Do mtDNA mutations participate in the pathogenesis of sporadic Parkinson's disease?

Current Genomics

Volumn 10, Issue 8, 2009, Pages 585-593

  Kirches, E ^a  

^a OTTO VON GUERICKE UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MANGANESE SUPEROXIDE DISMUTASE; MITOCHONDRIAL DNA; PROSTAGLANDIN SYNTHASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE;

AGE DISTRIBUTION; AGING; ARTICLE; DEGENERATIVE DISEASE; DNA DAMAGE; DOPAMINE METABOLISM; DOPAMINERGIC NERVE CELL; ELECTROLYTE TRANSPORT; GENE DELETION; GENE MUTATION; HUMAN; IMMUNOLOGICAL TOLERANCE; LEWY BODY; LIFESPAN; NEUROPATHOLOGY; NONHUMAN; OXIDATIVE STRESS; PARKINSON DISEASE; POINT MUTATION; PROTEIN FOLDING; RACE DIFFERENCE; RISK FACTOR; SUBSTANTIA NIGRA;

EID: 73349108757     PISSN: 13892029     EISSN: None     Source Type: Journal    
DOI: 10.2174/138920209789503879     Document Type: Article

References (82)

1. Thomas, B.; Beal, M.F. Parkinson's disease. Hum. Mol. Genet., 2007, 16, R183-194.
2. Hornykiewicz, O.; Kish, S.J. Biochemical pathophysiology of Parkinson's disease. Adv. Neurol., 1987, 45, 19-34.
3. Dauer, W.; Przedborski, S. Parkinson's disease: mechanisms and models. Neuron, 2003, 39, 889-909.
4. Zhou, C.; Huang, Y.; Przedborski, S. Oxidative stress in Parkinson's disease: a mechanism of pathogenic and therapeutic significance. Ann. N. Y. Acad. Sci., 2008, 1147, 93-104.
5. Langston, J.W.; Ballard, P.; Tetrud, J.W.; Irwin, I. Chronic Parkinsonism in humans due to a product of meperidine-analog synthesis. Science, 1983, 219, 979-980.
6. Nicklas, W.J.; Youngster, S.K.; Kindt, M.V.; Heikkila, R.E. MPTP, MPP+ and mitochondrial function. Life Sci., 1987, 40, 721-729.
7. Przedborski, S.; Tieu, K.; Perier, C.; Vila, M. MPTP as a mitochondrial neurotoxic model of Parkinson's disease. J. Bioenerg. Biomembr., 2004, 36, 375-379.
8. Przedborski, S.; Vila, M. The 1-methyl-4-phenyl-1,2,3,6- tetrahydropyridine mouse model: a tool to explore the pathogenesis of Parkinson's disease. Ann. N. Y. Acad. Sci., 2003, 991, 189-198.
9. Panov, A.; Dikalov, S.; Shalbuyeva, N.; Taylor, G.; Sherer, T.; Greenamyre, J. T. Rotenone model of Parkinson disease: multiple brain mitochondria dysfunctions after short term systemic rotenone intoxication. J. Biol. Chem., 2005, 280, 42026-42035.
10. Borland, M.K.; Trimmer, P.A.; Rubinstein, J.D.; Keeney, P.M.; Mohanakumar, K.; Liu, L.; Bennett, J.P., Jr. Chronic, low-dose rotenone reproduces Lewy neurites found in early stages of Parkinson's disease, reduces mitochondrial movement and slowly kills differentiated SH-SY5Y neural cells. Mol. Neurodegener., 2008, 3, 21.
11. Schapira, A.H.; Cooper, J.M.; Dexter, D.; Jenner, P.; Clark, J.B.; Marsden, C.D. Mitochondrial complex I deficiency in Parkinson's disease. Lancet, 1989, 1, 1269.
12. Mizuno, Y.; Ohta, S.; Tanaka, M.; Takamiya, S.; Suzuki, K.; Sato, T.; Oya, H.; Ozawa, T.; Kagawa, Y. Deficiencies in complex I subunits of the respiratory chain in Parkinson's disease. Biochem. Biophys. Res. Commun., 1989, 163, 1450-1455.
13. Bindoff, L.A.; Birch-Machin, M.; Cartlidge, N.E.; Parker, W.D., Jr.; Turnbull, D.M. Mitochondrial function in Parkinson's disease. Lancet, 1989, 2, 49.
14. Bindoff, L.A.; Birch-Machin, M.A.; Cartlidge, N.E.; Parker, W.D., Jr.; Turnbull, D.M. Respiratory chain abnormalities in skeletal muscle from patients with Parkinson's disease. J. Neurol. Sci., 1991, 104, 203-208.
