Mitochondrial DNA mutations and mitochondrial dysfunction in epilepsy

Epilepsia

Volumn 40, Issue SUPPL. 3, 1999, Pages 33-40

  Cock, H ^a   Schapira, A H V ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CALCIUM; CARBAMAZEPINE; ETHOSUXIMIDE; FREE RADICAL; GLUTAMATE RECEPTOR; MITOCHONDRIAL DNA; N METHYL DEXTRO ASPARTIC ACID; PHENYTOIN; POLYPEPTIDE; RIBOSOME RNA; TRANSFER RNA;

CONFERENCE PAPER; EPILEPSY; EPILEPTOGENESIS; GENE; HUMAN; MELAS SYNDROME; MITOCHONDRION; MUTATION; PRIORITY JOURNAL; RESPIRATORY CHAIN;

CALCIUM; DNA, MITOCHONDRIAL; EPILEPSY; FREE RADICALS; HUMANS; MELAS SYNDROME; MERRF SYNDROME; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MITOCHONDRIAL MYOPATHIES; MUTATION; NEUROTOXINS;

EID: 0032811737     PISSN: 00139580     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1528-1157.1999.tb00897.x     Document Type: Conference Paper

References (90)

1. Anderson S, Bankier AT, de Bruijin MHL, et al. Sequence and organization of the human mitochondrial genome. Nature 1981; 290:457-65.
2. Cooper JM, Clark JB. The structural organization of the mitochondrial respiratory chain. In: Schapira AHV, Di Mauro S, eds. Mitochondrial disorders in neurology. Oxford: Butterworth-Heinemann, 1995:1-30.
3. Holt U, Cooper JM, Morgan-Hughes JA, Harding AE. Deletions of muscle mitochondrial DNA. Lancet 1988;1:1462.
4. Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;242:1427-30.
5. Schapira AHV. Evidence for mitochondrial dysfunction in Parkinson's disease: a critical appraisal. Mov Disord 1994;9:125-38.
6. Gu M, Gash MT, Mann VM, Javoy-Agid F, Cooper JM, Schapira AHV. Mitochondrial defect in Huntington's disease caudate nucleus. Ann Neurol 1996;39:385-9.
7. Corral-Debrinski M, Horton T, Lott MT, et al. Marked changes in mitochondrial DNA deletion levels in Alzheimer's brains. Genomics 1994;23:471-6.
8. Clayton DA. Structure and function of the mitochondrial genome. J Inher Metab Dis 1992;15:439-47.
9. Clayton DA. Transcription and replication of animal mitochondrial DNAs. Int Rev Cytol 1992;141:217-32.
10. Villena JA, Martin I, Viñas O, et al. ETS transcription factors regulate the expression of the gene for the human mitochondrial ATP synthase β-subunit. J Biol Chem 1994;269:32649-54.
11. Taanman J-W. The human mitochondrial genome: structure, transcription, translation and replication. In: Schapira AHV, ed. Mitochondrial diseases. Biochim Biophys Acta 1999;1410:103-23.
12. Ghosh SS, Fahy E, Bodis-Wollner I, Sherman J, Howell N. Longitudinal study of heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing. Am J Hum Genet 1996;58:325-34.
13. Dunbar DR, Moonie PA, Jacobs HT, Holt IJ. Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes. Proc Natl Acad Sci USA 1995;92: 6562-6.
14. Carelli V, Ghelli A, Ratta M, et al. Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype. Neurology 1997;48:1623-32.
15. De Vries D, de Wijs I, Ruitenbeek W, et al. Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation. J Neurol Sci 1994;124:77-82.
16. Darley-Usmar VM, Ragan CI, Smith PR, Wilson MT. The proteins of the mitochondrial inner membrane and their role in oxidative phosphorylation. In: Darley-Usmar VM, Schapira AHV, eds. Mitochondria: DNA, proteins and disease. London: Portland Press, 1994:1-27.
17. McCormack JG Denton RM. Mammalian mitochondrial metabolism and its regulation. In: Darley-Usmar VM, Schapira AHV, eds. Mitochondria: DNA, proteins and disease. Vol 1. London: Portland Press, 1994:81-112.
