Mitochondrial DNA sequence variation is associated with free-living activity energy expenditure in the elderly

Biochimica et Biophysica Acta - Bioenergetics

Volumn 1817, Issue 9, 2012, Pages 1691-1700

  Tranah, Gregory J ^a   Lam, Ernest T ^a   Katzman, Shana M ^b   Nalls, Michael A ^c   Zhao, Yiqiang ^b   Evans, Daniel S ^a   Yokoyama, Jennifer S ^d   Pawlikowska, Ludmila ^d   Kwok, Pui Yan ^a   Mooney, Sean ^b   Kritchevsky, Stephen ^e   Goodpaster, Bret H ^f   Newman, Anne B ^g   Harris, Tamara B ^c   Manini, Todd M ^h   Cummings, Steven R ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b BUCK INSTITUTE FOR RESEARCH ON AGING   (United States)

^c NATIONAL INSTITUTE ON AGING   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e WAKE FOREST SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^h UNIVERSITY OF FLORIDA   (United States)

Author keywords

DNA sequencing; Energy expenditure; Metabolic rate; Mitochondria; mtDNA; Oxidative phosphorylation

Indexed keywords

MITOCHONDRIAL DNA;

ACTIVITY ENERGY EXPENDITURE; AGED; ARTICLE; CYTB GENE; DNA SEQUENCE; ENERGY EXPENDITURE; FEMALE; FREE LIVING ACTIVITY; GENE; GENETIC VARIABILITY; HUMAN; HUMAN ACTIVITIES; MALE; PHYSICAL ACTIVITY; PRIORITY JOURNAL;

ACTIVITIES OF DAILY LIVING; AGED; COHORT STUDIES; DNA, MITOCHONDRIAL; ENERGY METABOLISM; FEMALE; HUMANS; MALE; OXIDATIVE PHOSPHORYLATION; PROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA;

EID: 84862629415     PISSN: 00052728     EISSN: 18792650     Source Type: Journal    
DOI: 10.1016/j.bbabio.2012.05.012     Document Type: Article

References (154)

1. M. Elia, P. Ritz, and R.J. Stubbs Total energy expenditure in the elderly Eur. J. Clin. Nutr. 54 Suppl. 3 2000 S92 S103
2. A.E. Black, W.A. Coward, T.J. Cole, and A.M. Prentice Human energy expenditure in affluent societies: an analysis of 574 doubly-labelled water measurements Eur. J. Clin. Nutr. 50 1996 72 92
3. A.W. Linnane Mitochondria and aging: the universality of bioenergetic disease Aging (Milano) 4 1992 267 271
4. T.M. Manini, J.E. Everhart, K.V. Patel, D.A. Schoeller, L.H. Colbert, M. Visser, F. Tylavsky, D.C. Bauer, B.H. Goodpaster, and T.B. Harris Daily activity energy expenditure and mortality among older adults JAMA 296 2006 171 179 (Pubitemid 44050370)
5. S.G. Wannamethee, A.G. Shaper, and M. Walker Changes in physical activity, mortality, and incidence of coronary heart disease in older men Lancet 351 1998 1603 1608 (Pubitemid 28252175)
6. E.W. Gregg, J.A. Cauley, K. Stone, T.J. Thompson, D.C. Bauer, S.R. Cummings, and K.E. Ensrud Relationship of changes in physical activity and mortality among older women JAMA 289 2003 2379 2386 (Pubitemid 37430170)
7. E.W. Gregg, M.A. Pereira, and C.J. Caspersen Physical activity, falls, and fractures among older adults: a review of the epidemiologic evidence J. Am. Geriatr. Soc. 48 2000 883 893 (Pubitemid 30637297)
8. L. Ferrucci, G. Izmirlian, S. Leveille, C.L. Phillips, M.C. Corti, D.B. Brock, and J.M. Guralnik Smoking, physical activity, and active life expectancy Am. J. Epidemiol. 149 1999 645 653 (Pubitemid 29162714)
9. C. Bouchard, A. Tremblay, J.P. Despres, A. Nadeau, P.J. Lupien, S. Moorjani, G. Theriault, and S.Y. Kim Overfeeding in identical twins: 5-year postoverfeeding results Metabolism 45 1996 1042 1050 (Pubitemid 26282561)
10. C. Bouchard, A. Tremblay, J.P. Despres, G. Theriault, A. Nadeau, P.J. Lupien, S. Moorjani, D. Prudhomme, and G. Fournier The response to exercise with constant energy intake in identical twins Obes. Res. 2 1994 400 410
11. P. Jacobson, T. Rankinen, A. Tremblay, L. Perusse, Y.C. Chagnon, and C. Bouchard Resting metabolic rate and respiratory quotient: results from a genome-wide scan in the Quebec Family Study Am. J. Clin. Nutr. 84 2006 1527 1533 (Pubitemid 44912840)
12. R.A. Norman, P.A. Tataranni, R. Pratley, D.B. Thompson, R.L. Hanson, M. Prochazka, L. Baier, M.G. Ehm, H. Sakul, T. Foroud, W.T. Garvey, D. Burns, W.C. Knowler, P.H. Bennett, C. Bogardus, and E. Ravussin Autosomal genomic scan for loci linked to obesity and energy metabolism in Pima Indians Am. J. Hum. Genet. 62 1998 659 668 (Pubitemid 28164624)
13. X. Wu, A. Luke, R.S. Cooper, X. Zhu, D. Kan, B.O. Tayo, and A. Adeyemo A genome scan among Nigerians linking resting energy expenditure to chromosome 16 Obes. Res. 12 2004 577 581 (Pubitemid 41132499)
14. A.M. Joosen, M. Gielen, R. Vlietinck, and K.R. Westerterp Genetic analysis of physical activity in twins Am. J. Clin. Nutr. 82 2005 1253 1259 (Pubitemid 43779724)
15. J.M. Cooper, V.M. Mann, and A.H. Schapira Analyses of mitochondrial respiratory chain function and mitochondrial DNA deletion in human skeletal muscle: effect of ageing J. Neurol. Sci. 113 1992 91 98
