Oxidative Stress and its Biochemical Consequences in Mitochondrial DNA Mutation-Associated Diseases: Implications of Redox Therapy for Mitochondrial Diseases

Oxidative Stress in Vertebrates and Invertebrates: Molecular Aspects of Cell Signaling

Volumn , Issue , 2011, Pages 33-49

  Wu, Shi Bei ^a   Wu, Yu Ting ^a   Ma, Yi Shing ^a   Wei, Yau Huei ^a,b  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b MACKAY MEDICAL COLLEGE   (Taiwan)

Author keywords

Biochemical consequences; Genetics based gene therapy; MtDNA mutation associated diseases

Indexed keywords

EID: 84860444218     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9781118148143.ch3     Document Type: Chapter

References (185)

1. Kirby, D.M. and Thorburn, D.R. Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders. Twin Res Hum Genet 2008; 11: 395-411.
2. Lightowlers, R.N., Chinnery, P.F., Turnbull, D.M. et al. Mammalian mitochondrial genetics: heredity, heteroplasmy and disease. Trends Genet 1997; 13: 450-5.
3. Kmiec, B., Woloszynska, M. and Janska, H. Heteroplasmy as a common state of mitochondrial genetic information in plants and animals. Curr Genet 2006; 50: 149-59.
4. Wallace, D.C. Mitochondrial defects in cardiomyopathy and neuromuscular disease. Am Heart J 2000; 139: 70-85.
5. Marín-Garciá, J., Goldenthal, M.J. and Filiano, J.J. Cardiomyopathy associated with neurologic disorders and mitochondrial phenotype. J Child Neurol 2002; 17: 759-65.
6. Chen, X., Prosser, R., Simonetti, S. et al. Rearranged mitochondrial genomes are present in human oocytes. Am J Hum Genet 1995; 57: 239-47.
7. Elliott, H.R., Samuels, D.C., Eden, J.A. et al. Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet 2008; 83: 254-60.
8. Schwartz, M. and Vissing, J. Paternal inheritance of mitochondrial DNA. N Engl J Med 2002; 347: 576-80.
9. Holt, I.J., Harding, A.E. and Morgan Hughes, J. A. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988; 331: 717-19.
10. Wallace, D.C., Singh, G., Lott, M.T. et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988; 242: 1427-30.
11. Tuppen, H.A., Blakely, E.L., Turnbull, D.M. et al. Mitochondrial DNA mutations and human disease. Biochim Biophys Acta 2010; 1792: 113-28.
12. Wei, Y.H. and Lee, H.C. Mitochondrial DNA mutations and oxidative stress in mitochondrial diseases. Adv Clin Chem 2003; 37: 83-128.
13. Zeviani, M. and Spinazzola, A. Mitochondrial disorders. Curr Neurol Neurosci Rep 2003; 3: 423-32.
14. Wallace, D.C. Mitochondrial DNA mutations in disease and aging. Environ Mol Mutagenesis 2010; 51: 440-50.
15. Arthur, C.R., Morton, S.L. and Dunham, L.D. Parkinson's disease brain mitochondria have impaired respirasome assembly, age-related increases in distribution of oxidative damage to mtDNA and no differences in heteroplasmic mtDNA mutation abundance. Mol Neurodegeneration 2009; 4: 37-49.
16. Coskun, P.E., Wyrembak, J., Derbereva, O. et al. Systemic mitochondrial dysfunction and the etiology of Alzheimer's disease and Down syndrome dementia. J Alzheimer's Dis 2010; 2: 293-310.
17. Ahari, S.E., Houshmand, M., Panahi, M.S. et al. Investigation on mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian multiple sclerosis patients. Cell Mol Neurobiol 2007; 27: 695-700.
18. Lutsenko, S. and Cooper, M.J. Localization of the Wilson's disease protein product to mitochondria. Proc Natl Acad Sci USA 1998; 95: 6004-9.
19. Wei, Y.H., Wu, S.B., Ma, Y.S. et al. Respiratory function decline and DNA mutation in mitochondria, oxidative stress and altered gene expression during aging. Chang Gung Med J 2009; 32: 113-32.
20. Schaefer, A.M., McFarland, R., Blakely, E.L. et al. Prevalence of mitochondrial DNA disease in adults. Ann Neurol 2008; 63: 35-9.
21. Wolf, N.I. and Smeitink, J.A. Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children. Neurology 2002; 59: 1402-5.
22. Saccone, C., Lanave, C. and De Grassi, A. Metazoan OXPHOS gene families: evolutionary forces at the level of mitochondrial and nuclear genomes. Biochim Biophys Acta 2006; 1757: 1171-8.
