Decreased cellular respiratory function and mitochondrial DNA mutations in the human heart associated with ageing and disease

Asia Pacific Heart Journal

Volumn 6, Issue 3, 1997, Pages 197-204

  Wei, Y H ^a   Lee, H C ^a   Wang, E K ^a   Pang, C Y ^a  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; FREE RADICAL; MITOCHONDRIAL DNA; REACTIVE OXYGEN METABOLITE;

CARDIOMYOPATHY; CELL RESPIRATION; CONGESTIVE CARDIOMYOPATHY; DIABETES MELLITUS; ENCEPHALOMYOPATHY; GENE DELETION; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LACTIC ACIDOSIS; MITOCHONDRIAL MYOPATHY; MITOCHONDRIAL RESPIRATION; POINT MUTATION; PRIORITY JOURNAL; RESPIRATORY CHAIN; REVIEW; SENESCENCE;

EID: 0031420675     PISSN: 13280163     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1328-0163(97)90031-2     Document Type: Review

References (104)

1. Leu(UUR) Lancet 338 1991 143 147
2. D.P. Kelly A.W. Strauss Inherited cardiomyopathies N Eng J Med 330 1994 913 919
3. M. Zeviani C. Mariotti C. Antozzi G.M. Fratta P. Rustin A. Prelle OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy Muscle & Nerve Supp 13 1995 S170 S174
4. J. Guenthard F. Wyler B. Fowler R. Baumgartner Cardiomyopathy in respiratory chain disorders Arch Dis Child 72 1995 223 226
5. E.J. Sherratt A.W. Thomas J.C. Alcolado Mitochondrial DNA defects: a widening clinical spectrum of disorders Clin Sci 92 1997 225 235
6. H. Nohl D. Hegner Do mitochondria produce oxygen radicals in vivo? Eur J Biochem 82 1978 563 567
7. B. Chance H. Sics A. Boveris Hydroperoxide metabolism in mammalian organs Physiol Rev 59 1979 527 605
8. M. Sawada J.C. Carlson Changes in superoxide radical and lipid peroxide formation in the brain, heart and liver during the life time of the rat Mech Ageing Dev 41 1987 125 137
9. C. Richter J.W. Park B.N. Ames Normal oxidative damage to mitochondrial and nuclear DNA is extensive Proc Natl Acad Sci USA 85 1988 6465 6467
10. E.R. Stadtman Protein oxidation and aging Science 257 1992 1220 1224
11. 2−), superoxide dismutase, and related matters J Biol Chem 272 1997 18515 18557
12. T.C. Yen Y.S. Chen K.L. King S.H. Yeh Y.H. Wei Liver mitochondrial respiratory functions decline with age Biochem Biophys Res Commun 165 1989 994 1003
13. I.[ Trounce E. Byrne S. Marzuki Decline in skeletal muscle mitochondrial respiratory chain function: Possible factor in ageing Lancet i 1989 637 639
14. J.M. Cooper V.M. Mann 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
15. S. Papa Mitochondrial oxidative phosphorylation changes in the life span. Molecular aspects and physiopathological implications Biochim Biophys Acta 1276 1996 87 105
16. A.M.S. Lezza D. Boffoli S. Scacco P. Cantatore M.N. Gadaleta Correlation between mitochondrial DNA 4977-bp deletion and respiratory chain enzyme activities in aging human skeletal muscles Biochem Biophys Res Commun 205 1994 772 779
17. R.H. Hsieh J.H. Hou H.S. Hsu Y.H. Wei Age-dependent respiratory function decline and DNA deletions in human muscle mitochondria Biochem Mol Biol Intl 32 1994 1009 1022
18. A. Tashiro T. Masuda I. Segawa Morphometric comparison of mitochondria and myofibrils of cardiomyocytes between hypertrophic and dilated cardiomyopathies Virchows Arch A 416 1990 473 478
19. J. Müller-Höcker H. Ibel I. Paetzke Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficiencies Virchows Arch A 419 1991 355 362