15. Parker, W.D., Jr.; Boyson, S.J.; Parks, J.K. Abnormalities of the electron transport chain in idiopathic Parkinson's disease. Ann. Neurol., 1989, 26, 719-723.
16. Haas, R.H.; Nasirian, F.; Nakano, K.; Ward, D.; Pay, M.; Hill, R.; Shults, C.W. Low platelet mitochondrial complex I and complex II/III activity in early untreated Parkinson's disease. Ann. Neurol., 1995, 37, 714-722.
17. Singer, T.P.; Ramsay, R.R.; Ackrell, B.A. Deficiencies of NADH and succinate dehydrogenases in degenerative diseases and myopathies. Biochim. Biophys. Acta, 1995, 1271, 211-219.
18. Kuznetsov, A.V.; Winkler, K.; Kirches, E.; Lins, H.; Feistner, H.; Kunz, W. S. Application of inhibitor titrations for the detection of oxidative phosphorylation defects in saponin-skinned muscle fibers of patients with mitochondrial diseases. Biochim. Biophys. Acta, 1997, 1360, 142-150.
19. Wiedemann, F.R.; Winkler, K.; Lins, H.; Wallesch, C.W.; Kunz, W.S. Detection of respiratory chain defects in cultivated skin fibroblasts and skeletal muscle of patients with Parkinson's disease. Ann. N. Y. Acad. Sci., 1999, 893, 426-429.
20. Winkler-Stuck, K.; Wiedemann, F.R.; Wallesch, C.W.; Kunz, W.S., Effect of coenzyme Q10 on the mitochondrial function of skin fibroblasts from Parkinson patients. J. Neurol. Sci., 2004, 220, 41-48.
21. Swerdlow, R.H.; Parks, J.K.; Miller, S.W.; Tuttle, J.B.; Trimmer, P.A.; Sheehan, J.P.; Bennett, J.P., Jr.; Davis, R.E.; Parker, W.D., Jr. Origin and functional consequences of the complex I defect in Parkinson's disease. Ann. Neurol., 1996, 40, 663-671.
22. Gu, M.; Cooper, J.M.; Taanman, J.W.; Schapira, A.H. Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease. Ann. Neurol., 1998, 44, 177-186.
23. Esteves, A.R.; Domingues, A.F.; Ferreira, I.L.; Januario, C.; Swerdlow, R.H.; Oliveira, C.R.; Cardoso, S.M. Mitochondrial function in Parkinson's disease cybrids containing an nt2 neuronlike nuclear background. Mitochondrion, 2008, 8, 219-228.
24. Trimmer, P.A.; Bennett, J.P., Jr. The cybrid model of sporadic Parkinson's disease. Exp. Neurol., 2009, 218, 320-325.
25. Gille, G.; Hung, S.T.; Reichmann, H.; Rausch, W.D. Oxidative stress to dopaminergic neurons as models of Parkinson's disease. Ann. N. Y. Acad. Sci., 2004, 1018, 533-540.
26. Shults, C.W.; Beal, M.F.; Fontaine, D.; Nakano, K.; Haas, R.H. Absorption, tolerability, and effects on mitochondrial activity of oral coenzyme Q10 in parkinsonian patients. Neurology, 1998, 50, 793-795.
27. Shults, C.W.; Oakes, D.; Kieburtz, K.; Beal, M.F.; Haas, R.; Plumb, S.; Juncos, J.L.; Nutt, J.; Shoulson, I.; Carter, J.; Kompoliti, K.; Perlmutter, J.S.; Reich, S.; Stern, M.; Watts, R.L.; Kurlan, R.; Molho, E.; Harrison, M.; Lew, M. Effects of coenzyme Q10 in early Parkinson disease: evidence of slowing of the functional decline. Arch. Neurol., 2002, 59, 1541-1550.
28. Shults, C.W.; Haas, R. Clinical trials of coenzyme Q10 in neurological disorders. Biofactors, 2005, 25, 117-126.
29. Muller, T.; Buttner, T.; Gholipour, A. F.; Kuhn, W. Coenzyme Q10 supplementation provides mild symptomatic benefit in patients with Parkinson's disease. Neurosci. Lett., 2003, 341, 201-204.
30. Storch, A.; Jost, W.H.; Vieregge, P.; Spiegel, J.; Greulich, W.; Durner, J.; Muller, T.; Kupsch, A.; Henningsen, H.; Oertel, W.H.; Fuchs, G.; Kuhn, W.; Niklowitz, P.; Koch, R.; Herting, B.; Reichmann, H. Randomized, double-blind, placebo-controlled trial on symptomatic effects of coenzyme Q(10) in Parkinson disease. Arch. Neurol., 2007, 64, 938-944.