23. Richter C, Gogvadze V, Laffranchi R, et al. Oxidants in mitochondria: from physiology to diseases. Biochim Biophys Acta 1995; 1271: 67-74.
24. Chance, B., Sies, H. and Boveris, A. Hydroperoxide metabolism in mammalian organs. Physiol Rev 1979; 59: 527-605.
25. Fridovich I. Superoxide anion radical (O2 ), superoxide dismutases, and related matters. J Biol Chem 1997; 272: 18515-7.
26. Nohl, H., Breuninger, V. and Hegner, D. Influence of mitochondrial radical formation on energy-linked respiration. Eur J Biochem 1978; 90: 385-90.
27. Yakes, F.M. and 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 USA 1997; 94: 514-9.
28. Singh, G., Neckelmann, N. and Wallace, D.C. Conformational mutations in human mitochondrial DNA. Nature 1987; 329: 270-2.
29. Sato, A., Nakada, K. and Hayashi, J. Mitochondrial complementation preventing respiratory dysfunction caused by mutant mtDNA. Biofactors 2009; 35: 130-7.
30. Hiona, A. and Leeuwenburgh, C. The role of mitochondrial DNA mutations in aging and sarcopenia: implications for the mitochondrial vicious cycle theory of aging. Exp Gerontol 2008; 43: 24-33.
31. Fukui, H. and Moraes, C.T. The mitochondrial impairment, oxidative stress and neurodegeneration connection: reality or just an attractive hypothesis? Trends Neurosci 2008; 31: 251-6.
32. James, A.M., Sheard, P.W., Wei, Y.H. et al. DecreasedATP synthesis is phenotypically expressed during increased energy demand in fibroblasts containing mitochondrial tRNA mutations. Eur J Biochem 1999; 259: 462-9.
33. Liu, C.Y., Lee, C.F., Hong, C.H. et al. Mitochondrial DNA mutation and depletion increase the susceptibility of human cells to apoptosis. Ann NY Acad Sci 2004; 1011: 133-45.
34. Wu, S.B., Ma, Y.S., Wu, Y.T. et al. Mitochondrial DNA mutation-elicited oxidative stress, oxidative damage, and altered gene expression in cultured cells of patients with MERRF syndrome. Mol Neurobiol 2010; 41: 256-66.
35. Indo, H.P., Davidson, M., Yen, H.C. et al. Evidence of ROS generation by mitochondria in cells with impaired electron transport chain and mitochondrial DNA damage. Mitochondrion 2007; 7: 106-18.
36. de Grey, A.D. Reactive oxygen species production in the mitochondrial matrix: implications for the mechanism of mitochondrial mutation accumulation. Rejuvenation Res 2005; 8: 13-7.
37. Park, J.S., Sharma, L.K., Li, H. et al. A heteroplasmic, not homoplasmic, mitochondrial DNA mutation promotes tumorigenesis via alteration in reactive oxygen species generation and apoptosis. Hum Mol Genet 2009; 18: 1578-89.
38. Venkatesh, S., Deecaraman, M., Kumar, R. et al. Role of reactive oxygen species in the pathogenesis of mitochondrial DNA (mtDNA) mutations in male infertility. Ind J Med Res 2009; 129: 127-37.
39. McFarland, R., Taylor, R.W. and Turnbull, D.M. A neurological perspective on mitochondrial disease. Lancet Neurol 2010; 9: 829-40.
40. Byrne, E., Marzuki, S. and Dennett, X. Current perspectives in the study of human mitochondriopathies. Med J Australia 1988; 149: 30-3.
41. Wong, L.J. Diagnostic challenges of mitochondrial DNA disorders. Mitochondrion 2007; 7: 45-52.
42. Rahman, S., Poulton, J., Marchington, D. et al. Decrease of 3243 A to G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. Am J Hum Genet 2001; 68: 238-240.
43. Cree, L.M., Samuels, D.C and Chinnery, P.F. The inheritance of pathogenic mitochondrial DNA mutations. Biochim Biophys Acta 2009; 1792: 1097-102.
44. Marchington, D., Malik, S., Banerjee, A. et al. Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta. J Med Genet 2010; 47: 257-61.
45. Sadun, A.A., Morgia, C.L. and Carelli, V. Leber's hereditary optic neuropathy. Curr Treat Options Neurol 2011; 13: 109-17.
46. Jung, J., Mauguiere, F., Clerc-Renaud, P. et al. NARP mitochondriopathy: an unusual cause of progressive myoclonic epilepsy. Neurology 2007; 68: 1429-30.
47. Santorelli, F.M., Mak, S.C. and Vazquez-Memije, M.E. Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation. Pediatr Res 1996; 39: 914-7.
48. Debray, F.G., Lambert, M., Lortie, A. et al. Long-term outcome of Leigh syndrome caused by the NARPT8993C mtDNA mutation. Am J Med Genet A 2007; 143: 2046-51.
