Energetics in the pathogenesis of neurodegenerative diseases

Trends in Neurosciences

Volumn 23, Issue 7, 2000, Pages 298-304

  Beal, M Flint ^a  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALZHEIMER DISEASE; APOPTOSIS; DEGENERATIVE DISEASE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FRIEDREICH ATAXIA; HUMAN; HUNTINGTON CHOREA; NECROSIS; NERVE DEGENERATION; PARKINSON DISEASE; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; WILSON DISEASE;

ANIMALS; CELL DEATH; DNA, MITOCHONDRIAL; HUMANS; MITOCHONDRIA; NECROSIS; NEURODEGENERATIVE DISEASES;

EID: 0034237719     PISSN: 01662236     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0166-2236(00)01584-8     Document Type: Review

References (116)

1. 1 Ankarcrona, M. et al. (1995) Glutamate-induced neuronal death: a succession of necrosis or apoptosis depending on mitochondrial function. Neuron 15, 961-973
2. 2 Schinder, A.F. et al. (1996) Mitochondrial dysfunction is a primary event in glutamate neurotoxicity. J. Neurosci. 16, 6125-6133
3. 3 White, R.J. and Reynolds, I.J. (1996) Mitochondrial depolarization in glutamate-stimulated neurons: an early signal specific to excitotoxin exposure. J. Neurosci. 16, 5688-5697
4. 4 Bordelon, Y.M. et al. (1997) Energetic dysfunction in quinolinic acid-lesioned rat striatum. J. Neurochem. 69, 1629-1639
5. 5 Budd, S.L. and Nicholls, D.G. (1996) Mitochondria, calcium regulation, and acute glutamate excitotoxicity in cultured cerebellar granule cells. J. Neurochem. 67, 2282-2291
6. 6 Stout, A.K. et al. (1998) Glutamate-induced neuron death requires mitochondrial calcium uptake. Nat. Neurosci. 1, 366-373
7. 7 Dugan, L.L. et al. (1995) Mitochondrial production of reactive oxygen species in cortical neurons following exposure to N-methyl-D-aspartate. J. Neurosci. 15, 6377-6388
8. 8 Peng, T.I. and Greenamyre, J.T. (1998) Privileged access to mitochondria of calcium influx through N-methyl-D-aspartate receptors. Mol. Pharmacol. 53, 974-980
9. 9 Reynolds, I.J. and Hastings, T.G. (1995) Glutamate induces the production of reactive oxygen species in cultured forebrain neurons following NMDA receptor activation. J. Neurosci. 15, 3318-3327
10. 10 Green, D.R. and Reed, J.C. (1998) Mitochondria and apoptosis. Science 281, 1309-1312
11. 11 Desagher, S. et al. (1999) Bid-induced conformational change of Bax is responsible for mitochondrial cytochrome c release during apoptosis. J. Cell. Biol. 144, 891-901
12. 12 Friberg, H. et al (1998) Cyclosporin A, but not FK 506, protects mitochondria and neurons against hypoglycemic damage and implicates the mitochondrial permeability transition in cell death. J. Neurosci. 18, 5151-5159
13. 13 Boveris, A. and Chance, B. (1973) The mitochondrial generation of hydrogen peroxide. Biochem. J. 134, 707-716
14. 14 King, M.P. and Attardi, G. (1989) Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 246, 500-503
15. 15 Swerdlow, R.H. et al. (1998) Mitochondria in sporadic amyotrophic lateral sclerosis. Exp. Neurol. 153, 135-142
16. 16 Swerdlow, R.H. et al. (1996) Origin and functional consequences of the complex I defect in Parkinson's disease. Ann. Neurol. 40, 663-671
17. 17 Miller, S.W. et al. (1996) Creation and characterization of mitochondrial DNA-depleted cell lines with 'neuronal-like' properties. J. Neurochem. 67, 1897-1907
18. 18 Swerdlow, R.H. et al. (1997) Cybrids in Alzheimer's disease: a cellular model of the disease? Neurology 49, 918-925