16. D. Boffoli, S.C. Scacco, R. Vergari, G. Solarino, G. Santacroce, and S. Papa Decline with age of the respiratory chain activity in human skeletal muscle Biochim. Biophys. Acta 1226 1994 73 82 (Pubitemid 24123058)
17. I. Trounce, E. Byrne, and S. Marzuki Decline in skeletal muscle mitochondrial respiratory chain function: possible factor in ageing Lancet 1 1989 637 639 (Pubitemid 19078786)
18. T.C. Yen, Y.S. Chen, K.L. King, S.H. Yeh, and Y.H. Wei Liver mitochondrial respiratory functions decline with age Biochem. Biophys. Res. Commun. 165 1989 944 1003
19. A.C. Bowling, E.M. Mutisya, L.C. Walker, D.L. Price, L.C. Cork, and M.F. Beal Age-dependent impairment of mitochondrial function in primate brain J. Neurochem. 60 1993 1964 1967 (Pubitemid 23127610)
20. E.E. Jazin, L. Cavelier, I. Eriksson, L. Oreland, and U. Gyllensten Human brain contains high levels of heteroplasmy in the noncoding regions of mitochondrial DNA Proc. Natl. Acad. Sci. U. S. A. 93 1996 12382 12387 (Pubitemid 26367152)
21. M. Corral-Debrinski, T. Horton, M.T. Lott, J.M. Shoffner, M.F. Beal, and D.C. Wallace Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age Nat. Genet. 2 1992 324 329
22. N. Arnheim, and G. Cortopassi Deleterious mitochondrial DNA mutations accumulate in aging human tissues Mutat. Res. 275 1992 157 167
23. M. Corral-Debrinski, J.M. Shoffner, M.T. Lott, and D.C. Wallace Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease Mutat. Res. 275 1992 169 180
24. D.C. Wallace, J.M. Shoffner, I. Trounce, M.D. Brown, S.W. Ballinger, M. Corral-Debrinski, T. Horton, A.S. Jun, and M.T. Lott Mitochondrial DNA mutations in human degenerative diseases and aging Biochim. Biophys. Acta 1271 1995 141 151
25. G.A. Cortopassi, D. Shibata, N.W. Soong, and N. Arnheim A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues Proc. Natl. Acad. Sci. U. S. A. 89 1992 7370 7374
26. K. Hattori, M. Tanaka, S. Sugiyama, T. Obayashi, T. Ito, T. Satake, Y. Hanaki, J. Asai, M. Nagano, and T. Ozawa Age-dependent increase in deleted mitochondrial DNA in the human heart: possible contributory factor to presbycardia Am. Heart J. 121 1991 1735 1742
27. M. Hayakawa, S. Sugiyama, K. Hattori, M. Takasawa, and T. Ozawa Age-associated damage in mitochondrial DNA in human hearts Mol. Cell. Biochem. 119 1993 95 103 (Pubitemid 23095579)
28. A.W. Linnane, A. Baumer, R.J. Maxwell, H. Preston, C.F. Zhang, and S. Marzuki Mitochondrial gene mutation: the ageing process and degenerative diseases Biochem. Int. 22 1990 1067 1076
29. M.C. Chang, S.C. Hung, W.Y. Chen, T.L. Chen, C.F. Lee, H.C. Lee, K.L. Wang, C.C. Chiou, and Y.H. Wei Accumulation of mitochondrial DNA with 4977-bp deletion in knee cartilage-an association with idiopathic osteoarthritis Osteoarthr. Cartil. 13 2005 1004 1011 (Pubitemid 41536133)
30. J.H. Yang, H.C. Lee, K.J. Lin, and Y.H. Wei A specific 4977-bp deletion of mitochondrial DNA in human ageing skin Arch. Dermatol. Res. 286 1994 386 390 (Pubitemid 24272317)
31. V.M. Mann, J.M. Cooper, and A.H. Schapira Quantitation of a mitochondrial DNA deletion in Parkinson's disease FEBS Lett. 299 1992 218 222
32. S. Melov, J.M. Shoffner, A. Kaufman, and D.C. Wallace Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle Nucleic Acids Res. 23 1995 4122 4126
33. P. Nagley, I.R. Mackay, A. Baumer, R.J. Maxwell, F. Vaillant, Z.X. Wang, C. Zhang, and A.W. Linnane Mitochondrial DNA mutation associated with aging and degenerative disease Ann. N. Y. Acad. Sci. 673 1992 92 102 (Pubitemid 23057563)
34. L. Piko, A.J. Hougham, and K.J. Bulpitt Studies of sequence heterogeneity of mitochondrial DNA from rat and mouse tissues: evidence for an increased frequency of deletions/additions with aging Mech. Ageing Dev. 43 1988 279 293
35. S. Simonetti, X. Chen, S. DiMauro, and E.A. Schon Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR Biochim. Biophys. Acta 1180 1992 113 122
36. N.W. Soong, D.R. Hinton, G. Cortopassi, and N. Arnheim Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain Nat. Genet. 2 1992 318 323
37. S. Sugiyama, K. Hattori, M. Hayakawa, and T. Ozawa Quantitative analysis of age-associated accumulation of mitochondrial DNA with deletion in human hearts Biochem. Biophys. Res. Commun. 180 1991 894 899
38. Y.H. Wei Mitochondrial DNA alterations as ageing-associated molecular events Mutat. Res. 275 1992 145 155
39. T.C. Yen, K.L. King, H.C. Lee, S.H. Yeh, and Y.H. Wei Age-dependent increase of mitochondrial DNA deletions together with lipid peroxides and superoxide dismutase in human liver mitochondria Free Radic. Biol. Med. 16 1994 207 214