49. Mizukami, K., Sasaki, M., Suzuki, T. et al. Central nervous system changes in mitochondrial encephalomyopathy: light and electron microscopic study. Acta Neuropathol 1991; 83: 449-52.
50. Parsons, T., Weimer, L., Engelstad, K. et al. Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. Arch Neurol 2010; 67: 976-9.
51. Ling, J., Roy, H., Qin, D. et al. Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome. Proc Natl Acad Sci USA 2007; 104: 15299-304.
52. De Paepe, B., Smet, J., Lammens, M. et al. Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects. J Clin Pathol 2009; 62: 172-6.
53. Greaves, L.C., Yu-Wai-Man, P., Blakely, E.L. et al. Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO. Invest Ophthalmol Vis Sci 2010; 51: 3340-6.
54. Maceluch, J.A. and Niedziela, M. The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy. Pediatr Endocrinol Rev 2007; 4: 117-37.
55. Ló pez-Gallardo, E., Ló pez-Pé rez, M.J, Montoya, J. et al. CPEO and KSS differ in the percentage and location of the mtDNA deletion. Mitochondrion 2009; 9: 314-7.
56. Heddi A., Lestienne, P., Wallace, D.C. et al. Mitochondrial DNA expression in mitochondrial myopathies and coordinated expression of nuclear genes involved in ATP production. J Biol Chem 1993; 268: 12156-63.
57. DiMauro, S., Hirano, M., Kaufmann, P. et al. Clinical features and genetics of myoclonic epilepsy with ragged red fibers. Advanced Neurol 2002; 89: 217-29.
58. Taylor, R.W., Schaefer, A.M., Barron, M.J. et al. The diagnosis of mitochondrial muscle disease. Neuromuscular Disord 2004; 14: 237-45.
59. Byrne, E., Dennett, X., Trounce, I. et al. Partial cytochrome c oxidasedeficiency in chronic progressive external ophthalmoplegia. Histochemical and biochemical studies. J Neurol Sci 1985; 71: 257-71.
60. Fernández-Checa, J.C., Fernández, A., Morales, A. et al. Oxidative stress and altered mitochondrial function in neurodegenerative diseases: lessons from mouse models. CNS Neurol Disord Drug Targets 2010; 9: 439-54.
61. Byrne, E. and Trounce, I. Oxygen electrode studies with human skeletalmusclemitochondria in vitro.Are-appraisal. J Neurol Sci 1985; 69: 319-33.
62. Kramer, K.A., Oglesbee, D., Hartman, S.J. et al. Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts. Clin Chem 2005; 51: 2110-6.
63. Qian, W., and Van Houten, B. Alterations in bioenergetics due to changes in mitochondrial DNA copy number. Methods 2010; 51: 452-7.
64. Morá n, M., Rivera, H., Sá nchez-Aragó , M. et al. Mitochondrial bioenergetics and dynamics interplay in Complex I-deficient fibroblasts. Biochim Biophys Acta 2010; 1802: 443-53.
65. von Kleist-Retzow, J.C., Hornig-Do, H.T., Schauen, M. et al. Impaired mitochondrial Ca2+ homeostasis in respiratory chain-deficient cells but efficient compensation of energetic disadvantage by enhanced anaerobic glycolysis due to low ATP steady state levels. Exp Cell Res 2007; 313: 3076-89.
66. Mancuso, M., Filosto, M., Mootha, V.K. et al. A novel mitochondrial tRNAPhe mutation causes MERRF syndrome. Neurology 2004; 62: 2119-21.
67. Pallotti, F., Baracca, A., Hernandez-Rosa, E. et al. Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations. Biochem J 2004; 384: 287-93.
68. Rossmanith, W., Freilinger, M., Roka, J. et al. Isolated cytochrome c oxidase deficiency as a cause of MELAS. J Med Genet 2008; 45: 117-21.
69. Iwanaga, R., Koga, Y., Aramaki, S. et al. Inter- and/or intra-organ distribution of mitochondrial C3303T or A3243G mutation in mitochondrial cytopathy. Acta Neuropathol 2001; 101: 179-84.
70. Collombet, J.M., Faure-Vigny, H., Mandon, G. et al. Expression of oxidative phosphorylation genes in muscle cell cultures from patients with mitochondrial myopathies. Mol Cell Biochem 1997; 168: 73-85.
71. Barbiroli, B., Montagna, P., Cortelli, P. et al. Defective brain and muscle energy metabolism shown by in vivo 31P magnetic resonance spectroscopy in non-affected carriers of 11778 mtDNA mutation. Neurology 1995; 45: 1364-9.