19. 19 Koutnikova, H. et al. (1997) Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat. Genet. 16, 345-351
20. 20 Babcock, M. et al. (1997) Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 276, 1709-1712
21. 21 Wilson, R.B. and Roof, D.M. (1997) Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat. Genet. 16, 352-357
22. 22 Radisky, D.C. et al. (1999) The yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle. J. Biol. Chem. 274, 4497-4499
23. 23 Priller, J. et al. (1997) Frataxin gene of Friedreich's ataxia is targeted to mitochondria. Ann. Neurol. 42, 265-269
24. 24 Rotig, A. et al. (1997) Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat. Genet. 17, 215-217
25. 25 Delatycki, M.B. et al. (1999) Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia. Ann. Neurol. 45, 673-675
26. 26 Waldvogel, D.P. et al. (1999) Increased iron in the dentate nucleus of patinets with Friedreich's ataxia. Ann. Neurol. 46, 123-125
27. 27 Wong, A. et al. (1999) The Fredreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis. Hum. Mol. Genet. 8, 425-430
28. 28 Lodi, R. et al. (1999) Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc. Natl. Acad. Sci. U. S. A. 96, 11492-11495
29. 29 Ouahchi, K. et al. (1995) Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat. Genet. 9, 141-145
30. 30 Lutsenko, S. and Cooper, M.J. (1998) Localization of the Wilson's disease protein product to mitochondria. Proc. Natl. Acad. Sci. U. S. A. 95, 6004-6009
31. 31 Buiakova, O.I. et al. (1999) Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation. Hum. Mol. Genet. 8, 1665-1671
32. 32 Hamza, I. et al. (1999) Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis. Proc. Natl. Acad. Sci. U. S. A. 96, 13363-13368
33. 33 Nair, J. (1999) Lipid peroxidation-induced etheno-DNA adducts in humans. IARC Sci. Publ. 150, 55-61
34. 34 Casari, G. et al. (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93, 973-983
35. 35 Sriram, K. et al. (1998) Thiol oxidation and loss of mitochondrial complex I precede excitatory amino acid-mediated neurodegeneration. J. Neurosci. 18, 10287-10296
36. 36 Shoffner, J.M. et al. (1995) Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation. Ann. Neurol. 38, 163-169
37. 37 Koehler, C.M. et al. (1999) Human deafness dystonia syndrome is a mitochondrial disease. Proc. Natl. Acad. Sci. U. S. A. 96, 2141-2146
38. 38 Jin, H. et al. (1999) The human family of deafness/dystonia peptide (DDP) related mitochondrial import proteins. Genomics 61, 259-267
39. 39 Tiranti, V. et al. (1999) Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann. Neurol. 46, 161-166
40. 40 Zhu, Z. et al. (1998) SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat. Genet. 20, 337-343
41. 41 The Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72, 971-983
42. 42 Beal, M.F. (1992) Does impairment of energy metabolism result in excitotoxic neuronal death in neurodegenerative illnesses? Ann. Neurol. 31, 119-130
43. 43 Jenkins, B. et al. (1993) Evidence for an energy metabolism defect in Huntington's disease using localized proton spectroscopy. Neurology 43, 2689-2695
44. 10. Ann. Neurol. 41, 160-165
45. 45 Beal, M.F. et al. (1993) Age-dependent striatal excitotoxic lesions produced by the endogenous mitochondrial inhibitor malonate. J. Neurochem. 61, 1147-1150
46. 46 Brouillet, E. et al. (1995) Chronic mitochondrial energy impairment produces selective striatal degeneration and abnormal choreiform movements in primates. Proc. Natl. Acad. Sci. U. S. A. 92, 7105-7109
