Polymorphisms in the control region of mitochondrial DNA associated with elite Japanese athlete status

Scandinavian Journal of Medicine and Science in Sports

Volumn 23, Issue 5, 2013, Pages 593-599

  Mikami, E ^a,b,c   Fuku, N ^c   Takahashi, H ^d   Ohiwa, N ^d   Pitsiladis, Y P ^e   Higuchi, M ^a   Kawahara, T ^d   Tanaka, M ^c  

^a WASEDA UNIVERSITY   (Japan)

^b JAPAN SOCIETY FOR THE PROMOTION OF SCIENCE   (Japan)

^c TOKYO METROPOLITAN INSTITUTE OF GERONTOLOGY   (Japan)

^d JAPAN INSTITUTE OF SPORTS SCIENCES   (Japan)

^e UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

Case control study; Control region; Elite athlete; mtDNA; Physical performance; Polymorphism

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; ATHLETE; ATHLETIC PERFORMANCE; CASE CONTROL STUDY; CONTROL REGION; DNA REPLICATION; DNA SEQUENCE; ELITE ATHLETE; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENETICS; HUMAN; JAPAN; MALE; METABOLISM; PHYSICAL PERFORMANCE; PHYSIOLOGY; POLYMORPHISM; SKELETAL MUSCLE; STATISTICS;

CASE-CONTROL STUDY; CONTROL REGION; ELITE ATHLETE; MTDNA; PHYSICAL PERFORMANCE; POLYMORPHISM;

ATHLETES; ATHLETIC PERFORMANCE; CASE-CONTROL STUDIES; DNA REPLICATION; DNA, MITOCHONDRIAL; FEMALE; GENE FREQUENCY; HUMANS; JAPAN; MALE; MUSCLE, SKELETAL; POLYMORPHISM, GENETIC; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION, GENETIC;

EID: 84884721428     PISSN: 09057188     EISSN: 16000838     Source Type: Journal    
DOI: 10.1111/j.1600-0838.2011.01424.x     Document Type: Article

References (36)