40. T.C. Yen, C.Y. Pang, R.H. Hsieh, C.H. Su, K.L. King, and Y.H. Wei Age-dependent 6 kb deletion in human liver mitochondrial DNA Biochem. Int. 26 1992 457 468
41. T.C. Yen, J.H. Su, K.L. King, and Y.H. Wei Ageing-associated 5 kb deletion in human liver mitochondrial DNA Biochem. Biophys. Res. Commun. 178 1991 124 131
42. V.W. Liu, C. Zhang, and P. Nagley Mutations in mitochondrial DNA accumulate differentially in three different human tissues during ageing Nucleic Acids Res. 26 1998 1268 1275 (Pubitemid 28291700)
43. C. Zhang, A. Baumer, R.J. Maxwell, A.W. Linnane, and P. Nagley Multiple mitochondrial DNA deletions in an elderly human individual FEBS Lett. 297 1992 34 38
44. C. Zhang, A. Lee, V.W. Liu, S. Pepe, F. Rosenfeldt, and P. Nagley Mitochondrial DNA deletions in human cardiac tissue show a gross mosaic distribution Biochem. Biophys. Res. Commun. 254 1999 152 157 (Pubitemid 29292032)
45. C. Zhang, V.W. Liu, C.L. Addessi, D.A. Sheffield, A.W. Linnane, and P. Nagley Differential occurrence of mutations in mitochondrial DNA of human skeletal muscle during aging Hum. Mutat. 11 1998 360 371 (Pubitemid 28196636)
46. J. Zhang, T.J. Montine, M.A. Smith, S.L. Siedlak, G. Gu, D. Robertson, and G. Perry The mitochondrial common deletion in Parkinson's disease and related movement disorders Parkinsonism Relat. Disord. 8 2002 165 170 (Pubitemid 33089329)
47. V.W. Liu, C. Zhang, C.Y. Pang, H.C. Lee, C.Y. Lu, Y.H. Wei, and P. Nagley Independent occurrence of somatic mutations in mitochondrial DNA of human skin from subjects of various ages Hum. Mutat. 11 1998 191 196 (Pubitemid 28132874)
48. C. Zhang, A.W. Linnane, and P. Nagley Occurrence of a particular base substitution (3243 A to G) in mitochondrial DNA of tissues of ageing humans Biochem. Biophys. Res. Commun. 195 1993 1104 1110 (Pubitemid 23280529)
49. B. Kadenbach, C. Munscher, V. Frank, J. Muller-Hocker, and J. Napiwotzki Human aging is associated with stochastic somatic mutations of mitochondrial DNA Mutat. Res. 338 1995 161 172
50. C. Munscher, J. Muller-Hocker, and B. Kadenbach Human aging is associated with various point mutations in tRNA genes of mitochondrial DNA Biol. Chem. Hoppe Seyler 374 1993 1099 1104 (Pubitemid 2023799)
51. C. Munscher, T. Rieger, J. Muller-Hocker, and B. Kadenbach The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages FEBS Lett. 317 1993 27 30 (Pubitemid 23043932)
52. A.W. Linnane, S. Marzuki, T. Ozawa, and M. Tanaka Mitochondrial DNA mutations as an important contributor to ageing and degenerative diseases Lancet 1 1989 642 645 (Pubitemid 19078788)
53. D.C. Wallace, M.T. Lott, J.M. Shoffner, and M.D. Brown Diseases resulting from mitochondrial DNA point mutations J. Inherit. Metab. Dis. 15 1992 472 479
54. D.C. Wallace Mitochondrial DNA mutations in diseases of energy metabolism J. Bioenerg. Biomembr. 26 1994 241 250 (Pubitemid 24164527)
55. D.C. Wallace Mitochondrial DNA in aging and disease Sci. Am. 277 1997 40 47
56. D.C. Wallace A mitochondrial paradigm for degenerative diseases and ageing Novartis Found. Symp. 235 2001 247 263 (discussion 263-6)
57. A.W. Linnane, C. Zhang, A. Baumer, and P. Nagley Mitochondrial DNA mutation and the ageing process: bioenergy and pharmacological intervention Mutat. Res. 275 1992 195 208
58. D.C. Wallace Why do we still have a maternally inherited mitochondrial DNA? Insights from evolutionary medicine Annu. Rev. Biochem. 76 2007 781 821
59. D.C. Wallace, W. Fan, and V. Procaccio Mitochondrial energetics and therapeutics Annu. Rev. Pathol. 5 2010 297 348
60. D.C. Wallace Colloquium paper: bioenergetics, the origins of complexity, and the ascent of man Proc. Natl. Acad. Sci. U. S. A. 107 Suppl. 2 2010 8947 8953
61. R.E. Giles, H. Blanc, H.M. Cann, and D.C. Wallace Maternal inheritance of human mitochondrial DNA Proc. Natl. Acad. Sci. U. S. A. 77 1980 6715 6719 (Pubitemid 11163470)
62. T.M. Manini, K.V. Patel, D.C. Bauer, E. Ziv, D.A. Schoeller, D.C. Mackey, R. Li, A.B. Newman, M. Nalls, J.M. Zmuda, and T.B. Harris European ancestry and resting metabolic rate in older African Americans Eur. J. Clin. Nutr. 65 2011 663 667
63. G.J. Tranah, T.M. Manini, K.K. Lohman, M.A. Nalls, S. Kritchevsky, A.B. Newman, T.B. Harris, I. Miljkovic, A. Biffi, S.R. Cummings, and Y. Liu Mitochondrial DNA variation in human metabolic rate and energy expenditure Mitochondrion 11 2011 855 861
64. W. Bodmer, and C. Bonilla Common and rare variants in multifactorial susceptibility to common diseases Nat. Genet. 40 2008 695 701 (Pubitemid 351748875)