47. 10 and nicotinamide block striatal lesions produced by the mitochondrial toxin malonate. Ann. Neurol. 36, 882-888
48. 48 Sanchez-Pernaute, R. et al. (1999) Clinical correlation of striatal 1H MRS changes in Huntington's disease. Neurology 53, 806-812
49. 49 Browne, S.E. et al. (1997) Oxidative damage and metabolic dysfunction in Huntington's disease: selective vulnerability of the basal ganglia. Ann. Neurol. 41, 646-653
50. 50 Gu, M. et al. (1996) Mitochondrial defect in Huntington's disease caudate nucleus. Ann. Neurol. 39, 385-389
51. 51 Bourgeron, T. et al. (1995) Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat. Genet. 11, 144-149
52. 52 Sawa, A. et al. (1999) Increased apoptosis of Huntington disease lymphoblasts associated with repeat length-dependent mitochondrial depolarization. Nat. Med. 5, 1194-1198
53. 53 Goebel, H.H. et al. (1978) Juvenile Huntington chorea: clinical, ultrastructural, and biochemical studies. Neurology 28, 23-31
54. 54 Obrien, C.F. et al. (1990) Extraneural metabolism in early Huntington's disease. Ann. Neurol. 28, 300-301
55. 1H MRS studies in vivo. NeuroReport 7, 1397-1400
56. 56 Jenkins, E.G. et al. Exponential decrease over time in N-acetylaspartate levels in the absence of neuronal loss and increases in glutamine and glucose in transgenic Huntington's disease mice. J. Neurochem. (in press)
57. 57 Lin, X. et al. (2000) Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1. Nat. Neurosci. 3, 157-163
58. 58 Masui, Y. et al. (1985) Functional and morphometric study of the liver in motor neuron disease. J. Neurol. 232, 15-19
59. 59 Nakano, K. et al. (1987) Hepatic ultrastructural changes and liver dysfunction in amyotrophic lateral sclerosis. Arch. Neurol. 44, 103-106
60. 60 Sasaki, S. et al. (1990) Ultrastructure of swollen proximal axons of anterior horn neurons in motor neuron disease. J. Neurol. Sci. 97, 233-240
61. 61 Wiedemann, F.R. et al. (1998) Impairment of mitochondrial function in skeletal muscle of patients with amyotrophic lateral sclerosis. J. Neurol. Sci. 156, 65-72
62. 62 Vielhaber, S. et al. (1999) Visualization of defective mitochondrial function in skeletal muscle fibers of patients with sporadic amyotrophic lateral sclerosis. J. Neurol. Sci. 169, 133-139
63. 63 Siklos, L. et al. (1996) Ultrastructural evidence for altered calcium in motor nerve terminals in amyotrophic lateral sclerosis. Ann. Neurol. 39, 203-219
64. 64 Borthwick, G.M. et al. (1999) Mitochondrial enzyme activity in amyotrophic lateral sclerosis: implications for the role of mitochondria in neuronal cell death. Ann. Neurol. 46, 787-790
65. 65 Curti, D. et al. (1996) Amyotrophic lateral sclerosis: oxidative energy metabolism and calcium homeostasis in peripheral blood lymphocytes. Neurology 47, 1060-1064
66. 66 Comi, G.P. et al. (1998) Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease. Ann. Neurol. 43, 110-116
67. 67 Rosen, D.R. et al. (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362, 59-62
68. 2+ concentration in transfected neuroblastoma SH-SY5Y cells. FEBS Lett. 414, 365-368
69. 69 Dal Canto, M.C. and Gurney, M.E. (1994) Development of central nervous system pathology in a murine transgenic model of human amyotrophic lateral sclerosis. Am. J. Pathol. 145, 1271-1280
70. 70 Gurney, M.E. et al. (1994) Motor neuron degeneration in mice that express a human Cu/Zn superoxide dismutase mutation. Science 264, 1772-1775