1. Ahmetov II, Mozhayskaya IA, Flavell DM, Astratenkova IV, Komkova AI, Lyubaeva EV, Tarakin PP, Shenkman BS, Vdovina AB, Netreba AI, Popov DV, Vinogradova OL, Montgomery HE, Rogozkin VA. PPARalpha gene variation and physical performance in Russian athletes. Eur J Appl Physiol 2006: 97: 103-108.
2. Andersen JL, Schjerling P, Saltin B. Muscle, genes and athletic performance. Sci Am 2000: 283: 48-55.
3. Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG. Sequence and organization of the human mitochondrial genome. Nature 1981: 290: 457-465.
4. 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.
5. Antes A, Tappin I, Chung S, Lim R, Lu B, Parrott AM, Hill HZ, Suzuki CK, Lee CG. Differential regulation of full-length genome and a single-stranded 7S DNA along the cell cycle in human mitochondria. Nucleic Acids Res 2010: 38: 6466-6476.
6. Arden NK, Spector TD. Genetic influences on muscle strength, lean body mass, and bone mineral density: a twin study. J Bone Miner Res 1997: 12: 2076-2081.
7. Bouchard C, Daw EW, Rice T, Perusse L, Gagnon J, Province MA, Leon AS, Rao DC, Skinner JS, Wilmore JH. Familial resemblance for VO2max in the sedentary state: the HERITAGE family study. Med Sci Sports Exerc 1998: 30: 252-258.
8. Bray MS, Hagberg JM, Perusse L, Rankinen T, Roth SM, Wolfarth B, Bouchard C. The human gene map for performance and health-related fitness phenotypes: the 2006-2007 update. Med Sci Sports Exerc 2009: 41: 35-73.
9. Castro MG, Terrados N, Reguero JR, Alvarez V, Coto E. Mitochondrial haplogroup T is negatively associated with the status of elite endurance athlete. Mitochondrion 2007: 7: 354-357.
10. Cormio A, Milella F, Marra M, Pala M, Lezza AM, Bonfigli AR, Franceschi C, Cantatore P, Gadaleta MN. Variations at the H-strand replication origins of mitochondrial DNA and mitochondrial DNA content in the blood of type 2 diabetes patients. Biochim Biophys Acta 2009: 1787: 547-552.
11. Deason M, Scott RA, Irwin L, Macaulay V, Fuku N, Tanaka M, Irving R, Charlton V, Morrison E, Austin K, Pitsiladis YP. Importance of mitochondrial haplotypes and maternal lineage in sprint performance among individuals of West African ancestry. Scand J Med Sci Sports 2011. doi: 10.1111/j.1600-0838.2010.01289.x.
12. Eynon N, Duarte JA, Oliveira J, Sagiv M, Yamin C, Meckel Y, Goldhammer E. ACTN3 R577X polymorphism and Israeli top-level athletes. Int J Sports Med 2009: 30: 695-698.
13. Fagard R, Bielen E, Amery A. Heritability of aerobic power and anaerobic energy generation during exercise. J Appl Physiol 1991: 70: 357-362.
14. Fernandez-Silva P, Enriquez JA, Montoya J. Replication and transcription of mammalian mitochondrial DNA. Exp Physiol 2003: 88: 41-56.
15. Fish J, Raule N, Attardi G. Discovery of a major d-loop replication origin reveals two modes of human mtDNA synthesis. Science 2004: 306: 2098-2101.
16. Fuku N, Park KS, Yamada Y, Nishigaki Y, Cho YM, Matsuo H, Segawa T, Watanabe S, Kato K, Yokoi K, Nozawa Y, Lee HK, Tanaka M. Mitochondrial haplogroup N9a confers resistance against type 2 diabetes in Asians. Am J Hum Genet 2007: 80: 407-415.
17. Hwang S, Kwak SH, Bhak J, Kang HS, Lee YR, Koo BK, Park KS, Lee HK, Cho YM. Gene expression pattern in transmitochondrial cytoplasmic hybrid cells harboring type 2 diabetes-associated mitochondrial DNA haplogroups. PLoS ONE 2011: 6: e22116.
18. Jones A, Montgomery HE, Woods DR. Human performance: a role for the ACE genotype? Exerc Sport Sci Rev 2002: 30: 184-190.
19. Lin J, Wu H, Tarr PT, Zhang CY, Wu Z, Boss O, Michael LF, Puigserver P, Isotani E, Olson EN, Lowell BB, Bassel-Duby R, Transcriptional SBM. Co-activator PGC-1 alpha drives the formation of slow-twitch muscle fibres. Nature 2002: 418: 797-801.
20. Marcuello A, Martinez-Redondo D, Dahmani Y, Casajus JA, Ruiz-Pesini E, Montoya J, Lopez-Perez MJ, Diez-Sanchez C. Human mitochondrial variants influence on oxygen consumption. Mitochondrion 2009: 9: 27-30.
21. Mikami E, Fuku N, Takahashi H, Ohiwa N, Scott R, Pitsiladis Y, Higuchi M, Kawahara T, Tanaka M. Mitochondrial haplogroups associated with elite Japanese athlete status. Br J Sports Med 2011: 45: 1179-1183.
22. Murakami H, Ota A, Simojo H, Okada M, Ajisaka R, Kuno S. Polymorphisms in control region of mtDNA relates to individual differences in endurance capacity or trainability. Jpn J Physiol 2002: 52: 247-256.
23. Niemi AK, Majamaa K. Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. Eur J Hum Genet 2005: 13: 965-969.
24. Niemi AK, Moilanen JS, Tanaka M, Hervonen A, Hurme M, Lehtimaki T, Arai Y, Hirose N, Majamaa K. A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects. Eur J Hum Genet 2005: 13: 166-170.
25. Qian W, Van Houten B. Alterations in bioenergetics due to changes in mitochondrial DNA copy number. Methods 2010: 51: 452-457.
26. Reed T, Fabsitz RR, Selby JV, Carmelli D. Genetic influences and grip strength norms in the NHLBI twin study males aged 59-69. Ann Hum Biol 1991: 18: 425-432.
27. Scott RA, Fuku N, Onywera VO, Boit M, Wilson RH, Tanaka M, Goodwin WH, Pitsiladis YP. Mitochondrial haplogroups associated with elite Kenyan athlete status. Med Sci Sports Exerc 2009: 41: 123-128.
28. Scott RA, Wilson RH, Goodwin WH, Moran CN, Georgiades E, Wolde B, Pitsiladis YP. Mitochondrial DNA lineages of elite Ethiopian athletes. Comp Biochem Physiol B Biochem Mol Biol 2005: 140: 497-503.
29. Suissa S, Wang Z, Poole J, Wittkopp S, Feder J, Shutt TE, Wallace DC, Shadel GS, Ancient MD. mtDNA genetic variants modulate mtDNA transcription and replication. PLoS Genet 2009: 5: e1000474.
30. Tanaka M, Cabrera VM, Gonzalez AM, Larruga JM, Takeyasu T, Fuku N, Guo LJ, Hirose R, Fujita Y, Kurata M, Shinoda K, Umetsu K, Yamada Y, Oshida Y, Sato Y, Hattori N, Mizuno Y, Arai Y, Hirose N, Ohta S, Ogawa O, Tanaka Y, Kawamori R, Shamoto-Nagai M, Maruyama W, Shimokata H, Suzuki R, Shimodaira H. Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res 2004: 14: 1832-1850.
31. Tanaka M, Fuku N, Nishigaki Y, Matsuo H, Segawa T, Watanabe S, Kato K, Yokoi K, Ito M, Nozawa Y, Yamada Y. Women with mitochondrial haplogroup N9a are protected against metabolic syndrome. Diabetes 2007: 56: 518-521.
32. Wang H, Hiatt WR, Barstow TJ, Brass EP. Relationships between muscle mitochondrial DNA content, mitochondrial enzyme activity and oxidative capacity in man: alterations with disease. Eur J Appl Physiol Occup Physiol 1999: 80: 22-27.
33. Wang YX, Zhang CL, Yu RT, Cho HK, Nelson MC, Bayuga-Ocampo CR, Ham J, Kang H, Evans RM. Regulation of muscle fiber type and running endurance by PPARdelta. PLoS Biol 2004: 2: e294.
34. Warburg O. On the origin of cancer cells. Science 1956: 123: 309-314.
35. Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K. ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet 2003: 73: 627-631.
36. Zhang J, Asin-Cayuela J, Fish J, Michikawa Y, Bonafe M, Olivieri F, Passarino G, De Benedictis G, Franceschi C, Attardi G. Strikingly higher frequency in centenarians and twins of mtDNA mutation causing remodeling of replication origin in leukocytes. Proc Natl Acad Sci U S A 2003: 100: 1116-1121.