Regional heterogeneity of mtDNA heteroplasmy in Parkinsonian brain

Clinical Neuropathology

Volumn 15, Issue 6, 1996, Pages 348-352

  Schnopp, N M ^a   Kosel S ^a   Egensperger, R ^a   Graeber, M B ^a  

^a UNIVERSITY OF MUNICH   (Germany)

Author keywords

Mitochondria; Mitotic segregation; Neurodegeneration; Parkinson's disease; Point mutation

Indexed keywords

DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

ARTICLE; CASE REPORT; CONTROLLED STUDY; HUMAN; HUMAN TISSUE; MITOCHONDRION; PARKINSON DISEASE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SUBSTANTIA NIGRA;

BRAIN; DNA, MITOCHONDRIAL; HUMANS; PARKINSON DISEASE; POLYMORPHISM, GENETIC;

EID: 0029840825     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (31)

1. Attardi G, Yoneda M, Chomyn A 1995 Complementation and segregation behaviour of disease-causing mitochondrial DNA mutations in cellular model systems. Biochim Biophys Acta 1271 : 241-248
2. Bowling AC, Beat MF 1995 Bioenergetic and oxidative stress in neurodegenerative diseases. Life Sci 56: 1151-1171
3. Chen RS, Huang CC, Chu NS, Chu CC, Shih KD, Pang CY, Wei YH 1996 Tissue distribution of mutant mitochondrial DNA in a patient with MERRF syndrome. Muscle Nerve 19: 519-521
4. Cortopassi G, Wang E 1995 Modelling the effects of age-related mtDNA mutation accumulation; Complex I deficiency, Superoxide and cell death. Biochim Biophys Acta 1271: 171-176
5. Duvoisin RC 1993 The genetics of Parkinson's disease: A review. In: Narabayashi H, Nagatsu T, Yanagisawa N, Mizuno Y (ed) Advances in Neurology (Vol 60). Raven Press, New York, pp 306-315
6. Goodfellow PN, Schmitt K 1994 From the simple to the complex. Nature 371: 104-105
7. Howell N, Xu M, Halvorson S, Bodis-Wollner I, Sherman J 1994 A heteroplasmic LHON family: Tissue distribution and transmission of the 11778 mutation. Am J Hum Genet 55: 203-206
8. Hughes AJ, Daniel SE, Kilford L, Lees AJ 1992 Accuracy of clinical diagnosis of idiopathic Parkinson's disease: A clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 55: 181-184
9. Ikebe S, Tanaka M, Ohno K, Sato W, Hattori K, Kondo T, Mizuno Y, Ozawa T 1990 Increase of deleted mitochondrial DNA in the striatum in Parkinson's disease and senescence. Biochem Biophys Res Commun 170: 1044-1048
10. Janetzky B, Hauck S, Youdim MBH, Riederer P, Jellinger K, Pantucek F, Zöchling R, Boissl KW, Reichmann H 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
11. Jun AS, Brown MD, Wallace DC 1994 A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber optic neuropathy and dystonia. Proc Natl Acad Sci USA 91: 6206-6210
12. Kadenbach B Münscher C, Frank V, Müller-Höcker J, Napiwotzki J 1995 Human ageing is associated with stochastic somatic mutations of mitochondrial DNA. Mutat Res 338: 161-172
13. Kösel S, Egensperger R, Mehraein P, Graeber MB 1994 No association of mutations at nucleotide 5460 of mitochondrial NADH dehydrogenase with Alzheimer's disease. Biochem Biopbys Res Common 203: 745-749
14. Kösel S, Graeber MB 1994 Use of neuropathological tissue for molecular genetic studies: Parameters affecting DNA extraction and polymerase chain reaction. Acta Neuropathol 88: 19-25
15. Kösel S, Lücking CB, Egensperger R, Mehraein P, Graeber MB 1996 Mitochondrial NADH dehydrogenase and CYP2D6 genotypes in Lewy-body Parkinsonism. J Neurosci Res 44: 174-183
16. Landwehrmeyer GB, McNeil SM, Dure LS, Ge P, Aizawa H, Huang Q, Ambrose CM, Duyao MP, Bird ED, Bonilla E, de Young M, Avila-Gonzales AJ, Wexler NS, DiFiglia M, Gusella JF, MacDonald ME, Penney JB, Young AB, Vonsattel JP 1995 Huntington's disease gene: Regional and cellular expression in brain of normal and affected individuals. Ann Neurol 37: 218-230
17. Lertrit P, Noer AS, Byrne E, Marzuki S 1992 Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibres) encephalopathy. Hum Genet 90: 251-254
18. Leu(3243)) in tissues of symptomatic relatives with MELAS: The role of mitotic segregation. Neurology 43: 1586-1590
19. Mizuno Y, Ohta S, Tanaka M, Takamiya S, Suzuki K, Sato T, Oya H, Ozawa T, Kagawa Y 1989 Deficiencies in complex I subunits of the respiratory chain in Parkinson's disease. Biochem Biophys Res Commun 163: 1450-1455
20. Mizuno Y, Ikebe S, Hattori N, Nakagawa-Hattori Y, Mochizuki H, Tanaka M, Ozawa T 1995 Role of mitochondria in the etiology and pathogenesis of Parkinson's disease. Biochim Biophys Acta 1271: 265-274
21. Olanow CW 1993 A radical hypothesis for neurodegeneration. Trends Neurosci 16: 439-444
22. (8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres. Acta Neuropathol 90: 328-333
23. Parker WD, Boyson SJ, Parks JK 1989 Abnormalities of the electron transport chain in idiopathic Parkinson's disease. Ann Neurol 26: 719-723
24. Payami H, Larsen K, Bernard S, Nutt J 1994 Increased risk of Parkinson's disease in parents and siblings of patients. Ann Neurol 36: 659-661
25. Schapira AHV, Cooper JM, Dexter D, Jenner P, Clark JB, Marsden CD 1989 Mitochondrial complex I deficiency in Parkinson's disease. Lancet 1: 1269
26. Schapira AHV, Mann VM, Cooper JM, Dexter D, Daniel SE, Jenner P, Clark JB, Marsden CD 1990 Anatomic and disease specificity of NADH CoQ1 reductase (complex I) deficiency in Parkinson's disease. J Neurochem 55: 2142-2145
27. Schapira AHV 1995 Oxidative stress in Parkinson's disease. Neuropathol Appl Neurobiol 21: 3-9
28. Shoffner JM, Brown MD, Torroni A, Lott MT, Cabell MF, Mirra SS, Beal MF, Yang CC, Gearing M, Salvo R, Watts RL, Juacos JL, Hansen LA, Crain BJ, Fayad M, Reckord CL, Wallace DC 1993 Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics 17: 171-184
29. Tipton KF 1995 Might environmental factors contribute to neurodegenerative disease? Biochem Soc Trans 23: 429-435
30. Wallace DC 1993 Mitochondrial diseases: genotype versus phenotype. Trends Genet 9: 128-133
31. Wallace DC, Shoffner JM, Trounce I, Brown MD, Ballinger SW, Corral- DebrinskiM, Horton T, Jun AS, Lott MT 1995 Mitochondrial DNA mutations in human degenerative diseases and ageing. Biochim Biophys Acta 1271: 141-151