메뉴 건너뛰기




Volumn 54, Issue 3, 2000, Pages 703-709

Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease

Author keywords

Leber's hereditary optic neuropathy; Mitochondrial DNA; NAD(P)H dehydrogenase (quinone) Transfer RNA; PD; Polymorphism

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE DEHYDROGENASE; TRANSFER RNA;

EID: 0034620483     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.54.3.703     Document Type: Article
Times cited : (103)

References (44)
  • 1
    • 0032904634 scopus 로고    scopus 로고
    • Alpha-synuclein and Parkinson's disease
    • Editorial
    • Golbe LI. Alpha-synuclein and Parkinson's disease. Mov Disord 1999;14:6-9. Editorial.
    • (1999) Mov Disord , vol.14 , pp. 6-9
    • Golbe, L.I.1
  • 2
    • 0032499264 scopus 로고    scopus 로고
    • Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
    • Kitada T, Asakawa S, Nobutaka H, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism Nature 1998;392:605-608.
    • (1998) Nature , vol.392 , pp. 605-608
    • Kitada, T.1    Asakawa, S.2    Nobutaka, H.3
  • 3
    • 0030744876 scopus 로고    scopus 로고
    • Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
    • Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 1997;276:2045-2047.
    • (1997) Science , vol.276 , pp. 2045-2047
    • Polymeropoulos, M.H.1    Lavedan, C.2    Leroy, E.3
  • 4
    • 0028274216 scopus 로고
    • Evidence for mitochondrial dysfunction in Parkinson's disease: A critical appraisal
    • Schapira AH. Evidence for mitochondrial dysfunction in Parkinson's disease: a critical appraisal. Mov Disord 1994;9:125-138.
    • (1994) Mov Disord , vol.9 , pp. 125-138
    • Schapira, A.H.1
  • 5
    • 17344368267 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in idiopathic Parkinson disease
    • Parker WD Jr, Swerdlow RH. Mitochondrial dysfunction in idiopathic Parkinson disease. Am J Hum Genet 1998;62:758-762.
    • (1998) Am J Hum Genet , vol.62 , pp. 758-762
    • Parker W.D., Jr.1    Swerdlow, R.H.2
  • 6
    • 0031905933 scopus 로고    scopus 로고
    • Genetic aspects of Parkinson's disease
    • Bandmann O, Marsden CD, Wood NW. Genetic aspects of Parkinson's disease. Mov Disord 1998;13:203-211.
    • (1998) Mov Disord , vol.13 , pp. 203-211
    • Bandmann, O.1    Marsden, C.D.2    Wood, N.W.3
  • 7
    • 0342536246 scopus 로고    scopus 로고
    • Pathogenesis: Oxidative stress, mitochondrial dysfunction and excitotoxicity
    • Factor SA, Weiner WJ, eds. chapter 31; New York: Demos Vermande (in press)
    • Simon DK, Beal MF. Pathogenesis: oxidative stress, mitochondrial dysfunction and excitotoxicity. In: Factor SA, Weiner WJ, eds. Parkinson's disease at the millennium; chapter 31; New York: Demos Vermande (in press).
    • Parkinson's Disease at the Millennium
    • Simon, D.K.1    Beal, M.F.2
  • 8
    • 0029751103 scopus 로고    scopus 로고
    • The etiology of Parkinson's disease with emphasis on the MPTP story
    • Langston JW. The etiology of Parkinson's disease with emphasis on the MPTP story. Neurology 1996;47:S153-S160.
    • (1996) Neurology , vol.47
    • Langston, J.W.1
  • 9
    • 0032054295 scopus 로고    scopus 로고
    • Genotype in the 24-kDa subunit gene (NDUFV2) of mitochondrial complex I and susceptibility to Parkinson disease
    • Hattori N, Yoshino H, Yanaka M, Suzuki H, Mizuno Y. Genotype in the 24-kDa subunit gene (NDUFV2) of mitochondrial complex I and susceptibility to Parkinson disease. Genomics 1998;49:52-58.
    • (1998) Genomics , vol.49 , pp. 52-58
    • Hattori, N.1    Yoshino, H.2    Yanaka, M.3    Suzuki, H.4    Mizuno, Y.5