18. Hopkins A. Epilepsy. In: Weatherall DJ, Ledingham JGG, Warrell DA, eds. Oxford textbook of medicine. Oxford: Oxford University Press, 1987:21.53-21.60.
19. Tsaris P, Engel WK, Kark P. Familial myoclonic epilepsy syndrome associated with skeletal muscle mitochondrial abnormalities. Neurology 1973;23:408.
20. Lys mutation. Cell 1990;61:931-7.
21. Leu(UUR) A→G(3243) mutation: a clinical and genetic study. Brain 1995;118:721-34.
22. Lys gene associated with myoclonic epilepsy and ragged-red fibres (MERRF). Am J Hum Genet 1992; 51:1213-7.
23. Moraes CT, Ciacci F, Bonilla E, et al. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. J Clin Invest 1993;92:2906-15.
24. Morgan Hughes JA, Hanna MG. Mitochondrial encephalomyopathies. The enigma of genotype versus phenotype. In: Schapira AHV, ed. Mitochondrial diseases. Biochim Biophys Acta 1999;1410:125-45.
25. Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990;348:651-3.
26. Shoffner JM, Fernhoff PM, Krawiecki NS, et al. Subacute necrotizing encephalomyopathy:oxidative phosphorylation defects and the ATPase 6 point mutation. Neurology 1992;42:2168-74.
27. Tiranti V, Hoertnagel K, Carrozzo R, et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 1998;63:1609-21.
28. Holt IJ, Harding AE, Petty RKH, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990;46:428-33.
29. Moraes CT, Shanske S, Tritschler H-J, et al. MtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 1991;48:492-501.
30. Taanman J-W, Bodnar AG, Cooper JM, et al. Molecular mechanisms in mitochondrial DNA depletion syndrome. Hum Mol Genet 1997;6:935-42.
31. Moraes CT, 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.
32. Riordan-Eva P, Harding AE. Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations. J Med Genet 1995;32:81-7.
33. Hattori N, Tanaka M, Sugiyama S, et al. Age-dependent increase in deleted mitochondrial DNA in human heart: possible contributory factor to presbycardia. Am Heart J 1991;121:1735-42.
34. Schapira AHV. Respiratory chain abnormalities in human disease. In: Darley-Usmar VM, Schapira AHV, eds. Mitochondria: DNA, proteins and disease. London: Portland Press, 1994:241-78.
35. Bentlage HACM, Janssen AJM, Chomyn A, et al. Multiple deficiencies of mitochondrial DNA - and nuclear-encoded subunits of respiratory NADH dehydrogenase detected with peptide - and subunit-specific antibodies in mitochondrial myopathies. Biochim Biophys Acta 1995;1234:63-73.
36. Hanna MG, Nelson IP, Morgan-Hughes JA, Harding AE. Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A to G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA. J Neurol Sci 1995;130:154-60.
37. Kuriyama M, Umezaki H, Fukuda Y, et al. Mitochondrial encephalomyopathy with lactate-pyruvate elevation and brain infarction. Neurology 1984;34:72-7.
38. Harding AE. Spontaneous errors of mitochondrial DNA in human disease. In: DiMauro S, Wallace DC, eds. Mitochondrial DNA in human pathology. New York: Raven Press, 1993:53-63.
39. Kwittken J Barest HD. The neuropathology of hereditary optic atrophy (Leber's disease): the first complete anatomic study. Am J Pathol 1958;34:185-207.
40. Barkovich AJ, Good WV, Koch TK, Berg BO. Mitochondrial disorders: analysis of their clinical and imaging characteristics. Am J Neuroradiol 1993;14:1119-37.
41. Paulus W, Straube A, Bauer W, Harding AE. Central nervous system involvement in Leber's optic neuropathy. J Neurol 1993; 240:251-3.
42. Ciafaloni E, Ricci E, Shanske S, et al. MELAS: clinical features, biochemistry and molecular genetics. Ann Neurol 1992;31:391-8.
43. Leu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome. Neurology 1991;41:1663-5.
44. Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP. Mitochondrial rayopathy, encephalopathy, lactic acidosis and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 1984;16:481-8.
45. Hasegawa H, Matsuoka T, Goto Y-I, Nonaka I. Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. Ann Neurol 1991;29:601-5.
46. Nicoll JA, Moss TH, Love S, Campbell MJ, Schutt WH. Clinical and autopsy findings in two cases of MELAS presenting with stroke-like episodes but without clinical myopathy. Clin Neuropathol 1993;12:38-43.
47. Rötig A, Colonna M, Bonnefont JP, et al. Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet 1989;1: 902-3.
48. Bernes SM, Bacino C, Prezant TR, et al. Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome. J Pediatr 1993;123:598-602.
49. McShane MA, Hammans SR, Sweeney M, et al. Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. Am J Hum Genet 1991;48:39-42.
50. Hevner RF, Wong-Riley MT. Neuronal expression of nuclear and mitochondrial genes for cytochrome oxidase (CO) subunits analyzed by in situ hybridization: comparison with CO activity and protein. J Neurosci 1991;11:1942-58.
51. Cock HR, Tabrizi SJ, Cooper JM, Schapira AHV. The influence of nuclear background on the biochemical expression of 3460 LHON. Ann Neurol 1998;44:187-93.
52. Smith PR, Cooper JM, Govan GG, Harding AE, Schapira AHV. Smoking and mitochondrial function: a model for environmental toxins. Q J Med 1993;86:657-60.
53. Cadenas E, Boveris A, Ragan CI, Stoppani AOM. Production of Superoxide radicals and hydrogen peroxide by NADH-ubiquinone reductase and ubiquinol-cytochrome c reductase from beef heart mitochondria. Arch Biochem Biophys 1977;180:248-57.
54. Sinha BK, Singh Y, Krishna G. Formation of superoxide and hydroxyl radicals from 1-methyl-4-phenylpyridinium ion (MPP+): reductive inactivation by NADPH cytochrome P-450 reductase. Biochem J 1986;135:583-8.
55. Zhang Y, Marcillat O, Giulivi C, Ernster L, Davies JA. The oxidative inactivation of mitochondrial electron transport chain components and ATPase. J Biol Chem 1990;265:16330-6.
56. Pacifici RE, Devies KJ. Protein, lipid and DNA repair systems in oxidative stress: the free radical theory of ageing revisited. Gerontology 1991;37:66-80.
57. Sander T, Peters C, Janz D, et al. The gene encoding the alpha1A-voltage-dependent calcium channel (CACN1A4) is not a candidate for causing common subtypes of idiopathic generalized epilepsy. Epilepsy Res 1998;29:115-22.
58. Tsakiridou E, Bertollini L, de CM, Avanzini G, Pape HC. Selective increase in T-type calcium conductance of reticular thalamic neurons in a rat model of absence epilepsy. J Neurosci 1995;15:3110-7.
59. Biervert C, Schroeder BC, Kubisch C, et al. A potassium channel mutation in neonatal human epilepsy. Science 1998;279:403-6.
60. Singh NA, Charlier C, Stauffer D, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 1998;18:25-9.
61. Steinlein OK, Magnusson A, Stoodt J, et al. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet 1997;6:943-7.
62. Meldrum B. Excitotoxicity and epileptic brain damage. Epilepsy Res 1991;10:55-61.
63. Olsen RW, Avoli M. GABA and epileptogenesis [Review]. Epilepsia 1997;38:399-407.
64. Heinemann U, Lux HD, Gutnick MJ. Extracellular free calcium and potassium during paroxysmal activity in the cerebral cortex of the cat. Exp Brain Res 1977;27:237-43.
65. 2+ uptake and amino acid neurotransmitter release in vitro. Epilepsia 1987;28:378-82.
66. Miller RJ. How many types of calcium channels exist in neurones? Trends Neurosci 1985;8:45-7.