72. Brown, M.D., Allen, J.C., Van Stavern, G.P. et al. Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations. Am J Med Genet 2001; 104: 331-8.
73. Brown, M.D., Trounce, I.A., Jun, A.S. et al. Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation. J Biol Chem 2000; 275: 39831-6.
74. Moraes, C.T., DiMauro, S., Zeviani, M. et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989; 320: 1293-9.
75. Vielhaber, S., Varlamov, D.A., Kudina, T.A. et al. Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients harboring the A3243G point mutation or large-scale deletions of mitochondrial DNA. J Neuropathol Exp Neurol 2002; 61: 885-95.
76. Gellerich, F.N., Deschauer, M., Chen, Y. et al. Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size. Biochim Biophys Acta 2002; 1556: 41-52.
77. Liu, C.Y., Lee, C.F. and Wei, Y.H. Activation of PKCdelta and ERK1/2 in the sensitivity to UV-induced apoptosis of human cells harboring 4977 bp deletion of mitochondrial DNA. Biochim Biophys Acta Mol Basis Dis 2009; 1792: 783-90.
78. Keightley, J.A., Hoffbuhr, K.C., Burton, M.D. et al. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nat Genet 1996; 12: 410-15.
79. Karadimas, C.L., Greenstein, P., Sue, C.M. et al. Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mtDNA. Neurology 2000; 55: 644-9.
80. Tatuch, Y. and Robinson, B.H. The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria. Biochem Biophys Res Commun 1993; 192: 124-8.
81. Willems, J.L., Monnens, L.A., Trijbels, J.M. et al. Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue. Pediatrics 1977; 60: 850-7.
82. Santorelli, F.M., Mak, S.C., Vazquez-Memije, M.E. et al. Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation. Pediatr Res 1996; 39: 914-7.
83. Yen, M.Y., Kao, S.H., Wang, A.G. et al. Increased 8- hydroxy-20-deoxyguanosine in leukocyte DNA in Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci 2004; 45: 1688-91.
84. Katayama, Y., Maeda, K., Iizuka, T. et al. Accumulation of oxidative stress around the stroke-like lesions of MELAS patients. Mitochondrion 2009; 9: 306-13.
85. Mitsui, T., Kawai, H., Nagasawa, M. et al. Oxidative damage to skeletal muscle DNA from patients with mitochondrial encephalomyopathies. J Neurol Sci 1996; 139: 111-6.
86. Menzies, K.J., Robinson, B.H. and Hood, D.A. Effect of thyroid hormone on mitochondrial properties and oxidative stress in cells from patients with mtDNA defects. Am J Physiol Cell Physiol 2009; 296: C355-62.
87. Majora, M., Wittkampf, T., Schuermann, B. et al. Functional consequences of mitochondrial DNA deletions in human skin fibroblasts: increased contractile strength in collagen lattices is due to oxidative stress-induced lysyl oxidase activity. Am J Pathol 2009; 175: 1019-29.
88. Lu, C.Y., Wang, E.K., Lee, H.C. et al. Increased expression of manganese-superoxide dismutase in fibroblasts of patients with CPEO syndrome. Mol Genet Metabol 2003; 80: 321-9.
89. Beal, M.F. Mitochondria, oxidative damage, and inflammation in Parkinson's disease. Ann NY Acad Sci 2003; 991: 120-31.
90. Piccolo, G., Banfi, P., Azan, G. et al. Biological markers of oxidative stress in mitochondrial myopathies with progressive external ophthalmoplegia. J Neurol Sci 1991; 105: 57-60.
91. Oexle, K. and Zwirner, A. Advanced telomere shortening in respiratory chain disorders. Hum Mol Genet 1997; 6: 905-8.
92. Pitkä nen, S., Raha, S. and Robinson, B.H. Diagnosis of complex I deficiency in patients with lactic acidemia using skin fibroblast cultures. Biochem Mol Med 1996; 59: 134-7.
93. Van Eijsden, R.G., Eijssen, L.M., Lindsey, P.J. et al. Termination of damaged protein repair defines the occurrence of symptoms in carriers of the mt 3243 A to G tRNALeu mutation. J Med Genet 2008; 45: 525-34.
94. King, M.P. and Attardi, G. Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 1989; 246: 500-3.
95. Swerdlow, R.H. Mitochondria in cybrids containing mtDNA from persons with mitochondriopathies. J Neurosci Res 2007; 85: 3416-28.
96. Pello, R., Martín, M.A., Carelli, V. et al. Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease. Hum Mol Genet 2008; 17: 4001-11.
97. D'Aurelio, M., Vives-Bauza, C., Davidson, M.M. et al. Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells. Hum Mol Genet 2010; 19: 374-86.