  • 10
    • 0029908226 scopus 로고    scopus 로고
    • Origin and functional consequences of the complex I defect in Parkinson's disease
    • Swerdlow RH, Parks JK, Miller SW, et al. Origin and functional consequences of the complex I defect in Parkinson's disease. Ann Neurol 1996;40:663-671.
    • (1996) Ann Neurol , vol.40 , pp. 663-671
    • Swerdlow, R.H.1    Parks, J.K.2    Miller, S.W.3
  • 11
    • 0031859395 scopus 로고    scopus 로고
    • Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease
    • Gu M, Cooper JM, Taanman JW, Schapira AH. Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease. Ann Neurol 1998;44:177-186.
    • (1998) Ann Neurol , vol.44 , pp. 177-186
    • Gu, M.1    Cooper, J.M.2    Taanman, J.W.3    Schapira, A.H.4
  • 12
    • 0031792679 scopus 로고    scopus 로고
    • Matrilineal inheritance of complex I dysfunction in a multigenerational Parkinson's disease family
    • Swerdlow RH, Parks JK, Davis JN, 2nd, et al. Matrilineal inheritance of complex I dysfunction in a multigenerational Parkinson's disease family. Ann Neurol 1998;44:873-881.
    • (1998) Ann Neurol , vol.44 , pp. 873-881
    • Swerdlow, R.H.1    Parks, J.K.2    Davis J.N. II3
  • 14
    • 0032980279 scopus 로고    scopus 로고
    • Mitochondrial disorders: Clinical and genetic features
    • Simon DK, Johns DR. Mitochondrial disorders: clinical and genetic features. Annu Rev Med 1999;50:111-127.
    • (1999) Annu Rev Med , vol.50 , pp. 111-127
    • Simon, D.K.1    Johns, D.R.2
  • 15
    • 0033452870 scopus 로고    scopus 로고
    • Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation
    • Sudarsky L, Plotkin GM, Logigian EL, Johns DR. Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation. Mov Disord 1999;14:488-491.
    • (1999) Mov Disord , vol.14 , pp. 488-491
    • Sudarsky, L.1    Plotkin, G.M.2    Logigian, E.L.3    Johns, D.R.4
  • 16
    • 0030846427 scopus 로고    scopus 로고
    • Movement disorders and mitochondrial dysfunction
    • Hanna MG, Bhatia KP. Movement disorders and mitochondrial dysfunction. Curr Opin Neurol 1997;10:351-356.
    • (1997) Curr Opin Neurol , vol.10 , pp. 351-356
    • Hanna, M.G.1    Bhatia, K.P.2
  • 17
    • 0033544323 scopus 로고    scopus 로고
    • Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation
    • Simon DK, Pulst SM, Sutton JP, Browne SE, Beal MF, Johns DR. Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation. Neurology 1999;53:1787-1793.
    • (1999) Neurology , vol.53 , pp. 1787-1793
    • Simon, D.K.1    Pulst, S.M.2    Sutton, J.P.3    Browne, S.E.4    Beal, M.F.5    Johns, D.R.6
  • 18
    • 0026514953 scopus 로고
    • Accuracy of clinical diagnosis of idiopathic Parkinson's disease: A clinico-pathological study of 100 cases
    • Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992;55:181-184.
    • (1992) J Neurol Neurosurg Psychiatry , vol.55 , pp. 181-184
    • Hughes, A.J.1    Daniel, S.E.2    Kilford, L.3    Lees, A.J.4
  • 19
    • 0026629509 scopus 로고
    • What features improve the accuracy of clinical diagnosis in Parkinson's disease: A clinicopathologic study
    • Published erratum appears in Neurology 1992;42:1436
    • Hughes AJ, Ben-Shlomo Y, Daniel SE, Lees AJ. What features improve the accuracy of clinical diagnosis in Parkinson's disease: a clinicopathologic study. Neurology 1992;42:1142-1146. Published erratum appears in Neurology 1992;42:1436.
    • (1992) Neurology , vol.42 , pp. 1142-1146
    • Hughes, A.J.1    Ben-Shlomo, Y.2    Daniel, S.E.3    Lees, A.J.4
  • 20