71. 71 Wong, P.C. et al. (1995) An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron 14, 1105-1116
72. 72 Kong, J. and Xu, Z. (1998) Massive mitochondrial degeneration in motor neurons triggers the onset of amyotrophic lateral sclerosis in mice expressing a mutant SOD1. J. Neurosci. 18, 3241-3250
73. 73 Singer, T.P. et al. (1987) Biochemical events in the development of parkinsonism induced by MPTP. J. Neurochem. 49, 1-8
74. 74 Janetzky, B. et al. (1994) Unaltered aconitase activity, but decreased complex I activity in substantia nigra pars compacta of patients with Parkinson's disease. Neurosci. Lett. 169, 126-128
75. 75 Mann, V.M. et al. (1992) Brain, skeletal muscle and platelet homogenate mitochondrial function in Parkinson's disease. Brain 115, 333-342
76. 76 Schapira, A.H.V. et al. (1990) Mitochondrial complex I deficiency in Parkinson's disease. J. Neurochem. 54, 823-827
77. 77 Hattori, N. et al. (1991) Immunohistochemical studies on complexes I, II, III and IV of mitochondria in Parkinson's disease. Ann. Neurol. 30, 563-571
78. 78 Gu, M. et al. (1998) Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease. Ann. Neurol. 44, 177-186
79. 79 Sheehan, J.P. et al. (1997) Altered calcium homeostasis in cells transformed by mitochondria from individuals with Parkinson's disease. J. Neurochem. 68, 1221-1233
80. 80 Simon, D.K. et al. (1999) Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation. Neurology 53, 1787-1793
81. 81 Simon, D.K. et al. (2000) Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease. Neurology 54, 703-709
82. 82 Kish, S.J. et al. (1992) Brain cytochrome oxidase in Alzheimer's disease. J. Neurochem. 59, 776-779
83. 83 Mutisya, E.M. et al. (1994) Cortical cytochrome oxidase activity is reduced in Alzheimer's disease. J. Neurochem. 63, 2179-2184
84. 84 Parker, W.D., Jr and Parks, J.K. (1995) Cytochrome c oxidase in Alzheimer's disease brain: purification and characterization. Neurology 45, 482-486
85. 85 Ojaimi, J. et al. (1999) Irregular distribution of cytochrome c oxidase protein subunits in aging and Alzheimer's disease. Ann. Neurol. 46, 656-660
86. 86 Ito, S. et al. (1999) Functional integrity of mitochondrial genomes in human platelets and autopsied brain tissues from elderly patients with Alzheimer's disease. Proc. Natl. Acad. Sci. U. S. A. 96, 2099-2103
87. 87 Davis, R.E. et al. (1997) Mutations in mitochondrial cytocrome c oxidase genes segregate with late-onset Alzheimer's disease. Proc. Natl. Acad. Sci. U. S. A. 94, 4526-4531
88. 88 Davis, I. et al. (1998) Evidence that two reports of mtDNa cytochrome c oxidase 'mutations' in Alzheimer's disease are based on nDNA pseudogenes of recent evolutionary origin. Biochem. Biophys. Res. Commun. 244, 877-883
89. 89 Hirano, M. et al. (1997) Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes. Proc. Natl. Acad. Sci. U. S. A. 94, 14894-14899
90. 90 Wallace, D.C. et al. (1997) 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, 14900-14905
91. 91 Shoffner, J.M. et al. (1993) Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics 17, 171-184
92. 92 Egensperger, R. et al. (1997) Association of the mitochondrial tRNA(A4336G) mutation with Alzheimer's and Parkinson's disease. Neuropathol. Appl. Neurobiol. 23, 315-321
93. 93 Hutchin, T. and G. Cortopassi (1995) A mitochondrial DNA clone is associated with increased risk for Alzheimer disease. Proc. Natl. Acad. Sci. U. S. A. 92, 6892-6895
94. 94 Tanno, Y. et al. (1998) mtDNA polymorphisms in Japanese sporadic Alzheimer's disease. Neurobiol. Aging 19, S47-S55