98. Ferrer, I. Altered mitochondria, energy metabolism, voltage-dependent anion channel, and lipid rafts converge to exhaust neurons in Alzheimer's disease. J Bioenerget Biomembr 2009; 41: 425-31.
99. Osman, C., Merkwirth, C. and Langer, T. Prohibitins and the functional compartmentalization of mitochondrial membranes. J Cell Sci 2009; 122: 3823-30.
100. Ichiki, T., Kobayashi, M., Wada, Y. et al. Clinical and molecular heterogeneity in patients with mitochondrial encephalomyopathies due to complex I deficiency. J Inherited Metab Dis 1988; 11: 333-6.
101. Hall, R.E., Henriksson, K.G., Lewis, S.F. et al. Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins. J Clin Invest 1993; 92: 2660-6.
102. Gattermann N. From sideroblastic anemia to the role of mitochondrial DNA mutations in myelodysplastic syndromes. Leukemia Res 2000; 24: 141-51.
103. Sheftel, A., Stehling, O. and Lill, R. Iron-sulfur proteins in health and disease. Trends Endocrinol Metabol 2010; 21: 302-14.
104. Tong, W.H. and Rouault, T.A. Metabolic regulation of citrate and iron by aconitases: role of iron-sulfur cluster biogenesis. Biometals 2007; 20: 549-64.
105. Leipuviene, R. and Theil, E.C. The family of iron responsive RNA structures regulated by changes in cellular iron and oxygen. Cell Mol Life Sci 2007; 64: 2945-55.
106. Horowitz, M.P. and Greenamyre, J.T. Mitochondrial iron metabolism and its role in neurodegeneration. J Alzheimer's Dis 2010; 20, Suppl 2: S551-68.
107. Ma, Y.S. Oxidative stress and its consequence in human cells harboring MERRF-specific A8344G mutation of mtDNA-emphasis on oxidative damage to enzymes containing Fe-S cluster. PhD thesis, National Yang-Ming University, Taipei, Taiwan, 2009. 181 pp.
108. Ma, Y.S., Wu, S.B., Lee W.Y. et al. Response to the increase of oxidative stress and mutation of mitochondrial DNA in aging. Biochim Biophys Acta 2009; 1790: 1021-9.
109. Duvigneau, J.C., Piskernik, C., Haindl, S. et al. A novel endotoxin-induced pathway: upregulation of heme oxygenase 1, accumulation of free iron, and free iron mediated mitochondrial dysfunction, Lab Invest 2008; 88: 70-7.
110. Gort, A.S. and Imlay, J.A. Balance between endogenous superoxide stress and antioxidant defenses. J Bacteriol 1998; 180: 1402-10.
111. Gropman, A.L. Diagnosis and treatment of childhood mitochondrial diseases. Curr Neurol Neurosci Rep 2001; 1: 185-94.
112. Fosslien, E. Mitochondrial medicine-cardiomyopathy caused by defective oxidative phosphorylation. Ann Clin Lab Sci 2003; 33: 371-95.
113. Ohkoshi, N., Mizusawa, H., Shiraiwa, N. et al. Superoxide dismutases of muscle in mitochondrial encephalomyopathies. Muscle Nerve 1995; 18: 1265-71.
114. Rusanen, H., Majamaa, K. and Hassinen, I.E. Increased activities of antioxidant enzymes and decreased ATP concentration in cultured myoblasts with the 3243A to G mutation in mitochondrial DNA. Biochim Biophys Acta 2000; 1500: 10-6.
115. Filosto, M., Tonin, P., Vattemi, G. et al. Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases. Acta Neuropathol 2002; 103: 215-20.
116. Luo, X., Pitkä nen, S., Kassovska-Bratinova, S. et al. Excessive formation of hydroxyl radicals and aldehydic lipid peroxidation products in cultured skin fibroblasts from patients with complex I deficiency. J Clin Invest 1997; 99: 2877-82.
117. Robinson, B.H. The role of manganese superoxide dismutase in health and disease. J Inherited Metab Dis 1998; 21: 598-603.
118. Floreani, M., Napoli, E., Martinuzzi, A. et al. Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy. FEBS J 2005; 272: 1124-35.
119. Qi, X., Lewin, A.S., Hauswirth, W.W. et al. Optic neuropathy induced by reductions in mitochondrial superoxide dismutase. Invest Ophthalmol Vis Sci 2003; 44: 1088-96.
120. Sandbach, J.M., Coscun, P.E., Grossniklaus, H.E. et al. Ocular pathology in mitochondrial superoxide dismutase (Sod2)-deficient mice. Invest Ophthalmol Vis Sci 2001; 42: 2173-8.
121. Vives-Bauza, C., Gonzalo, R., Manfredi, G. et al. Enhanced ROS production and antioxidant defenses in cybrids harbouring mutations in mtDNA. Neurosci Lett 2006; 391: 136-41.