31. Dexter, D.T.; Carter, C.J.; Wells, F.R.; Javoy-Agid, F.; Agid, Y.; Lees, A.; Jenner, P.; Marsden, C.D. Basal lipid peroxidation in substantia nigra is increased in Parkinson's disease. J. Neurochem., 1989, 52, 381-389.
32. Yoritaka, A.; Hattori, N.; Uchida, K.; Tanaka, M.; Stadtman, E.R.; Mizuno, Y. Immunohistochemical detection of 4-hydroxynonenal protein adducts in Parkinson disease. Proc. Natl. Acad. Sci. USA, 1996, 93, 2696-2701.
33. Qin, Z.; Hu, D.; Han, S.; Reaney, S.H.; Di Monte, D.A.; Fink, A. L. Effect of 4-hydroxy-2-nonenal modification on alpha-synuclein aggregation. J. Biol. Chem., 2007, 282, 5862-5870.
34. Alam, Z.I.; Jenner, A.; Daniel, S.E.; Lees, A.J.; Cairns, N.; Marsden, C.D.; Jenner, P.; Halliwell, B. Oxidative DNA damage in the parkinsonian brain: an apparent selective increase in 8-hydroxyguanine levels in substantia nigra. J. Neurochem., 1997, 69, 1196-1203.
35. Floor, E.; Wetzel, M.G. Increased protein oxidation in human substantia nigra pars compacta in comparison with basal ganglia and prefrontal cortex measured with an improved dinitrophenylhydrazine assay. J. Neurochem., 1998, 70, 268-275.
36. Giasson, B.I.; Duda, J.E.; Murray, I.V.; Chen, Q.; Souza, J.M.; Hurtig, H.I.; Ischiropoulos, H.; Trojanowski, J.Q.; Lee, V.M. Oxidative damage linked to neurodegeneration by selective alphasynuclein nitration in synucleinopathy lesions. Science, 2000, 290, 985-989.
37. Keeney, P.M.; Xie, J.; Capaldi, R.A.; Bennett, J.P., Jr. Parkinson's disease brain mitochondrial complex I has oxidatively damaged subunits and is functionally impaired and misassembled. J. Neurosci., 2006, 26, 5256-5264.
38. Nakabeppu, Y.; Tsuchimoto, D.; Yamaguchi, H.; Sakumi, K. Oxidative damage in nucleic acids and Parkinson's disease. J. Neurosci. Res., 2007, 85, 919-934.
39. Aruoma, O.I.; Halliwell, B.; Gajewski, E.; Dizdaroglu, M. Damage to the bases in DNA induced by hydrogen peroxide and ferric ion chelates. J. Biol. Chem., 1989, 264, 20509-20512.
40. Spencer, J.P.; Wong, J.; Jenner, A.; Aruoma, O.I.; Cross, C.E.; Halliwell, B. Base modification and strand breakage in isolated calf thymus DNA and in DNA from human skin epidermal keratinocytes exposed to peroxynitrite or 3-morpholinosydnonimine. Chem. Res. Toxicol., 1996, 9, 1152-1158.
41. Halliwell, B.; Dizdaroglu, M. The measurement of oxidative damage to DNA by HPLC and GC/MS techniques. Free Radic. Res. Commun., 1992, 16, 75-87.
42. Selley, M.L. (E)-4-hydroxy-2-nonenal may be involved in the pathogenesis of Parkinson's disease. Free Radic. Biol. Med., 1998, 25, 169-174.
43. Buhmann, C.; Arlt, S.; Kontush, A.; Moller-Bertram, T.; Sperber, S.; Oechsner, M.; Stuerenburg, H. J.; Beisiegel, U. Plasma and CSF markers of oxidative stress are increased in Parkinson's disease and influenced by antiparkinsonian medication. Neurobiol. Dis., 2004, 15, 160-170.
44. Sohmiya, M.; Tanaka, M.; Tak, N.W.; Yanagisawa, M.; Tanino, Y.; Suzuki, Y.; Okamoto, K.; Yamamoto, Y. Redox status of plasma coenzyme Q10 indicates elevated systemic oxidative stress in Parkinson's disease. J. Neurol. Sci., 2004, 223, 161-166.
45. Prigione, A.; Begni, B.; Galbussera, A.; Beretta, S.; Brighina, L.; Garofalo, R.; Andreoni, S.; Piolti, R.; Ferrarese, C. Oxidative stress in peripheral blood mononuclear cells from patients with Parkinson's disease: negative correlation with levodopa dosage. Neurobiol. Dis., 2006, 23, 36-43.