65. T.A. Manolio, F.S. Collins, N.J. Cox, D.B. Goldstein, L.A. Hindorff, D.J. Hunter, M.I. McCarthy, E.M. Ramos, L.R. Cardon, A. Chakravarti, J.H. Cho, A.E. Guttmacher, A. Kong, L. Kruglyak, E. Mardis, C.N. Rotimi, M. Slatkin, D. Valle, A.S. Whittemore, M. Boehnke, A.G. Clark, E.E. Eichler, G. Gibson, J.L. Haines, T.F. Mackay, S.A. McCarroll, and P.M. Visscher Finding the missing heritability of complex diseases Nature 461 2009 747 753
66. N.J. Schork, S.S. Murray, K.A. Frazer, and E.J. Topol Common vs. rare allele hypotheses for complex diseases Curr. Opin. Genet. Dev. 19 2009 212 219
67. K.A. Frazer, S.S. Murray, N.J. Schork, and E.J. Topol Human genetic variation and its contribution to complex traits Nat. Rev. Genet. 10 2009 241 251
68. N. Ahituv, N. Kavaslar, W. Schackwitz, A. Ustaszewska, J. Martin, S. Hebert, H. Doelle, B. Ersoy, G. Kryukov, S. Schmidt, N. Yosef, E. Ruppin, R. Sharan, C. Vaisse, S. Sunyaev, R. Dent, J. Cohen, R. McPherson, and L.A. Pennacchio Medical sequencing at the extremes of human body mass Am. J. Hum. Genet. 80 2007 779 791 (Pubitemid 46564414)
69. B.G. Challis, L.E. Pritchard, J.W. Creemers, J. Delplanque, J.M. Keogh, J. Luan, N.J. Wareham, G.S. Yeo, S. Bhattacharyya, P. Froguel, A. White, I.S. Farooqi, and S. O'Rahilly A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism Hum. Mol. Genet. 11 2002 1997 2004 (Pubitemid 34919274)
70. R.D. Cone Haploinsufficiency of the melanocortin-4 receptor: part of a thrifty genotype? J. Clin. Invest. 106 2000 185 187 (Pubitemid 30483121)
71. S. Romeo, L.A. Pennacchio, Y. Fu, E. Boerwinkle, A. Tybjaerg-Hansen, H.H. Hobbs, and J.C. Cohen Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL Nat. Genet. 39 2007 513 516 (Pubitemid 46514768)
72. J. Cohen, A. Pertsemlidis, I.K. Kotowski, R. Graham, C.K. Garcia, and H.H. Hobbs Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9 Nat. Genet. 37 2005 161 165
73. J.C. Cohen, A. Pertsemlidis, S. Fahmi, S. Esmail, G.L. Vega, S.M. Grundy, and H.H. Hobbs Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels Proc. Natl. Acad. Sci. U. S. A. 103 2006 1810 1815 (Pubitemid 43228775)
74. I.K. Kotowski, A. Pertsemlidis, A. Luke, R.S. Cooper, G.L. Vega, J.C. Cohen, and H.H. Hobbs A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol Am. J. Hum. Genet. 78 2006 410 422 (Pubitemid 43291224)
75. D.C. Wallace, C. Stugard, D. Murdock, T. Schurr, and M.D. Brown Ancient mtDNA sequences in the human nuclear genome: a potential source of errors in identifying pathogenic mutations Proc. Natl. Acad. Sci. U. S. A. 94 1997 14900 14905 (Pubitemid 28041472)
76. N. Neckelmann, K. Li, R.P. Wade, R. Shuster, and D.C. Wallace cDNA sequence of a human skeletal muscle ADP/ATP translocator: lack of a leader peptide, divergence from a fibroblast translocator cDNA, and coevolution with mitochondrial DNA genes Proc. Natl. Acad. Sci. U. S. A. 84 1987 7580 7584
77. D.A. Merriwether, A.G. Clark, S.W. Ballinger, T.G. Schurr, H. Soodyall, T. Jenkins, S.T. Sherry, and D.C. Wallace The structure of human mitochondrial DNA variation J. Mol. Evol. 33 1991 543 555
78. D. Altshuler, M.J. Daly, and E.S. Lander Genetic mapping in human disease Science 322 2008 881 888
79. S. Blanc, D.A. Schoeller, D. Bauer, M.E. Danielson, F. Tylavsky, E.M. Simonsick, T.B. Harris, S.B. Kritchevsky, and J.E. Everhart Energy requirements in the eighth decade of life Am. J. Clin. Nutr. 79 2004 303 310 (Pubitemid 41095985)
80. S. Blanc, A.S. Colligan, J. Trabulsi, T. Harris, J.E. Everhart, D. Bauer, and D.A. Schoeller Influence of delayed isotopic equilibration in urine on the accuracy of the (2)H(2)(18)O method in the elderly J. Appl. Physiol. 92 2002 1036 1044 (Pubitemid 34670958)
81. A.M. Prentice, G.R. Goldberg, P.R. Murgatroyd, and T.J. Cole Physical activity and obesity: problems in correcting expenditure for body size Int. J. Obes. Relat. Metab. Disord. 20 1996 688 691 (Pubitemid 26237729)
82. Series WTR Energy and Protein Requirements: Report of a Joint FAP/WHO/UNU Expert Consultation 1985 World Health Organization Geneva, Switzerland
83. S. Symons, K. Weber, and M. Bonin K Nieselt ResqMi-a Versatile Algorithm and Software for Resequencing Microarrays. German Conference on Bioinformatics GI. 136 2008 10 20
84. A. Siepel, G. Bejerano, J.S. Pedersen, A.S. Hinrichs, M. Hou, K. Rosenbloom, H. Clawson, J. Spieth, L.W. Hillier, S. Richards, G.M. Weinstock, R.K. Wilson, R.A. Gibbs, W.J. Kent, W. Miller, and D. Haussler Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes Genome Res. 15 2005 1034 1050 (Pubitemid 41126859)
85. K.S. Pollard, M.J. Hubisz, K.R. Rosenbloom, and A. Siepel Detection of nonneutral substitution rates on mammalian phylogenies Genome Res. 20 2010 110 121