122. Brambilla, L., Cairo, G., Sestili, P. et al. Mitochondrial respiratory chain deficiency leads to overexpression of antioxidant enzymes. FEBS Lett 1997; 418: 247-50.
123. Lu, C.Y., Lee, C.F., Ma, Y.S. et al. Oxidative stress and mitochondrial disease. In: Oxidative Stress, Disease and Cancer, Sigh K.K., editor. London, UK: Imperial College Press, 2006, chapter 21, pp 649-672.
124. Ma, Y.S., Chen, Y.C., Lu, C.Y. et al. Upregulation of matrix metalloproteinase 1 and disruption of mitochondrial network in skin fibroblasts of patients with MERRF syndrome. Ann NY Acad Sci 2005; 1042: 55-63.
125. Wenk, J., Brenneisen, P., Wlaschek, M. et al. Stable overexpression of manganese superoxide dismutase in mitochondria identifies hydrogen peroxide as a major oxidant in the AP-1-mediated induction of matrixdegrading metalloprotease-1. J Biol Chem 1999; 274: 25869-76.
126. Adhihetty, P.J., Taivassalo, T., Haller, R.G. et al. The effect of training on the expression of mitochondrial biogenesis- and apoptosis-related proteins in skeletal muscle of patients with mtDNA defects. Am J Physiol Endocrinol Metab 2007; 293: E672-80.
127. Wani, A.A., Rangrez, A.Y., Kumar, H. et al. Analysis of reactive oxygen species and antioxidant defenses in complex I deficient patients revealed a specific increase in superoxide dismutase activity. Free Radic Res 2008; 42: 415-27.
128. Orr, W.C., Mockett, R.J., Benes, J.J. et al. Effects of overexpression of copper-zinc and manganese superoxide dismutases, catalase, and thioredoxin reductase genes on longevity in Drosophila melanogaster. J Biol Chem 2003; 278: 26418-22.
129. Kirkinezos, I.G. and Moraes, C.T. Reactive oxygen species and mitochondrial diseases. Semin Cell Dev Biol 2001; 12: 449-57.
130. Van Remmen, H., Salvador, C., Yang, H. et al. Characterization of the antioxidant status of the heterozygous manganese superoxide dismutase knockout mouse. Arch Biochem Biophys 1999; 363: 91-7.
131. Wei, Y.H., Lu, C.Y., Wei, C.Y. et al. Oxidative stress in human aging and mitochondrial disease-consequences of defective mitochondrial respiration and impaired antioxidant enzyme system. Chin J Physiol 2001; 44: 1-11.
132. Ceballos, I., Delabar, J.M., Nicole, A. et al. Expression of transfected human Cu,Zn superoxide dismutase gene in mouse L cells and NS20Y neuroblastoma cells induces enhancement of glutathione peroxidase activity. Biochim Biophys Acta 1988; 949: 58-64.
133. Amstad, P., Moret, R. and Cerutti, P. Glutathione peroxidase compensates for the hypersensitivity of Cu, Zn-superoxide dismutase overproducers to oxidant stress. J Biol Chem 1994; 269: 1606-9.
134. Li, N., Oberley, T.D., Oberley, L.W. et al. Inhibition of cell growth in NIH/3T3 fibroblasts by overexpression of manganese superoxide dismutase: mechanistic studies. J Cell Physiol 1998; 175: 359-9.
135. Amstad, P., Peskin, A., Shah, G. et al. The balance between Cu,Zn-superoxide dismutase and catalase affects the sensitivity of mouse epidermal cells to oxidative stress. Biochemistry 1991; 30: 9305-13.
136. Canter, J.A., Eshaghian, A., Fessel, J. et al. Degree of heteroplasmy reflects oxidant damage in a large family with the mitochondrial DNA A8344G mutation. Free Radic Biol Med 2005; 38: 678-83.
137. Umaki, Y., Mitsui, T., Endo, I. et al. Apoptosis-related changes in skeletal muscles of patients with mitochondrial diseases. Acta Neuropathol 2002; 103: 163-70.
138. Kunishige, M., Mitsui, T., Akaike, M. et al. Overexpressions of myoglobin and antioxidant enzymes in ragged-red fibers of skeletal muscle from patients with mitochondrial encephalomyopathy. Muscle Nerve 2003; 28: 484-92.
139. Baracca, A., Sgarbi, G., Mattiazzi, M. et al. Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993. Biochim Biophys Acta 2007; 1767: 913-9.
140. Mattiazzi, M., Vijayvergiya, C., Gajewski, C.D. et al. The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants. Hum Mol Genet 2004; 13: 869-79.