46. Kikuchi, A.; Takeda, A.; Onodera, H.; Kimpara, T.; Hisanaga, K.; Sato, N.; Nunomura, A.; Castellani, R. J.; Perry, G.; Smith, M. A.; Itoyama, Y. Systemic increase of oxidative nucleic acid damage in Parkinson's disease and multiple system atrophy. Neurobiol. Dis., 2002, 9, 244-248.
47. Abe, T.; Isobe, C.; Murata, T.; Sato, C.; Tohgi, H. Alteration of 8-hydroxyguanosine concentrations in the cerebrospinal fluid and serum from patients with Parkinson's disease. Neurosci. Lett., 2003, 336, 105-108.
48. Sofic, E.; Lange, K.W.; Jellinger, K.; Riederer, P. Reduced and oxidized glutathione in the substantia nigra of patients with Parkinson's disease. Neurosci. Lett., 1992, 142, 128-130.
49. Sian, J.; Dexter, D.T.; Lees, A.J.; Daniel, S.; Agid, Y.; Javoy-Agid, F.; Jenner, P.; Marsden, C.D. Alterations in glutathione levels in Parkinson's disease and other neurodegenerative disorders affecting basal ganglia. Ann. Neurol., 1994, 36, 348-355.
50. Hsu, M.; Srinivas, B.; Kumar, J.; Subramanian, R.; Andersen, J. Glutathione depletion resulting in selective mitochondrial complex I inhibition in dopaminergic cells is via an NO-mediated pathway not involving peroxynitrite: implications for Parkinson's disease. J. Neurochem., 2005, 92, 1091-1103.
51. Chinta, S.J.; Andersen, J.K. Reversible inhibition of mitochondrial complex I activity following chronic dopaminergic glutathione depletion in vitro: implications for Parkinson's disease. Free Radic. Biol. Med., 2006, 41, 1442-1448.
52. Maker, H.S.; Weiss, C.; Silides, D.J.; Cohen, G. Coupling of dopamine oxidation (monoamine oxidase activity) to glutathione oxidation via the generation of hydrogen peroxide in rat brain homogenates. J. Neurochem., 1981, 36, 589-593.
53. Gesi, M.; Santinami, A.; Ruffoli, R.; Conti, G.; Fornai, F. Novel aspects of dopamine oxidative metabolism (confounding outcomes take place of certainties). Pharmacol. Toxicol., 2001, 89, 217-224.
54. Graham, D. G. Oxidative pathways for catecholamines in the genesis of neuromelanin and cytotoxic quinones. Mol. Pharmacol., 1978, 14, 633-643.
55. Sulzer, D.; Zecca, L. Intraneuronal dopamine-quinone synthesis: a review. Neurotox. Res., 2000, 1, 181-195.
56. Tse, D.C.; McCreery, R.L.; Adams, R.N. Potential oxidative pathways of brain catecholamines. J. Med. Chem., 1976, 19, 37-40.
57. Stokes, A.H.; Hastings, T.G.; Vrana, K.E. Cytotoxic and genotoxic potential of dopamine. J. Neurosci. Res., 1999, 55, 659-665.
58. Hastings, T.G. Enzymatic oxidation of dopamine: the role of prostaglandin H synthase. J. Neurochem., 1995, 64, 919-924.
59. Bandmann, O.; Sweeney, M.G.; Daniel, S.E.; Marsden, C.D.; Wood, N.W. Mitochondrial DNA polymorphisms in pathologically proven Parkinson's disease. J. Neurol., 1997, 244, 262-265.
60. Simon, D.K.; Mayeux, R.; Marder, K.; Kowall, N.W.; Beal, M. F.; Johns, D.R. Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease. Neurology, 2000, 54, 703-709.
61. Richter, G.; Sonnenschein, A.; Grunewald, T.; Reichmann, H.; Janetzky, B. Novel mitochondrial DNA mutations in Parkinson's disease. J. Neural. Transm., 2002, 109, 721-729.
62. Smigrodzki, R.; Parks, J.; Parker, W.D. High frequency of mitochondrial complex I mutations in Parkinson's disease and aging. Neurobiol. Aging, 2004, 25, 1273-1281.
63. Parker, W.D., Jr.; Parks, J.K. Mitochondrial ND5 mutations in idiopathic Parkinson's disease. Biochem. Biophys. Res. Commun., 2005, 326, 667-669.