20. C. Angelini P. Melachi M.L. Valente Hypertrophic cardiomyopathy with mitochondrial myopathy. A new phenotype of Complex II defect Jpn Heart J 34 1993 63 77
21. S. PitkUnen F. Merante D.R. McLeod D. Applegarth T. Tong B.H. Robinson Familial cardiomyopathy with cataracts and lactic acidosis: a defect in Complex I (NADH-dehydrogenase) of the mitochondria respiratory chain Pediatr Res 39 1996 513 521
22. G.M. Pastores F. Santorelli S. Shanske Leigh syndrome and hypertrophiccardiomyopathy in an infant with a mitochondrial point mutation (T8993G) Am J Med Genet 50 1994 265 271
23. J. Marin-Garcia R. Ananthakrishnan M. Korson M.J. Goldenthai A. Perez-Atayde Cardiac mitochondrial dysfunction in Leigh syndrome Pediatr Cardiol 17 1996 387 389
24. K.S. Channer J.L. Channer M.J. Campbell J.R. Rees Cardiomyopathy in the Kearns-Sayre syndrome Br Heart J 59 1988 486 490
25. R. Anan M. Nakagawa M. Miyata Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects Circulation 91 1995 955 961
26. M. Nishizawa K. Tanaka K. Shinozawa A mitochondrial encephalomyopathy with cardiomyopathy J Neurol Sci 78 1987 189 201
27. M.G. Sweeney M. Brockington M.J. Weston J.A. Morgan-Hughes A.E. Harding Mitochondrial DNA transfer RNAI-(uuR) A3260G: a second family with myopathy and cardiomyopathy Q J Med 86 1993 435 438
28. M. Tanaka H. Ino K. Ohno K. Hattori W. Sato T. Tanaka S. Itoyama Mitochondrial mutation in fatal infantile cardiomyopathy Lancet 336 1990 1452
29. T. Obayashi K. Hattori S. Sugiyama Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy Am Heart J 124 1992 1263 1269
30. IIe mutation in fatal cardiomyopathy Biochem Biophys Res Commun 186 1992 47 53
31. H. Kitaoka K. Kameoka Y. Suzuki A patient with diabetes mellitus, cardiomyopathy, and a mitochondrial gene mutation: confirmation of a gene mutation in cardiac muscle Diabet Res Clin Pract 28 1995 207 212
32. IIe point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy Hum Mutat 8 1996 216 222
33. J. Marin-Garcia M.J. Goldenthai R. Amamthakrishnan M.E.M. Pierpont F.J. Fricker S.E. Lipshultz A. Perez-Atayde Specific mitochondrial DNA deletions in idiopathic dilated cardiomyopathy Cardiovasc Res 31 1996 306 313
34. J. Müller-Höcker Cytochrome-c-oxidase deficient cardiomyocytes in the human heart: an age-related phenomenon. A histochemical ultracytochemical study Am J Pathol 134 1989 1167 1173
35. J. Müller-Höcker Cytochrome c-oxidase deficient fibers in the limb muscle and diaphragm of man without muscular disease: An age-related alteration J Neurol Sci 100 1990 14 21
36. J. Müller-Höcker Mitochondria and ageing Brain Pathol 2 1992 149 158
37. H. Nohl R. Krämer Molecular basis of age-dependent changes in the activity of adeninenucleotide translocase Mech Ageing Dev 14 1980 137 144
38. J. Müller-Höcker A. Johannes M. Droste B. Kadenbach D. Pongratz G. Hübner Fatal mitochondrial cardiomyopathy in KearnsSayre syndrome with deficiency of cytochrome oxidase in the cardiac and skeletal muscle: an enzyme-histochemical ultraimmunocytochemical fine structural study in longterm frozen autopsy tissue Virchows Arch (Cell Pathol) 52 1986 353 367
39. J. Müller-Höcker S. Stünkel D. Pongratz G. Hb̈ner Focal deficiency of cytochrome-c-oxidase and of mitochondrial ATPase combined with loosely coupled oxidative phosphorylation in the skeletal muscle of a patient with progressive external ophthalmoplegia: An enzyme histochemical, immunocytochemical and fine structure study J Neurol Sci 69 1985 27 36