    • 0019423856 scopus 로고
    • Sequence and organization of the human mitochondrial genome
    • Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290:457-465.
    • (1981) Nature , vol.290 , pp. 457-465
    • Anderson, S.1    Bankier, A.T.2    Barrell, B.G.3
  • 22
    • 0028854722 scopus 로고
    • Point mutations of mitochondrial genome in Parkinson's disease
    • Ikebe S, Tanaka M, Ozawa T. Point mutations of mitochondrial genome in Parkinson's disease. Mol Brain Res 1995;28: 281-295.
    • (1995) Mol Brain Res , vol.28 , pp. 281-295
    • Ikebe, S.1    Tanaka, M.2    Ozawa, T.3
  • 23
    • 0030931581 scopus 로고    scopus 로고
    • The "common deletion" is not increased in parkinsonian substantia nigra as shown by competitive polymerase chain reaction
    • Kosel S, Egensperger R, Schnopp NM, Graeber MB. The "common deletion" is not increased in parkinsonian substantia nigra as shown by competitive polymerase chain reaction. Mov Disord 1997;12:639-645.
    • (1997) Mov Disord , vol.12 , pp. 639-645
    • Kosel, S.1    Egensperger, R.2    Schnopp, N.M.3    Graeber, M.B.4
  • 24
    • 0030915207 scopus 로고    scopus 로고
    • Mitochondrial DNA polymorphisms in pathologically proven Parkinson's disease
    • Bandmann O, Sweeney MG, Daniel SE, Marsden CD, Wood NW. Mitochondrial DNA polymorphisms in pathologically proven Parkinson's disease. J Neurol 1997;244:262-265.
    • (1997) J Neurol , vol.244 , pp. 262-265
    • Bandmann, O.1    Sweeney, M.G.2    Daniel, S.E.3    Marsden, C.D.4    Wood, N.W.5
  • 25
    • 0026036025 scopus 로고
    • Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy
    • Johns DR, Berman J. Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 1991;174:1324-1330.
    • (1991) Biochem Biophys Res Commun , vol.174 , pp. 1324-1330
    • Johns, D.R.1    Berman, J.2
  • 26
    • 0026409821 scopus 로고
    • Normal variants of human mitochondrial DNA and translation products: The building of a reference data base
    • Marzuki S, Noer AS, Lertrit P, et al. Normal variants of human mitochondrial DNA and translation products: the building of a reference data base. Hum Genet 1991;88:139-145.
    • (1991) Hum Genet , vol.88 , pp. 139-145
    • Marzuki, S.1    Noer, A.S.2    Lertrit, P.3
  • 27
    • 0028095263 scopus 로고
    • mtDNA and the origin of Caucasians: Identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region
    • Torroni A, Lott MT, Cabell MF, Chen YS, Lavergne L, Wallace DC. mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am J Hum Genet 1994;55:760-776.
    • (1994) Am J Hum Genet , vol.55 , pp. 760-776
    • Torroni, A.1    Lott, M.T.2    Cabell, M.F.3    Chen, Y.S.4    Lavergne, L.5    Wallace, D.C.6
  • 28
    • 0342970503 scopus 로고    scopus 로고
    • Atlanta: Center for Molecular Medicine, Emory University
    • MITOMAP: human mitochondrial genome database. Atlanta: Center for Molecular Medicine, Emory University, 1998;http7/ www.gen.emory.edu/mitomap.html.
    • (1998) MITOMAP: Human Mitochondrial Genome Database
  • 30
    • 0028012491 scopus 로고
    • Corrections to the human mitochondrial ribosomal RNA sequences
    • Prezant TR, Agapian JV, Fischel-Ghodsian N. Corrections to the human mitochondrial ribosomal RNA sequences. Hum Genet 1994;93:87-88.
    • (1994) Hum Genet , vol.93 , pp. 87-88
    • Prezant, T.R.1    Agapian, J.V.2    Fischel-Ghodsian, N.3
  • 32
    • 0027200741 scopus 로고
    • Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients
    • Shoffher JM, Brown MD, Torroni A, et al. Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics 1993;17:171-184.