86. P. Kumar, S. Henikoff, and P.C. Ng Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm Nat. Protoc. 4 2009 1073 1081
87. P.C. Ng, and S. Henikoff Predicting the effects of amino acid substitutions on protein function Annu. Rev. Genomics Hum. Genet. 7 2006 61 80 (Pubitemid 44627922)
88. B. Li, V.G. Krishnan, M.E. Mort, F. Xin, K.K. Kamati, D.N. Cooper, S.D. Mooney, and P. Radivojac Automated inference of molecular mechanisms of disease from amino acid substitutions Bioinformatics 25 2009 2744 2750
89. I.A. Adzhubei, S. Schmidt, L. Peshkin, V.E. Ramensky, A. Gerasimova, P. Bork, A.S. Kondrashov, and S.R. Sunyaev A method and server for predicting damaging missense mutations Nat. Methods 7 2010 248 249
90. L.S. Huang, D. Cobessi, E.Y. Tung, and E.A. Berry Binding of the respiratory chain inhibitor antimycin to the mitochondrial bc1 complex: a new crystal structure reveals an altered intramolecular hydrogen-bonding pattern J. Mol. Biol. 351 2005 573 597 (Pubitemid 41021942)
91. K. Muramoto, K. Hirata, K. Shinzawa-Itoh, S. Yoko-o, E. Yamashita, H. Aoyama, T. Tsukihara, and S. Yoshikawa A histidine residue acting as a controlling site for dioxygen reduction and proton pumping by cytochrome c oxidase Proc. Natl. Acad. Sci. U. S. A. 104 2007 7881 7886 (Pubitemid 47185845)
92. K. Shinzawa-Itoh, H. Aoyama, K. Muramoto, H. Terada, T. Kurauchi, Y. Tadehara, A. Yamasaki, T. Sugimura, S. Kurono, K. Tsujimoto, T. Mizushima, E. Yamashita, T. Tsukihara, and S. Yoshikawa Structures and physiological roles of 13 integral lipids of bovine heart cytochrome c oxidase EMBO J. 26 2007 1713 1725 (Pubitemid 46480942)
93. A. Biffi, C.D. Anderson, M.A. Nalls, R. Rahman, A. Sonni, L. Cortellini, N.S. Rost, M. Matarin, D.G. Hernandez, A. Plourde, P.I. de Bakker, O.A. Ross, S.M. Greenberg, K.L. Furie, J.F. Meschia, A.B. Singleton, R. Saxena, and J. Rosand Principal-component analysis for assessment of population stratification in mitochondrial medical genetics Am. J. Hum. Genet. 86 2010 904 917
94. http://genetics.bwh.harvard.edu/vt/dokuwiki/start
95. B. Li, and S.M. Leal Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data Am. J. Hum. Genet. 83 2008 311 321
96. B.E. Madsen, and S.R. Browning A groupwise association test for rare mutations using a weighted sum statistic PLoS Genet. 5 2009 e1000384
97. A.L. Price, G.V. Kryukov, P.I. de Bakker, S.M. Purcell, J. Staples, L.J. Wei, and S.R. Sunyaev Pooled association tests for rare variants in exon-resequencing studies Am. J. Hum. Genet. 86 2010 832 838
98. K.D. Coon, J. Valla, S. Szelinger, L.E. Schneider, T.L. Niedzielko, K.M. Brown, J.V. Pearson, R. Halperin, T. Dunckley, A. Papassotiropoulos, R.J. Caselli, E.M. Reiman, and D.A. Stephan Quantitation of heteroplasmy of mtDNA sequence variants identified in a population of AD patients and controls by array-based resequencing Mitochondrion 6 2006 194 210 (Pubitemid 44309458)
99. A. Maitra, Y. Cohen, S.E. Gillespie, E. Mambo, N. Fukushima, M.O. Hoque, N. Shah, M. Goggins, J. Califano, D. Sidransky, and A. Chakravarti The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection Genome Res. 14 2004 812 819 (Pubitemid 38660497)
100. A. Torkamani, E.J. Topol, and N.J. Schork Pathway analysis of seven common diseases assessed by genome-wide association Genomics 92 2008 265 272
101. C.L. Quinlan, A.A. Gerencser, J.R. Treberg, and M.D. Brand The mechanism of superoxide production by the antimycin-inhibited mitochondrial Q-cycle J. Biol. Chem. 286 2011 31361 31372
102. M.D. Brand The sites and topology of mitochondrial superoxide production Exp. Gerontol. 45 2010 466 472
103. K.L. Heher, and D.R. Johns A maculopathy associated with the 15257 mitochondrial DNA mutation Arch. Ophthalmol. 111 1993 1495 1499 (Pubitemid 23331981)
104. N. Howell, I. Kubacka, S. Halvorson, and D. Mackey Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene Genetics 133 1993 133 136 (Pubitemid 23011403)
105. K. Huoponen, T. Lamminen, V. Juvonen, P. Aula, E. Nikoskelainen, and M.L. Savontaus The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy Hum. Genet. 92 1993 379 384 (Pubitemid 23323602)
106. D.R. Johns, and M.J. Neufeld Cytochrome c oxidase mutations in Leber hereditary optic neuropathy Biochem. Biophys. Res. Commun. 196 1993 810 815 (Pubitemid 23337679)
107. D.R. Johns, and M.J. Neufeld Cytochrome b mutations in Leber hereditary optic neuropathy Biochem. Biophys. Res. Commun. 181 1991 1358 1364
108. M.L. Savontaus mtDNA mutations in Leber's hereditary optic neuropathy Biochim. Biophys. Acta 1271 1995 261 263