40. H.C. Lee C.Y. Pang H.S. Hsu Y.H. Wei Differential accumulations of 4,977 by deletion in mitochondrial DNA of various tissues in human ageing Biochim Biophys Acta 1226 1994 37 43
41. T.C. Yen J.H. Su K.L. King Y.H. Wei Ageing-associated 5 kb deletion in human liver mitochondrial DNA Biochem Biophys Res Commun 178 1991 124 131
42. J.H. Yang H.C. Lee K.J. Lin Y.H. Wei A specific 4977-bp deletion of mitochondrial DNA in human ageing skin Arch Dermatol Res 286 1994 386 390
43. H.J. Fahn L.S. Wang R.H. Hsieh S.C. Chang S.H. Kao M.I.-I. Huang Y.H. Wei Age-related 4,977 by deletion in human lung mitochondrial DNA Am J Respir Crit Care Med 154 1996 1141 1145
44. Y.H. Wei C.Y. Pang B.J. You H.C. Lee Tandem duplications and large-scale deletions of mitochondrial DNA are early molecular events of human aging process Ann N Y Acad Sci 786 1996 82 101
45. S. Anderson A.T. vankier B.G. Barrell Sequence and organization of the human mitochondrial genome Nature 290 1981 457 565
46. G. Attardi A. Chomyn M.P. King B. Kruse P.L. Polosa N.N. Murdter Regulation of mitochondrial gene expression in mammalian cells Biochem Soc Transac 18 1989 509 513
47. I.J. Holt A.E. Harding J.A. Morgan-Hughes Deletions of mitochondrial DNA in patients with mitochondrial myopathies Nature 331 1988 717 719
48. H.C. Lee Y.H. Wei Mutation and oxidative damage of mitochondrial DNA and defective turnover of mitochondria in human aging J Formosan Med Assoc 96 1997 770 778
49. C. Zhang A.W. Linnane 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
50. C. Münscher T. Rieger J. Müller-Höcker 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
51. K. Katsumata M. Hayakawa M. Tanaka S. Sugiyama T. Ozawa Fragmentation of human heart mitochondrial DNA associated with premature aging Biochem Biophys Res Commun 202 1994 102 110
52. H.C. Lee C.Y. Pang H.S. Hsu Y.H. Wei Ageing-associated tandem duplications in the D-loop of mitochondrial DNA of human muscle FEBS Lett 354 1994 79 83
53. L.H. Breimer Molecular mechanisms of oxygen radical carcinogenesis and mutagenesis: the role of DNA base damage Mol Carcinogen 3 1990 188 197
54. P. Mecocci U. MacGarvey A.E. Kaufman D. Koontz J.M. Shoffner D.C. Wallace M.F. Beal Oxidative damage to mitochondrial DNA shows marked age-dependent increases in human brain Ann Neurol 34 1993 609 616
55. K. Asano M. Nakamura T. Sato H. Tauchi A. Asano Age dependency of mitochondrial DNA decrease differs in different tissues of rat J Biochem (Tokyo) 114 1993 303 306
56. H.-J. Tritschler F. Andreetta C.T. Moraes Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA Neurology 42 1992 209 217
57. J. Poulton K. Morten C. Freeman-Emmetson Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion Hum Mol Genet 3 1994 1763 1769
58. D.R. Johns D.R. Cornblath Molecular insight into the asymmetric distribution of pathogenetic human mitochondrial DNA Biochem Biophys Res Commun 174 1991 244 250
59. H. Hao E. vonilla G. Manffedi S. DiMauto C.T. Moraes Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus Am J Hum Genet 56 1995 1017 1025
60. K. Takeda Mitochondrial DNA mutations in diabetic heart Diabet Res Clin Pract 31 1996 S123 S126
61. J.I. Hayashi S. Ohta Y. Kagawa Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes J Biol Chem 269 1994 19060 19066
62. A.M. Remes I.E. Hassinen M.J. Ikaheimo R. Hewe J. Hirvonen K.J. Peuhkurinen Mitochondrial DNA deletions in dilated cardiomyopathy: a clinical study employing endomyocardial sampling J Am Coll Cardiol 23 1994 935 942