95. 95 Tysoe, C. et al. (1996) The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years. J. Med. Genet. 33, 1002-1006
96. 96 Wragg, M.A. et al. (1995) No association found between Alzheimer's disease and a mitochondrial tRNA glutamine gene variant. Neurosci. Lett. 201, 107-110
97. 97 Zsurka, G. et al. (1998) No mitochondrial haplotype was found to increase risk for Alzheimer's disease. Biol. Psychiatry 44, 367-370
98. 98 Kosel, S. et al. (1994) No association of mutations at nucleotide 5460 of mitochondrial NADH dehydrogenase with Alzheimer's disease. Biochem. Biophys. Res. Commun. 203, 745-749
99. 99 Lin, F-H. et al. (1992) Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains. Biochem. Biophys. Res. Commun. 182, 238-246
100. 100 Petruzzella, V. et al. (1992) Is a point mutation in the mitochondrial ND2 gene associated with Alzheimer's disease? Biochem. Biophys. Res. Commun. 186, 491-497
101. 101 Hutchin, T.P. et al. (1997) Mitochondrial DNA mutations in Alzheimer's disease. Biochem. Biophys. Res. Commun. 241, 221-225
102. 102 Mecocci, P. et al. (1994) Oxidative damage to mitochondrial DNA is increased in Alzheimer's disease. Ann. Neurol. 36, 747-751
103. 103 Morris, M.C. et al. (1998) Vitamin E and vitamin C supplement use and risk of incident Alzheimer disease. Alzheimer Dis. Assoc. Disord. 12, 121-126
104. 104 Schmidt, R. et al. (1998) Plasma antioxidants and cognitive performance in middle-aged and older adults: results of the Austrian Stroke Prevention Study. J. Am. Geriatr. Soc. 46, 1407-1410
105. 105 Sano, M. et al. (1997) A controlled trial of selegiline, alpha-tocopherol, or both as treatment for Alzheimer's disease. New Engl. J. Med. 336, 1216-1222
106. 106 Beyer, R.E. (1992) An analysis of the role of coenzyme Q in free radical generation and as an antioxidant. Biochem. Cell Biol. 70, 390-403
107. 107 Forsmark-Andree, P. et al. (1997) Lipid peroxidation and changes in the ubiquinone content and the respiratory chain enzymes of submitochondrial particles. Free Radic. Biol. Med. 22, 391-400
108. 108 Noack, H. et al. (1994) Relations between tocopherol depletion and coenzyme Q during lipid peroxidation in rat liver mitochondria. Free Radic. Res. 20, 375-386
109. 10 administration increases brain mitochondrial concentrations and exerts neuroprotective effects. Proc. Natl. Acad. Sci. U. S. A. 95, 8892-8897
110. 110 Rustin, P. et al. (1999) Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet 354, 477-479
111. 111 Hemmer, W. and Wallimann, T. (1993) Functional aspects of creatine kinase in brain. Dev. Neurosci. 15, 249-260
112. 112 O'Gorman, E. et al. (1996) Differential effects of creatine depletion on the regulation of enzyme activities and on creatine-stimulated mitochondrial respiration in skeletal muscle, heart, and brain. Biochim. Biophys. Acta 1276, 161-170
113. 113 Matthews, R.T. et al. (1998b) Neuroprotective effects of creatine and cyclocreatine in animal models of Huntington's disease. J. Neurosci. 18, 156-163
114. 114 Matthews, R.T. et al. (1999) Creatine and cyclocreatine attenuate MPTP neurotoxicity. Exp. Neurol. 157, 142-149
115. 115 Klivenyi, P. et al. (1999) Neuroprotective effects of creatine in a transgenic animal model of amyotrophic lateral sclerosis. Nat. Med. 5, 347-350
116. 116 Ferrante, R.J. et al. Neuroprotective effects of creatine in a transgenic mouse model of Huntington's disease. J. Neurosci. (in press)