109. S. Fauser, J. Luberichs, D. Besch, and B. Leo-Kottler Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations Biochem. Biophys. Res. Commun. 295 2002 342 347 (Pubitemid 34785840)
110. N. Povalko, E. Zakharova, G. Rudenskaia, Y. Akita, K. Hirata, M. Toyojiro, and Y. Koga A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy Mitochondrion 5 2005 194 199 (Pubitemid 40823306)
111. M.A. Tarnopolsky, D.K. Simon, B.D. Roy, K. Chorneyko, S.A. Lowther, D.R. Johns, J.K. Sandhu, Y. Li, and M. Sikorska Attenuation of free radical production and paracrystalline inclusions by creatine supplementation in a patient with a novel cytochrome b mutation Muscle Nerve 29 2004 537 547 (Pubitemid 38451345)
112. M.D. Brown, S. Zhadanov, J.C. Allen, S. Hosseini, N.J. Newman, V.V. Atamonov, I.E. Mikhailovskaya, R.I. Sukernik, and D.C. Wallace Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families Hum. Genet. 109 2001 33 39 (Pubitemid 32743191)
113. W. Cai, Q. Fu, X. Zhou, J. Qu, Y. Tong, and M.X. Guan Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation J. Genet. Genomics 35 2008 649 655
114. Y. Campos, M.A. Martin, J.C. Rubio, M.C. Gutierrez del Olmo, A. Cabello, and J. Arenas Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene Biochem. Biophys. Res. Commun. 238 1997 323 325 (Pubitemid 27464380)
115. R.G. Efremov, and L.A. Sazanov Structure of the membrane domain of respiratory complex I Nature 476 2011 414 420
116. M.M. Roessler, M.S. King, A.J. Robinson, F.A. Armstrong, J. Harmer, and J. Hirst Direct assignment of EPR spectra to structurally defined iron-sulfur clusters in complex I by double electron-electron resonance Proc. Natl. Acad. Sci. U. S. A. 107 2010 1930 1935
117. L.G. Nijtmans, N.S. Henderson, G. Attardi, and I.J. Holt Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene J. Biol. Chem. 276 2001 6755 6762
118. A.I. Jonckheere, M. Hogeveen, L. Nijtmans, M. van den Brand, A. Janssen, H. Diepstra, F. van den Brandt, B. van den Heuvel, F. Hol, T. Hofste, L. Kapusta, U. Dillmann, M. Shamdeen, J. Smeitink, J. Smeitink, and R. Rodenburg A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy BMJ Case Rep. 2009 2009
119. S. Suissa, Z. Wang, J. Poole, S. Wittkopp, J. Feder, T.E. Shutt, D.C. Wallace, G.S. Shadel, and D. Mishmar Ancient mtDNA genetic variants modulate mtDNA transcription and replication PLoS Genet. 5 2009 e1000474
120. MITOMAP: A Human Mitochondrial Genome Database http://www.mitomap.org
121. A.K. Niemi, A. Hervonen, M. Hurme, P.J. Karhunen, M. Jylha, and K. Majamaa Mitochondrial DNA polymorphisms associated with longevity in a Finnish population Hum. Genet. 112 2003 29 33 (Pubitemid 36869112)
122. O.A. Ross, R. McCormack, M.D. Curran, R.A. Duguid, Y.A. Barnett, I.M. Rea, and D. Middleton Mitochondrial DNA polymorphism: its role in longevity of the Irish population Exp. Gerontol. 36 2001 1161 1178 (Pubitemid 32536644)
123. G. De Benedictis, G. Rose, G. Carrieri, M. De Luca, E. Falcone, G. Passarino, M. Bonafe, D. Monti, G. Baggio, S. Bertolini, D. Mari, R. Mattace, and C. Franceschi Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans FASEB J. 13 1999 1532 1536 (Pubitemid 29411786)
124. F. Terasaki, M. Tanaka, K. Kawamura, Y. Kanzaki, M. Okabe, T. Hayashi, H. Shimomura, T. Ito, M. Suwa, J.S. Gong, J. Zhang, and Y. Kitaura A case of cardiomyopathy showing progression from the hypertrophic to the dilated form: association of Mt8348A->G mutation in the mitochondrial tRNA(Lys) gene with severe ultrastructural alterations of mitochondria in cardiomyocytes Jpn. Circ. J. 65 2001 691 694
125. J. Hirst Towards the molecular mechanism of respiratory complex I Biochem. J. 425 2009 327 339
126. J.W. Langston, and P.A. Ballard Jr. Parkinson's disease in a chemist working with 1-methyl-4-phenyl-1,2,5,6-tetrahydropyridine N. Engl. J. Med. 309 1983 310 (Pubitemid 13074924)
127. R.R. Ramsay, and T.P. Singer Energy-dependent uptake of N-methyl-4-phenylpyridinium, the neurotoxic metabolite of 1-methyl-4-phenyl-1,2, 3,6-tetrahydropyridine, by mitochondria J. Biol. Chem. 261 1986 7585 7587 (Pubitemid 17208669)
128. N. Li, K. Ragheb, G. Lawler, J. Sturgis, B. Rajwa, J.A. Melendez, and J.P. Robinson Mitochondrial complex I inhibitor rotenone induces apoptosis through enhancing mitochondrial reactive oxygen species production J. Biol. Chem. 278 2003 8516 8525 (Pubitemid 36800604)
129. F.A. Zimmermann, J.A. Mayr, R. Feichtinger, D. Neureiter, R. Lechner, C. Koegler, M. Ratschek, H. Rusmir, K. Sargsyan, W. Sperl, and B. Kofler Respiratory chain complex I is a mitochondrial tumor suppressor of oncocytic tumors Front. Biosci. 3 2011 315 325 (Elite Ed.)