63. S. Bohlega K. Tanji F.M. Santorelli M. Hirano A. al-Jishi S. DiMauto Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy Neurology 46 1996 1329 1334
64. T. Ozawa M. Tanaka S. Sugiyama Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy Biochem Biophys Res Commun 170 1990 830 836
65. K. Hattori T. Ogawa T. Kondo Cardiomyopathy with mitochondrial DNA mutations Am Heart J 122 1991 866 869
66. G. Silvestri E. Bertini S. Servidei M. Rana E. Zachara E. Ricci P. Tonali Maternally inherited cardiomyopathy: a new phenotype associated with the A to G at nt 3243 of mitochondrial DNA (MELAS mutation) Muscle & Nerve 20 1997 221 225
67. F. Merante I. Tein L. Benson B.H. Robinson Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA glycine gene Am J Hum Genet 55 1994 437 446
68. G. Silvestri F.M. Santorelli S. Shanske C.B. Whiteley L.A. Schimmend S.A. Smith S. DiMauro A new mutation in the tRNAL,u(UUR) gene associated with maternally inherited cardiomyopathy Hum Mutat 3 1994 37 43
69. M.H. Tulinius E. Holme B. Kristiansson N.-G. Larsson A. Oldfors Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes J Pediatr 119 1991 251 259
70. F.M. Santorelli S.-C. Mak M. Vazquez-Acevedo A. Gonzalez-Astiazaran C. Ridaura-Sanz D. Gonzalez-Halphen S. DiMauro A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy Biochem Biophys Res Commun 216 1995 835 840
71. C. Casali F.M. Santorelli G. D'Amati P. Bernucci L. DeBiase S. DiMauto A novel mtDNA point mutation in maternally inherited cardiomyopathy Biochem Biophys Res Common 213 1995 588 593
72. M.S. Damian P. Seibel H. Reichmann Clinical spectrum of the MELAS mutation in a large pedigree Acta Neurol Scand 92 1995 409 415
73. Leu(UUR) mutation in encephalomyopathy and cardiomyopathy Biochem Biophys Res Common 222 1996 201 207
74. S. DiMauro E. vonilla M. Zeviani Mitochondrial myopathies Ann Neurol 17 1985 521 538
75. J. Müller-Höcker P. Seibel K. Schneidervanger C.H. Zietz B. Obermaier-Kusser K.D. Gerbitz B. Kadenbach In situ hybridization of mitochondrial DNA in the heart of a patient with Kearns-Sayre syndrome and dilatative cardiomyopathy Hum Pathol 23 1992 1431 1437
76. M.H. Polymeropoulos R. Gorman-Swift M. Swift Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4 Nature Genet 8 1994 95 97
77. M. Zeviani N. Bresolin C. Gellera Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease Am J Hum Genet 47 1990 904 914
78. X. Zheng J.M. Shoffner M.T. Lott A.S. Voljavec N.S. Krawiecki K. Winn D.C. Wallace Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV Neurology 39 1989 1203 1209
79. T. Ozawa Mitochondrial DNA mutations in myocardial diseases Eur Heart J 16 Supplement O 1995 10 14
80. T. Ozawa M. Tanaka H. Ino Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease Biochem Biophys Res Commun 176 1991 938 946
81. T. Ozawa M. Tanaka S. Sugiyama Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy Biochem Biophys Res Commun 177 1991 518 525
82. M. Corral-Debrinski G. Stepien J.M. Shoffner M.T. Lott K. Kanter D.C. Wallace Hypoxemia is associated with mitochondrial DNA damage and gene induction J Am Med Assoc 266 1991 1812 1816
83. K. Hattori M. Tanaka S. Sugiyama Age-dependent increase in deleted mitochondrial DNA in the human heart: possible contributory factor to presbycardia Am Heart J 121 1991 1735 1742
84. T. Ito K. Hattori T. Obayashi M. Tanaka S. Sugiyama T. Ozawa Mitochondrial DNA mutations in cardiomyopathy Jpn Circ J 56 1992 1045 1053
