun MJ. Cancer Statistics, 2007. CA Cancer J Clin. 2007;57(1):43-66.
21. Baldewijns MM, van Vlodrop IJ, Schouten LJ, Soetekouw PM, de Bruine AP, van Engeland M. Genetics and epigenetics of renal cell cancer. Biochim Biophys Acta. 2008;1785(2):133-155.
22. Simonnet H, Alazard N, Pfeiffer K, et al. Low mitochondrial respiratory chain content correlates with tumor aggressiveness in renal cell carcinoma. Carcinogenesis. 2002;23(5):759-768.
23. Meierhofer D, Mayr JA, Foetschl U, et al. Decrease of mitochondrial DNA content and energy metabolism in renal cell carcinoma. Carcinogenesis. 2004;25(6):1005-1010.
24. Wu X, Spitz MR, Amos CI, et al. Mutagen sensitivity has high heritability: evidence from a twin study. Cancer Res. 2006;66(12):5993-5996.
25. Swan GE, Benowitz NL, Jacob P III, et al. Pharmacogenetics of nicotine metabolism in twins:methods and procedures. Twin Res. 2004;7(5):435-448.
26. Lin J, Swan GE, Shields PG, et al. Mutagen sensitivity and genetic variants in nucleotide excision repair pathway:genotype-phenotype correlation. Cancer Epidemiol Biomarkers Prev. 2007;16(10):2065-2071.
27. Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet. 1989;44(3):388-396.
28. Kaaman M, Sparks LM, van Harmelen V, et al. Strong association between mitochondrial DNA copy number and lipogenesis in human white adipose tissue. Diabetologia. 2007;50(12):2526-2533.
29. Santos TA, El Shourbagy S, St John JC. Mitochondrial content reflects oocyte variability and fertilization outcome. Fertil Steril. 2006;85(3):584-591.
30. Liang KY, Beaty TH. Statistical designs for familial aggregation. Stat Methods Med Res. 2000;9(6):543-562.
31. Amos CI, Zhu DK, Boerwinkle E. Assessing genetic linkage and association with robust components of variance approaches. Ann Hum Genet. 1996;60(pt 2):143-160.
32. de Andrade M, Amos CI, Thiel TJ. Methods to estimate genetic components of variance for quantitative traits in family studies. Genet Epidemiol. 1999;17(1):64-76.
33. Xing J, Spitz MR, Lu C, et al. Deficient G2-M and S checkpoints are associated with increased lung cancer risk:a case-control analysis. Cancer Epidemiol Biomarkers Prev. 2007;16(7):1517-1522.
34. Curran JE, Johnson MP, Dyer TD, et al. Genetic determinants of mitochondrial content. Hum Mol Genet. 2007;16(12):1504-1514.
35. Boomsma D, Busjahn A, Peltonen L. Classical twin studies and beyond. Nat Rev Genet. 2002;3(11):872-882.
36. Heyne K, Mannebach S, Wuertz E, Knaup KX, Mahyar-Roemer M, Roemer K. Identification of a putative p53 binding sequence within the human mitochondrial genome. FEBS Lett. 2004;578(1-2):198-202.
37. Trinei M, Berniakovich I, Pelicci PG, Giorgio M. Mitochondrial DNA copy number is regulated by cellular proliferation: a role for Ras and p66(Shc). Biochim Biophys Acta. 2006;1757(5-6):624-630.
38. Yamada S, Nomoto S, Fujii T, et al. Correlation between copy number of mitochondrial DNA and clinico-pathologic parameters of hepatocellular carcinoma. Eur J Surg Oncol. 2006;32(3):303-307.
39. Selvanayagam P, Rajaraman S. Detection of mitochondrial genome depletion by a novel cDNA in renal cell carcinoma. Lab Invest. 1996;74(3):592-599.
40. Warburg O. On the origin of cancer cells. Science. 1956;123(3191):309-314.
41. Yin PH, Lee HC, Chau GY, et al. Alteration of the copy number and deletion of mitochondrial DNA in human hepatocellular carcinoma. Br J Cancer. 2004;90(12):2390-2396.
42. 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.
43. Chandel NS, Schumacker PT. Cells depleted of mitochondrial DNA (rho0) yield insight into physiological mechanisms. FEBS Lett. 1999;454(3):173-176.
44. Biswas G, Anandatheerthavarada HK, Zaidi M, Avadhani NG. Mitochondria to nucleus stress signaling: a distinctive mechanism of NFkappaB/Rel activation through calcineurin-mediated inactivation of IkappaBbeta. J Cell Biol. 2003;161(3):507-519.
45. Hunt JD, van der Hel OL, McMillan GP, Boffetta P, Brennan P. Renal cell carcinoma in relation to cigarette smoking:meta-analysis of 24 studies. Int J Cancer. 2005;114(1):101-108.
46. Dhote R, Pellicer-Coeuret M, Thiounn N, Debre B, Vidal-Trecan G. Risk factors for adult renal cell carcinoma:a systematic review and implications for prevention. BJU Int. 2000;86(1):20-27.
47. Masayesva BG, Mambo E, Taylor RJ, et al. Mitochondrial DNA content increase in response to cigarette smoking. Cancer Epidemiol Biomarkers Prev. 2006;15(1):19-24.