The 'common deletion' is not increased in parkinsonian substantia nigra as shown by competitive polymerase chain reaction.
Identifieur interne : 004D70 ( Ncbi/Curation ); précédent : 004D69; suivant : 004D71The 'common deletion' is not increased in parkinsonian substantia nigra as shown by competitive polymerase chain reaction.
Auteurs : S. Kösel [Allemagne] ; R. Egensperger ; N M Schnopp ; M B GraeberSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1997.
English descriptors
- KwdEn :
- Aged, Aged, 80 and over, Case-Control Studies, Cytochrome P-450 CYP2D6 (genetics), DNA, Mitochondrial (chemistry), DNA, Mitochondrial (genetics), Disease Susceptibility, Female, Gene Deletion, Genotype, Humans, Linear Models, Male, Middle Aged, NAD(P)H Dehydrogenase (Quinone) (deficiency), NAD(P)H Dehydrogenase (Quinone) (genetics), Parkinson Disease (genetics), Point Mutation, Polymerase Chain Reaction, Substantia Nigra (chemistry), Substantia Nigra (pathology).
- MESH :
- chemical , chemistry : DNA, Mitochondrial.
- chemical , deficiency : NAD(P)H Dehydrogenase (Quinone).
- chemical , genetics : Cytochrome P-450 CYP2D6, DNA, Mitochondrial, NAD(P)H Dehydrogenase (Quinone).
- chemistry : Substantia Nigra.
- genetics : Parkinson Disease.
- pathology : Substantia Nigra.
- Aged, Aged, 80 and over, Case-Control Studies, Disease Susceptibility, Female, Gene Deletion, Genotype, Humans, Linear Models, Male, Middle Aged, Point Mutation, Polymerase Chain Reaction.
Abstract
Previous studies have estimated levels of mitochondrial DNA (mtDNA) carrying the 4,977-base-pair 'common deletion' in tissues from patients with Parkinson's disease (PD) by using semiquantitative techniques. The role of this deleted mtDNA species in the pathogenesis of PD has remained controversial. We have applied competitive polymerase chain reaction to achieve exact quantitation of deleted mtDNA in the substantia nigra and additional brain regions of cases with neuropathologically confirmed Lewy-body parkinsonism. In addition, genotyping was carried out for CYP2D6G1,934A and CYP2D6C2,938T alleles and the mitochondrial ND2 (nucleotide 5,460) and transfer RNA for glutamine (nucleotide 4,336) sequence variants. Parkinsonian brains showed 1-3% deleted mtDNA in the substantia nigra, that is, deletion levels were not higher than in age-matched controls. Our findings suggest that the defect in complex I of the respiratory chain observed in PD is not primarily due to the 'common deletion.'
DOI: 10.1002/mds.870120504
PubMed: 9380043
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pubmed:9380043Le document en format XML
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Case-Control Studies</term>
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<term>DNA, Mitochondrial (chemistry)</term>
<term>DNA, Mitochondrial (genetics)</term>
<term>Disease Susceptibility</term>
<term>Female</term>
<term>Gene Deletion</term>
<term>Genotype</term>
<term>Humans</term>
<term>Linear Models</term>
<term>Male</term>
<term>Middle Aged</term>
<term>NAD(P)H Dehydrogenase (Quinone) (deficiency)</term>
<term>NAD(P)H Dehydrogenase (Quinone) (genetics)</term>
<term>Parkinson Disease (genetics)</term>
<term>Point Mutation</term>
<term>Polymerase Chain Reaction</term>
<term>Substantia Nigra (chemistry)</term>
<term>Substantia Nigra (pathology)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cytochrome P-450 CYP2D6</term>
<term>DNA, Mitochondrial</term>
<term>NAD(P)H Dehydrogenase (Quinone)</term>
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<term>Case-Control Studies</term>
<term>Disease Susceptibility</term>
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<term>Gene Deletion</term>
<term>Genotype</term>
<term>Humans</term>
<term>Linear Models</term>
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<front><div type="abstract" xml:lang="en">Previous studies have estimated levels of mitochondrial DNA (mtDNA) carrying the 4,977-base-pair 'common deletion' in tissues from patients with Parkinson's disease (PD) by using semiquantitative techniques. The role of this deleted mtDNA species in the pathogenesis of PD has remained controversial. We have applied competitive polymerase chain reaction to achieve exact quantitation of deleted mtDNA in the substantia nigra and additional brain regions of cases with neuropathologically confirmed Lewy-body parkinsonism. In addition, genotyping was carried out for CYP2D6G1,934A and CYP2D6C2,938T alleles and the mitochondrial ND2 (nucleotide 5,460) and transfer RNA for glutamine (nucleotide 4,336) sequence variants. Parkinsonian brains showed 1-3% deleted mtDNA in the substantia nigra, that is, deletion levels were not higher than in age-matched controls. Our findings suggest that the defect in complex I of the respiratory chain observed in PD is not primarily due to the 'common deletion.'</div>
</front>
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