85. J.F. Turrens A. Boveris Generation of superoxide anion by the NADH dehydrogenase of bovine heart mitochondria Biochem J 191 1980 421 427
86. A. Boveris B. Chance The mitochondrial generation of hydrogen peroxide: general properties and effect of hyperbaric oxygen Biochem J 134 1973 707 716
87. Y.H. Wei C.P. Scholes T.E. King Ubisemiquinone radicals from the cytochrome b-ci complex of mitochondrial electron transport chain — demonstration of QP-S radical formation Biochem Biophys Res Commun 99 1981 1411 1419
88. B.P. Yu Cellular defenses against damage from reactive oxygen species Physiol Rev 76 1994 139 162
89. B. Halliwell Free radicals and antioxidants: a personal view Nutr Rev 52 1995 253 265
90. C. Richter Oxidative damage to mitochondrial DNA and its relationship to ageing Int J Biochem Cell Biol 27 1995 647 653
91. J.G.D.L. Asuneion A. Millan P. Pla L. Bruseghini A. Esteras F.V. Pallardo J. Sastre J. Vina Mitochondrial glutathione oxidation correlates with age-associated oxidative damage to mitochondrial DNA FASEB J 10 1996 333 338
92. R.S. Sohal H.H. Ku S. Agarwal M.J. Forster H. Lal Oxidative damage, mitochondrial oxidant generation and antioxidant defenses during aging and in response to food restriction in the mouse Mech Ageing Dev 74 1994 121 133
93. M. Hayakawa K. Torii S. Sugiyama M. Tanaka T. Ozawa Age-associated accumulationof 8-hydroxydeoxyguanosine in mitochondrial DNA of human diaphragm Biochem Biophys Res Commun 179 1991 1023 1029
94. R.S. Sohal S. Agarwai M. Candas M. Forster H. Lal Effect of age and caloric restriction on DNA oxidative damage in different tissues of C57BL6 mice Mech Ageing Dev 76 1994 215 224
95. K.B. Beckman B.N. Ames Oxidative decay of DNA J Biol Chem 272 1997 19633 19636
96. M. Hayakawa K. Hattori S. Sugiyama T. Ozawa Age-associated oxygen damage and mutations in mitochondria) DNA in human heart Biochem Biophys Res Commun 189 1992 979 985
97. Y.S. Ma Studies of the response to oxidative stress of the cybrids harboring the A8344G mitochondrial DNA mutation Master Thesis 1997 Institute of Biochemistry, National Yang-Ming University Taipei 1 66
98. C.D. Smith J.M. Carney P.E. Starke-Reed C.N. Oliver E.R. Stadtman R.A. Floyd W.R. Markesbery Excess brain protein oxidation and enzyme dysfunction in normal aging and in Alzheimer's disease Proc Natl Acad Sci USA 88 1991 10540 10543
99. L. Lavie A.Z. Reznick D. Gershon Decreased protein and puromycinyl-peptide degradation in livers of senescent mice Mutat Res 275 1992 217 225
100. G.O. Ivy R. Roopsingh S. Kanai M. Ohta Y. Sara K. Kitani Leupeptin causes an accumulation of lipofuscin-like substances and other signs of aging in kidneys of young rats: further evidence for the protease inhibitor model of aging Ann N Y Acad Sci 786 1996 12 23
101. A.M. James Y.H. Wei C.Y. Pang M.P. Murphy Altered mitochondrial function in fibroblasts containing MELAS and MERRF mitochondrial mutations Biochem J 318 1996 401 407
102. B. vandy A.J. Davison Mitochondrial mutations may increase oxidative stress: implications for carcinogenesis and aging Free Radic Biol Med 8 1990 523 539
103. C.Y. Pang Y.H. Wei Annual Report of the National Research Laboratory for Mitochondrial Diseases 1997 National Health Research Institute Republic of China 1 39
104. Y.H. Wei Oxidative stress and mitochondrial DNA mutations in human aging Proc Soc Exp Biol Med 1998 in press