130. R.H. Haas, F. Nasirian, K. Nakano, D. Ward, M. Pay, R. Hill, and C.W. Shults Low platelet mitochondrial complex I and complex II/III activity in early untreated Parkinson's disease Ann. Neurol. 37 1995 714 722
131. R. Stefanatos, and A. Sanz Mitochondrial complex I: a central regulator of the aging process Cell Cycle 10 2011 1528 1532
132. E.A. Shoubridge Cytochrome c oxidase deficiency Am. J. Med. Genet. 106 2001 46 52
133. S. Kathiresan, B.F. Voight, S. Purcell, K. Musunuru, D. Ardissino, P.M. Mannucci, S. Anand, J.C. Engert, N.J. Samani, H. Schunkert, J. Erdmann, M.P. Reilly, D.J. Rader, T. Morgan, J.A. Spertus, M. Stoll, D. Girelli, P.P. McKeown, C.C. Patterson, D.S. Siscovick, C.J. O'Donnell, R. Elosua, L. Peltonen, V. Salomaa, S.M. Schwartz, O. Melander, D. Altshuler, D. Ardissino, P.A. Merlini, C. Berzuini, L. Bernardinelli, F. Peyvandi, M. Tubaro, P. Celli, M. Ferrario, R. Fetiveau, N. Marziliano, G. Casari, M. Galli, F. Ribichini, M. Rossi, F. Bernardi, P. Zonzin, A. Piazza, P.M. Mannucci, S.M. Schwartz, D.S. Siscovick, J. Yee, Y. Friedlander, R. Elosua, J. Marrugat, G. Lucas, I. Subirana, J. Sala, R. Ramos, S. Kathiresan, J.B. Meigs, G. Williams, D.M. Nathan, C.A. MacRae, C.J. O'Donnell, V. Salomaa, A.S. Havulinna, L. Peltonen, O. Melander, G. Berglund, B.F. Voight, S. Kathiresan, J.N. Hirschhorn, R. Asselta, S. Duga, M. Spreafico, K. Musunuru, M.J. Daly, S. Purcell, B.F. Voight, S. Purcell, J. Nemesh, J.M. Korn, S.A. McCarroll, S.M. Schwartz, J. Yee, S. Kathiresan, G. Lucas, I. Subirana, R. Elosua, A. Surti, C. Guiducci, L. Gianniny, D. Mirel, M. Parkin, N. Burtt, S.B. Gabriel, N.J. Samani, J.R. Thompson, P.S. Braund, B.J. Wright, A.J. Balmforth, S.G. Ball, and A.S. Hall Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants Nat. Genet. 41 2009 334 341
134. S. Kathiresan, C.J. Willer, G.M. Peloso, S. Demissie, K. Musunuru, E.E. Schadt, L. Kaplan, D. Bennett, Y. Li, T. Tanaka, B.F. Voight, L.L. Bonnycastle, A.U. Jackson, G. Crawford, A. Surti, C. Guiducci, N.P. Burtt, S. Parish, R. Clarke, D. Zelenika, K.A. Kubalanza, M.A. Morken, L.J. Scott, H.M. Stringham, P. Galan, A.J. Swift, J. Kuusisto, R.N. Bergman, J. Sundvall, M. Laakso, L. Ferrucci, P. Scheet, S. Sanna, M. Uda, Q. Yang, K.L. Lunetta, J. Dupuis, P.I. de Bakker, C.J. O'Donnell, J.C. Chambers, J.S. Kooner, S. Hercberg, P. Meneton, E.G. Lakatta, A. Scuteri, D. Schlessinger, J. Tuomilehto, F.S. Collins, L. Groop, D. Altshuler, R. Collins, G.M. Lathrop, O. Melander, V. Salomaa, L. Peltonen, M. Orho-Melander, J.M. Ordovas, M. Boehnke, G.R. Abecasis, K.L. Mohlke, and L.A. Cupples Common variants at 30 loci contribute to polygenic dyslipidemia Nat. Genet. 41 2009 56 65
135. C. Newton-Cheh, T. Johnson, V. Gateva, M.D. Tobin, M. Bochud, L. Coin, S.S. Najjar, J.H. Zhao, S.C. Heath, S. Eyheramendy, K. Papadakis, B.F. Voight, L.J. Scott, F. Zhang, M. Farrall, T. Tanaka, C. Wallace, J.C. Chambers, K.T. Khaw, P. Nilsson, P. van der Harst, S. Polidoro, D.E. Grobbee, N.C. Onland-Moret, M.L. Bots, L.V. Wain, K.S. Elliott, A. Teumer, J. Luan, G. Lucas, J. Kuusisto, P.R. Burton, D. Hadley, W.L. McArdle, M. Brown, A. Dominiczak, S.J. Newhouse, N.J. Samani, J. Webster, E. Zeggini, J.S. Beckmann, S. Bergmann, N.