67. 2+ channel blockers. J Neurosci 1985;5:841-9.
68. Van Luijtelaar ELJM, Ates N, Coenen AM. Role of L-type calcium channel modulation in nonconvulsive epilepsy in rats. Epilepsia 1995;36:86-92.
69. Steriade M, McCormick DA, Sejnowski TJ. Thalamocortical oscillations in the sleeping and aroused brain. Science 1993;262:679-85.
70. Coulter DA, Huguenard JR, Prince DA. Characterization of ethosuximide reduction of low-threshold calcium current in thalamic neurons. Ann Neurol 1989;25:582-93.
71. Choi DW. Glutamate neurotoxicity in cortical cell culture is calcium dependent. Neurosci Lett 1985;58:293-7.
72. 2+ permeability, conductance, and gating of human alpha-4-beta-2 nicotinic acetylcholine receptors. J Neurosci 1997;17: 9035-47.
73. Nicholls DG. A role for the mitochondrion in the protection of cells against calcium overload? Prog Brain Res 1985;63:97-106.
74. Bernardi P, Petronilli V. The permeability transition pore as a mitochondrial calcium release channel: a critical appraisal. J Bioenerg Biomemb 1996;28:131-8.
75. Ichas F, Jouaville LS, Mazat JP. Mitochondria are excitable organelles capable of generating and conveying electrical and calcium signals. Cell 1997;89:1145-53.
76. 2+ exchange buffer glutamate-induced calcium loads in cultured cortical neurons. J Neurosci 1995;15:1318-28.
77. Moudy AM, Handran SD, Goldberg MP, et al. Abnormal calcium homeostasis and mitochondrial polarization in a human encephalomyopathy. Proc Natl Acad Sci USA 1995;92:729-33.
78. Luo Y, Bond JD, Ingram VM. Compromised mitochondrial function leads to increased cytosolic calcium and to activation of MAP kinases. Proc Natl Acad Sci USA 1997;94:9705-10.
79. Wasterlain CG, Fujikawa DG, Penix L, Sankar R. Pathophysiological mechanisms of brain damage from status epilepticus. Epilepsia 1993;34(suppl 1):S37-53.
80. Haglid KG, Wang S, Qiner Y, Hamberger A. Excitotoxicity: experimental correlates to human epilepsy. Mol Neurobiol 1994;9: 259-63.
81. Cendes F, Andermann F, Carpenter S, Zatorre RJ, Cashman NR. Temporal lobe epilepsy caused by domoic acid intoxication: evidence for glutamate receptor-mediated excitotoxicity in humans. Ann Neurol 1995;37:123-6.
82. Meldrum BS. Excitotoxicity and selective neuronal loss in epilepsy. Brain Pathol 1993;3:405-12.
83. Wasterlain CG, Shirasaka Y. Seizures, brain damage and brain development. Brain Dev 1994;16:279-95.
84. Beal M. Does impairment of energy metabolism result in excitotoxic neuronal death in neurodegenerative illnesses? Ann Neurol 1992;31:119-30.
85. Portera-Cailliau C, Hedreen JC, Price DL, Koliatsos VE. Evidence for apoptotic cell death in Huntington disease and excitotoxic animal models. J Neurosci 1995;15:3775-87.
86. Ankarcrona M, Dypbukt JM, Bonfoco E, et al. Glutamate-induced neuronal death: a succession of necrosis or apoptosis depending on mitochondrial function. Neuron 1995;15:961-73.
87. Budd SL, Nicholls DG. Mitochondria, calcium regulation, and acute glutamate excitotoxicity in cultured cerebellar granule cells. J Neurochem 1996;67:2282-91.
88. Schinder AF, Olson EC, Spitzer NC, Montal M. Mitochondrial dysfunction is a primary event in glutamate neurotoxicity. J Neurosci 1996;16:6125-33.
89. Stout AK, Raphael HM, Kanterewicz BI, Klann E, Reynolds IJ. Glulamate-induced neuron death requires mitochondrial calcium uptake. Nat Neurosci 1998;1:366-73.
90. Rosenmund C, Feltz A, Westbrook GL. Calcium-dependent inactivation of synaptic NMDA receptors in hippocampal neurons. J Neurophysiol 1995;73:427-30.