141. Ernster, L. and Dallner, G. Biochemical, physiological and medical aspects of ubiquinone function. Biochim Biophys Acta 1995; 1271: 195-204.
142. Mancuso, M., Orsucci, D., Volpi, L. et al. Coenzyme Q10 in neuromuscular and neurodegenerative disorders. Curr Drug Targets 2010; 11: 111-21.
143. Lee, C.F., Liu, C.Y., Chen, S.M. et al. Attenuation of UV-induced apoptosis by coenzyme Q10 in human cells harboring large-scale deletion of mitochondrial DNA. Ann NY Acad Sci 2005; 1042: 429-38.
144. Kooncumchoo, P., Sharma, S., Porter, J. et al. Coenzyme Q10 provides neuroprotection in iron-induced apoptosis in dopaminergic neurons. J Mol Neurosci 2006; 28: 125-41.
145. Wu, K.L., Hsu, C. and Chan, J.Y. Impairment of the mitochondrial respiratory enzyme activity triggers sequential activation of apoptosis-inducing factor-dependent and caspase-dependent signaling pathways to induce apoptosis after spinal cord injury. J Neurochem 2007; 101: 1552-66.
146. Chen, R.S., Huang, C.C. and Chu, N.S. Coenzyme Q10 treatment in mitochondrial encephalomyopathies. Shortterm double-blind, crossover study. Eur Neurol 1997; 37: 212-8.
147. Di Giovanni, S., Mirabella, M., Spinazzola, A. et al. Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency. Neurology 2001; 57: 515-8.
148. Beal, M.F. Mitochondrial dysfunction and oxidative damage in Alzheimer's and Parkinson's diseases and coenzyme Q10 as a potential treatment. J Bioenerget Biomembr 2004; 36: 381-6.
149. Marriage, B.J., Clandinin, M.T., Macdonald, I.M. et al. Cofactor treatment improves ATP synthetic capacity in patients with oxidative phosphorylation disorders. Mol Genet Metabol 2004; 81: 263-72.
150. Komaki, H., Nishigaki, Y. and Fuku, N. Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency. Biochim Biophys Acta 2010; 1800: 313-5.
151. KC, S., Cá rcamo, J.M. and Golde, D.W. Vitamin C enters mitochondria via facilitative glucose transporter 1 (Glut1) and confers mitochondrial protection against oxidative injury. FASEB J 2005; 19: 1657-67.
152. Peterson, P.L. The treatment of mitochondrial myopathies and encephalomyopathies. Biochim Biophys Acta 1995; 1271: 275-80.
153. Goldenberg, P.C., Steiner, R.D., Merkens, L.S. et al. Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency. Neurology 2003; 60: 865-8.
154. Kerr, D.S. Treatment of mitochondrial electron transport chain disorders: a review of clinical trials over the past decade. Mol Genet Metabol 2010; 99: 246-55.
155. Murphy, M.P. and Smith, R.A. Targeting antioxidants to mitochondria by conjugation to lipophilic cations. Annu Rev Pharmacol Toxicol 2007; 47: 629-56.
156. Victor, V.M., Apostolova, N., Herance, R. et al. Oxidative stress and mitochondrial dysfunction in atherosclerosis: mitochondria-targeted antioxidants as potential therapy. 2009; Curr Med Chem 16: 4654-67.
157. Smith, R.A. and Murphy, M.P. Animal and human studies with the mitochondria-targeted antioxidant MitoQ. Ann NY Acad Sci 2010; 1201: 96-103.
158. Jauslin, M.L., Meier, T., Smith, R.A. et al. Mitochondria- targeted antioxidants protect Friedreich ataxia fibroblasts from endogenous oxidative stress more effectively than untargeted antioxidants. FASEB J 2003; 17: 1972-4.
159. Smith, R.A., Porteous, C.M., Gane, A.M. et al. Delivery of bioactive molecules to mitochondria in vivo. Proc Natl Acad Sci USA 2003; 100: 5407-12.
160. Adlam, V.J., Harrison, J.C., Porteous, C.M. et al. Targeting an antioxidant to mitochondria decreases cardiac ischemia-reperfusion injury. FASEB J 2005; 19: 1088-95.
161. Szeto, H.H. Mitochondria-targeted peptide antioxidants: novel neuroprotective agents. Am Assoc Pharmaceut Sci J 2006; 8: E521-31.
162. Cho, S., Szeto, H.H., Kim, E. et al. A novel cell-permeable antioxidant peptide, SS31, attenuates ischemic brain injury by down-regulating CD36. J Biol Chem 2007; 282: 4634-42.
163. Song, W., Shin, J., Lee, J. et al. A potent opiate agonist protects against myocardial stunning during myocardial ischemia and reperfusion in rats. Coronary Artery Dis 2005; 16: 407-10.