64. Schoeler, S.; Hertel, S.; Haroon, M.F.; Winkler-Stuck, K.; Mawrin, C.; Kirches, E. Absence of major accumulation of mitochondrial ND5 mutations in Parkinson patient muscle. Clin. Neuropathol., 2007, 26, 164-168.
65. Pallotti, F.; Chen, X.; Bonilla, E.; Schon, E.A. Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging. Am. J. Hum. Genet., 1996, 59, 591-602.
66. Wiedemann, F.R.; Manfredi, G.; Mawrin, C.; Beal, M.F.; Schon, E.A. Mitochondrial DNA and respiratory chain function in spinal cords of ALS patients. J. Neurochem., 2002, 80, 616-625.
67. Winkler-Stuck, K.; Kirches, E.; Mawrin, C.; Dietzmann, K.; Lins, H.; Wallesch, C. W.; Kunz, W. S.; Wiedemann, F. R. Reevaluation of the dysfunction of mitochondrial respiratory chain in skeletal muscle of patients with Parkinson's disease. J. Neural. Transm., 2005, 112, 499-518.
68. Corral-Debrinski, M.; Horton, T.; Lott, M. T.; Shoffner, J. M.; Beal, M. F.; Wallace, D. C. Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age. Nat. Genet., 1992, 2, 324-329.
69. Soong, N.W.; Hinton, D.R.; Cortopassi, G.; Arnheim, N. Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain. Nat. Genet., 1992, 2, 318-323.
70. Rossignol, R.; Faustin, B.; Rocher, C.; Malgat, M.; Mazat, J. P.; Letellier, T. Mitochondrial threshold effects. Biochem. J., 2003, 370, 751-762.
71. Bender, A.; Krishnan, K.J.; Morris, C.M.; Taylor, G.A.; Reeve, A.K.; Perry, R.H.; Jaros, E.; Hersheson, J.S.; Betts, J.; Klopstock, T.; Taylor, R.W.; Turnbull, D.M. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat. Genet., 2006, 38, 515-517.
72. Reeve, A.K.; Krishnan, K.J.; Taylor, G.; Elson, J.L.; Bender, A.; Taylor, R.W.; Morris, C.M.; Turnbull, D.M. The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons. Aging Cell, 2009, 8, 496-498
73. Kraytsberg, Y.; Kudryavtseva, E.; McKee, A.C.; Geula, C.; Kowall, N.W.; Khrapko, K. Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons. Nat. Genet., 2006, 38, 518-520.
74. Bender, A.; Schwarzkopf, R.M.; McMillan, A.; Krishnan, K.J.; Rieder, G.; Neumann, M.; Elstner, M.; Turnbull, D. M.; Klopstock, T. Dopaminergic midbrain neurons are the prime target for mitochondrial DNA deletions. J. Neurol., 2008, 255, 1231-1235.
75. Reeve, A.K.; Krishnan, K.J.; Elson, J.L.; Morris, C.M.; Bender, A.; Lightowlers, R.N.; Turnbull, D.M. Nature of mitochondrial DNA deletions in substantia nigra neurons. Am. J. Hum. Genet., 2008, 82, 228-235.
76. Clayton, D.A. Replication of animal mitochondrial DNA. Cell, 1982, 28, 693-705.
77. Schon, E.A.; Rizzuto, R.; Moraes, C.T.; Nakase, H.; Zeviani, M.; DiMauro, S.A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science, 1989, 244, 346-349.
78. Madsen, C.S.; Ghivizzani, S.C.; Hauswirth, W.W. In vivo and in vitro evidence for slipped mispairing in mammalian mitochondria. Proc. Natl. Acad. Sci. U.S.A., 1993, 90, 7671-7675.
79. Holt, I.J.; Lorimer, H.E.; Jacobs, H.T. Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA. Cell, 2000, 100, 515-524.
80. Krishnan, K.J.; Reeve, A.K.; Samuels, D.C.; Chinnery, P.F.; Blackwood, J.K.; Taylor, R.W.; Wanrooij, S.; Spelbrink, J.N.; Lightowlers, R.N.; Turnbull, D.M. What causes mitochondrial DNA deletions in human cells? Nat. Genet., 2008, 40, 275-279.
81. Srivastava, S.; Moraes, C.T. Double-strand breaks of mouse muscle mtDNA promote large deletions similar to multiple mtDNA deletions in humans. Hum. Mol. Genet., 2005, 14, 893-902.
82. Fukui, H.; Moraes, C.T. Mechanisms of formation and accumulation of mitochondrial DNA deletions in aging neurons. Hum. Mol. Genet., 2009, 18, 1028-1036.