    • (1993) Genomics , vol.17 , pp. 171-184
    • Shoffher, J.M.1    Brown, M.D.2    Torroni, A.3
  • 33
    • 0031584966 scopus 로고    scopus 로고
    • Mitochondrial tRNA(Gln) and tRNA(Thr) gene variants in Parkinson's disease
    • Mayr-Wohlfart U, Rodel G, Henneberg A. Mitochondrial tRNA(Gln) and tRNA(Thr) gene variants in Parkinson's disease. Eur J Med Res 1997;2:111-113.
    • (1997) Eur J Med Res , vol.2 , pp. 111-113
    • Mayr-Wohlfart, U.1    Rodel, G.2    Henneberg, A.3
  • 34
    • 0025873789 scopus 로고
    • Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency
    • Yoon KL, Aprille JR, Ernst SG. Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency. Biochem Biophys Res Commun 1991;176:1112-1115.
    • (1991) Biochem Biophys Res Commun , vol.176 , pp. 1112-1115
    • Yoon, K.L.1    Aprille, J.R.2    Ernst, S.G.3
  • 35
    • 0029759665 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in multiple sclerosis patients with severe optic involvement
    • Mayr-Wohlfart U, Paulus C, Henneberg A, Rodel G. Mitochondrial DNA mutations in multiple sclerosis patients with severe optic involvement. Acta Neurol Scand 1996;94:167-171.
    • (1996) Acta Neurol Scand , vol.94 , pp. 167-171
    • Mayr-Wohlfart, U.1    Paulus, C.2    Henneberg, A.3    Rodel, G.4
  • 36
    • 0027104114 scopus 로고
    • The NADH. ubiquinone oxidoreductase complex I; of respiratory chains
    • Walker JE. The NADH. ubiquinone oxidoreductase (complex I; of respiratory chains. Q Rev Biophys 1992;25:253-324.
    • (1992) Q Rev Biophys , vol.25 , pp. 253-324
    • Walker, J.E.1
  • 38
    • 0027520465 scopus 로고
    • Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia
    • Cullom ME, Heher KL, Miller NR, Savino PJ, Johns DR. Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia. Arch Ophthalmol 1993;111:1482-1485.
    • (1993) Arch Ophthalmol , vol.111 , pp. 1482-1485
    • Cullom, M.E.1    Heher, K.L.2    Miller, N.R.3    Savino, P.J.4    Johns, D.R.5
  • 39
    • 0027226069 scopus 로고
    • Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
    • Prezant TR, Agapian JV, Bohlman MC, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993;4:289-294.
    • (1993) Nat Genet , vol.4 , pp. 289-294
    • Prezant, T.R.1    Agapian, J.V.2    Bohlman, M.C.3
  • 40
    • 16944363113 scopus 로고    scopus 로고
    • Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathv by increasing the penetrance of the primary mutations 11778 and 14484
    • Torroni A, Petrozzi M, D'Urbano L, et al. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathv by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 1997;60:1107-1121.
    • (1997) Am J Hum Genet , vol.60 , pp. 1107-1121
    • Torroni, A.1    Petrozzi, M.2    D'Urbano, L.3
  • 42
    • 0024306492 scopus 로고
    • Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy
    • Holt IJ, Miller DH, Harding AE. Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy. J Med Genet 1989;26:739-743.
    • (1989) J Med Genet , vol.26 , pp. 739-743
    • Holt, I.J.1    Miller, D.H.2    Harding, A.E.3
  • 44
    • 0032528968 scopus 로고    scopus 로고
    • Mutational scanning of mitochondrial DNA by two-dimensional electrophoresis
    • van Orsouw NJ, Zhang X, Wei JY, Johns DR, Vijg J. Mutational scanning of mitochondrial DNA by two-dimensional electrophoresis. Genomics 1998;52:27-36.
    • (1998) Genomics , vol.52 , pp. 27-36
    • Van Orsouw, N.J.1    Zhang, X.2    Wei, J.Y.3    Johns, D.R.4    Vijg, J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.