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Titolo:
MITOCHONDRIAL NADH DEHYDROGENASE AND CYP2D6 GENOTYPES IN LEWY-BODY PARKINSONISM
Autore:
KOSEL S; LUCKING CB; EGENSPERGER R; MEHRAEIN P; GRAEBER MB;
Indirizzi:
UNIV MUNICH,INST NEUROPATHOL,MOL NEUROPATHOL LAB,THALKIRCHNER STR 36 D-80337 MUNICH GERMANY UNIV MUNICH,INST NEUROPATHOL,MOL NEUROPATHOL LAB D-80337 MUNICH GERMANY UNIV MUNICH,INST NEUROPATHOL,REFERENCE CTR NEURODEGENERAT DISORDERS D-80337 MUNICH GERMANY
Titolo Testata:
Journal of neuroscience research
fascicolo: 2, volume: 44, anno: 1996,
pagine: 174 - 183
SICI:
0360-4012(1996)44:2<174:MNDACG>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
COMPLEX-I DEFICIENCY; CLINICAL-DIAGNOSIS; DISEASE PATIENTS; POINT MUTATIONS; DNA; DEBRISOQUINE; ALZHEIMERS; SUBUNITS; ACCURACY; GENES;
Keywords:
COMPLEX I; DEBRISOQUINE 4-HYDROXYLASE; GENETIC HETEROGENEITY; MITOCHONDRIAL HETEROPLASMY; NEURODEGENERATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
55
Recensione:
Indirizzi per estratti:
Citazione:
S. Kosel et al., "MITOCHONDRIAL NADH DEHYDROGENASE AND CYP2D6 GENOTYPES IN LEWY-BODY PARKINSONISM", Journal of neuroscience research, 44(2), 1996, pp. 174-183

Abstract

The cause of nerve-cell death in sporadic Parkinson's disease remainsunknown, Although environmental factors have been traditionally implicated in the etiology of Parkinson's disease, recent studies strongly suggest that there is a genetic contribution to this multifactorial disorder, We studied archival brain tissue from clinically and neuropathologically verified cases of Parkinson's disease, using nonradioactivecycle sequencing and restriction enzymatic analysis of polymerase chain reaction products, Twenty-one Parkinsonian brains with brain stem Lewy-bodies and 77 control brains were genotyped at two mitochondrial loci previously implicated in the etiology of neurodegenerative disease. In addition, genotyping was performed for two alleles of the debrisoquine 4-hydroxylase gene (CYP2D6), A heteroplasmic mtDNA(G5460A) missense mutation in the ND2 subunit gene of NADH dehydrogenase was three times more frequent in Parkinson cases (4/21) compared to controls (5/77), A homoplasmic mtDNA(A4336G) transition which alters the mitochondrial tRNA(Gln) gene product was found in one Parkinson case, Frequencies of the CYP2D6(G1934A) and CYP2D6(C2938T) alleles were not significantly different between Parkinson cases and controls, Two Parkinsonian brains with high degrees of heteroplasmy for the ND2(G5460A) mutation and one CYP2D6(C2938T) homozygous case showed very high numbers of Lewy-bodies in the substantia nigra, The results of this study are in linewith the concept that different genetic loci may be involved in Parkinson's disease susceptibility, They provide a hint that the ND2(5460) mutation, in combination with other factors, could play a role in disease pathogenesis in a subset of patients. (C) 1996 Wiley-Liss, Inc.

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Documento generato il 03/04/20 alle ore 04:24:32