164. Rosenthal, R.A., Huffman, K.D., Fisette, L.W. et al. Orally available Mn porphyrins with superoxide dismutase and catalase activities. J Biol Inorg Chem 2009; 14: 979-91.
165. Wojewoda, M., Duszynski, J. and Szczepanowska, J. Antioxidant defence systems and generation of reactive oxygen species in osteosarcoma cells with defective mitochondria: effect of selenium. Biochim Biophys Acta 2010; 1797: 890-6.
166. Schriner, S.E., Linford, N.J., Martin, G.M. et al. Extension of murine life span by overexpression of catalase targeted to mitochondria. Science 2005; 308: 1909-11.
167. Dai, D.F., Chen, T., Wanagat, J. et al. Age-dependent cardiomyopathy in mitochondrial mutator mice is attenuated by overexpression of catalase targeted to mitochondria. Aging Cell 2010; 9: 536-44.
168. Banmeyer, I., Marchand, C., Clippe, A. et al. Human mitochondrial peroxiredoxin 5 protects from mitochondrial DNA damages induced by hydrogen peroxide. FEBS Lett 2005; 579: 2327-33.
169. Zhang, H., Go, Y.M. and Jones, D.P. Mitochondrial thioredoxin-2/peroxiredoxin-3 system functions in parallel with mitochondrial GSH system in protection against oxidative stress. Arch Biochem Biophys 2007; 465: 119-26.
170. Ran, Q., Liang, H., Gu, M. et al. Transgenic mice overexpressing glutathione peroxidase 4 are protected against oxidative stress-induced apoptosis. J Biol Chem 2004; 279: 55137-46.
171. Kyriakouli, D.S., Boesch, P., Taylor, R.W. et al. Progress and prospects: gene therapy for mitochondrial DNA disease. Gene Therapy 2008; 15: 1017-23.
172. Dimauro, S. and Rustin, P. A critical approach to the therapy of mitochondrial respiratory chain and oxidative phosphorylation diseases. Biochim Biophys Acta 2009; 1792: 1159-67.
173. Law, R.H., Farrell, L.B., Nero, D. et al. Studies on the import into mitochondria of yeast ATP synthase subunits 8 and 9 encoded by artificial nuclear genes. FEBS Lett 1988; 236: 501-5.
174. Bokori-Brown, M. and Holt, I.J. Expression of algal nuclear ATP synthase subunit 6 in human cells results in protein targeting to mitochondria but no assembly into ATP synthase. Rejuvenation Res 2006; 9: 455-69.
175. Perales-Clemente, E., Ferná ndez-Vizarra, E., Ací n-Pé rez, R. et al. Five entry points of the mitochondrially encoded subunits in mammalian Complex I assembly. Mol Cell Biol 2010; 30: 3038-47.
176. Bonnet, C., Kaltimbacher, V., Ellouze, S. et al. Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting Complex I or V subunits. Rejuvenation Res 2007; 10: 127-44.
177. Kolesnikova, O.A., Entelis, N.S., Jacquin-Becker, C. et al. Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells. Hum Mol Genet 2004; 13: 2519-34.
178. Bhattacharyya, S.N., Chatterjee, S., Goswami, S. et al. "Ping-pong" interactions between mitochondrial tRNA import receptors within a multiprotein complex. Mol Cell Biol 2003; 23: 5217-24.
179. Mahata, B., Mukherjee, S., Mishra, S. et al. Functional delivery of a cytosolic tRNA into mutant mitochondria of human cells. Science 2006; 314: 471-4.
180. McKenzie, M., Liolitsa, D. and Hanna, M.G. Mitochondrial disease: mutations and mechanisms. Neurochem Res 2004; 29: 589-600.
181. Liu, C.Y., Lee, C.F. and Wei, Y.H. Role of reactive oxygen species-elicited apoptosis in the pathophysiology of mitochondrial and neurodegenerative diseases associated with mitochondrial DNA mutations. J Formosan Med Assoc 2009; 108: 599-611.
182. Arany, Z. PGC-1 coactivators and skeletal muscle adaptations in health and disease. Curr Opin Genet Dev 2008; 18: 426-34.
183. Aure , K., Fayet, G., Leroy, J.P. et al. Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation. Brain 2006; 129: 1249-59.
184. Frantz, M.C. and Wipf, P. Mitochondria as a target in treatment. Environ Mol Mutagenesis 2010; 51: 462-75.
185. Izyumov, D.S., Domnina, L.V., Nepryakhina, O.K. et al. Mitochondria as source of reactive oxygen species under oxidative stress. Study with novel mitochondria-targeted antioxidants-the "Skulachev-ion" derivatives. Biochemistry 2010; 75: 123-9.