136. S.M. Purcell, N.R. Wray, J.L. Stone, P.M. Visscher, M.C. O'Donovan, P.F. Sullivan, and P. Sklar Common polygenic variation contributes to risk of schizophrenia and bipolar disorder Nature 460 2009 748 752
137. E. Ruiz-Pesini, D. Mishmar, M. Brandon, V. Procaccio, and D.C. Wallace Effects of purifying and adaptive selection on regional variation in human mtDNA Science 303 2004 223 226 (Pubitemid 38057570)
138. T.M. Manini Energy expenditure and aging Ageing Res. Rev. 9 2010 1 11
139. T.M. Manini, K.V. Patel, D.C. Bauer, E. Ziv, D.A. Schoeller, D.C. Mackey, R. Li, A.B. Newman, M. Nalls, J.M. Zmuda, and T.B. Harris European ancestry and resting metabolic rate in older African Americans Eur. J. Clin. Nutr. 65 2011 663 667
140. G.J. Tranah Mitochondrial-nuclear epistasis: implications for human aging and longevity Ageing Res. Rev. 10 2011 238 252
141. A.K. Niemi, J.S. Moilanen, M. Tanaka, A. Hervonen, M. Hurme, T. Lehtimaki, Y. Arai, N. Hirose, and K. Majamaa A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects Eur. J. Hum. Genet. 13 2005 166 170 (Pubitemid 40220560)
142. A. Donati, G. Cavallini, C. Paradiso, S. Vittorini, M. Pollera, Z. Gori, and E. Bergamini Age-related changes in the regulation of autophagic proteolysis in rat isolated hepatocytes J. Gerontol. A Biol. Sci. Med. Sci. 56 2001 B288 B293
143. A.D. de Grey A proposed refinement of the mitochondrial free radical theory of aging Bioessays 19 1997 161 166 (Pubitemid 27114965)
144. J.A. Baur, K.J. Pearson, N.L. Price, H.A. Jamieson, C. Lerin, A. Kalra, V.V. Prabhu, J.S. Allard, G. Lopez-Lluch, K. Lewis, P.J. Pistell, S. Poosala, K.G. Becker, O. Boss, D. Gwinn, M. Wang, S. Ramaswamy, K.W. Fishbein, R.G. Spencer, E.G. Lakatta, D. Le Couteur, R.J. Shaw, P. Navas, P. Puigserver, D.K. Ingram, R. de Cabo, and D.A. Sinclair Resveratrol improves health and survival of mice on a high-calorie diet Nature 444 2006 337 342 (Pubitemid 44764104)
145. J.M. Davis, E.A. Murphy, M.D. Carmichael, and B. Davis Quercetin increases brain and muscle mitochondrial biogenesis and exercise tolerance Am. J. Physiol. Regul. Integr. Comp. Physiol. 296 2009 R1071 R1077
146. Z. Liu, L. Sun, L. Zhu, X. Jia, X. Li, H. Jia, Y. Wang, P. Weber, J. Long, and J. Liu Hydroxytyrosol protects retinal pigment epithelial cells from acrolein-induced oxidative stress and mitochondrial dysfunction J. Neurochem. 103 2007 2690 2700
147. K.A. Rasbach, and R.G. Schnellmann Isoflavones promote mitochondrial biogenesis J. Pharmacol. Exp. Ther. 325 2008 536 543 (Pubitemid 351574800)
148. T. Stites, D. Storms, K. Bauerly, J. Mah, C. Harris, A. Fascetti, Q. Rogers, E. Tchaparian, M. Satre, and R.B. Rucker Pyrroloquinoline quinone modulates mitochondrial quantity and function in mice J. Nutr. 136 2006 390 396 (Pubitemid 43228291)
149. W. Chowanadisai, K.A. Bauerly, E. Tchaparian, A. Wong, G.A. Cortopassi, and R.B. Rucker Pyrroloquinoline quinone stimulates mitochondrial biogenesis through cAMP response element-binding protein phosphorylation and increased PGC-1alpha expression J. Biol. Chem. 285 2010 142 152
150. S. Timmers, E. Konings, L. Bilet, R.H. Houtkooper, T. van de Weijer, G.H. Goossens, J. Hoeks, S. van der Krieken, D. Ryu, S. Kersten, E. Moonen-Kornips, M.K. Hesselink, I. Kunz, V.B. Schrauwen-Hinderling, E.E. Blaak, J. Auwerx, and P. Schrauwen Calorie restriction-like effects of 30 days of resveratrol supplementation on energy metabolism and metabolic profile in obese humans Cell Metab. 14 2011 612 622
151. L. Guarente Mitochondria - a nexus for aging, calorie restriction, and sirtuins? Cell 132 2008 171 176 (Pubitemid 351172441)
152. A.E. Civitarese, S. Carling, L.K. Heilbronn, M.H. Hulver, B. Ukropcova, W.A. Deutsch, S.R. Smith, and E. Ravussin Calorie restriction increases muscle mitochondrial biogenesis in healthy humans PLoS Med. 4 2007 e76
153. E.V. Menshikova, V.B. Ritov, L. Fairfull, R.E. Ferrell, D.E. Kelley, and B.H. Goodpaster Effects of exercise on mitochondrial content and function in aging human skeletal muscle J. Gerontol. A Biol. Sci. Med. Sci. 61 2006 534 540
154. A.P. Johnston, M. De Lisio, and G. Parise Resistance training, sarcopenia, and the mitochondrial theory of aging Appl. Physiol. Nutr. Metab. 33 2008 191 199