Respiratory chain and mitochondrial deoxyribonucleic acid in blood cells from patients with focal and generalized dystonia.
Identifieur interne : 004767 ( Ncbi/Checkpoint ); précédent : 004766; suivant : 004768Respiratory chain and mitochondrial deoxyribonucleic acid in blood cells from patients with focal and generalized dystonia.
Auteurs : H. Reichmann [Allemagne] ; M. Naumann ; S. Hauck ; B. JanetzkySource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1994.
English descriptors
- KwdEn :
- Adult, Aged, Blood Platelets (metabolism), Blotting, Southern, Chromosome Deletion, DNA, Mitochondrial (blood), DNA, Mitochondrial (genetics), Dystonia (genetics), Dystonia (physiopathology), Electron Transport (genetics), Electron Transport (physiology), Female, Humans, Male, Middle Aged, NAD(P)H Dehydrogenase (Quinone) (deficiency), Neurologic Examination, Torticollis (genetics), Torticollis (physiopathology).
- MESH :
- chemical , blood : DNA, Mitochondrial.
- chemical , deficiency : NAD(P)H Dehydrogenase (Quinone).
- chemical , genetics : DNA, Mitochondrial.
- genetics : Dystonia, Electron Transport, Torticollis.
- metabolism : Blood Platelets.
- physiology : Electron Transport.
- physiopathology : Dystonia, Torticollis.
- Adult, Aged, Blotting, Southern, Chromosome Deletion, Female, Humans, Male, Middle Aged, Neurologic Examination.
Abstract
An increasing number of neurodegenerative diseases seem to be associated with or even due to disturbances of cerebral energy metabolism. One generally accepted example is complex I deficiency in substantia nigra from patients with Parkinson's disease. Reports on a complex I defect in platelets from patients with dystonia led us to check for disturbances of the respiratory chain or of the mitochondrial genome in isolated mitochondria from patients with focal or generalized dystonia. We could not confirm the idea of mitochondrial disturbance in platelets from patients with dystonia because we did not find abnormal enzyme activities or any deletions of the mitochondrial genome. Thus, we do not think that blood cells such as platelets can serve as markers for neurodegenerative disorders such as dystonia.
DOI: 10.1002/mds.870090603
PubMed: 7845398
Affiliations:
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pubmed:7845398Le document en format XML
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<author><name sortKey="Reichmann, H" sort="Reichmann, H" uniqKey="Reichmann H" first="H" last="Reichmann">H. Reichmann</name>
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<wicri:noRegion>University of Würzburg</wicri:noRegion>
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<author><name sortKey="Hauck, S" sort="Hauck, S" uniqKey="Hauck S" first="S" last="Hauck">S. Hauck</name>
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<author><name sortKey="Janetzky, B" sort="Janetzky, B" uniqKey="Janetzky B" first="B" last="Janetzky">B. Janetzky</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Chromosome Deletion</term>
<term>DNA, Mitochondrial (blood)</term>
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<term>Dystonia (genetics)</term>
<term>Dystonia (physiopathology)</term>
<term>Electron Transport (genetics)</term>
<term>Electron Transport (physiology)</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>NAD(P)H Dehydrogenase (Quinone) (deficiency)</term>
<term>Neurologic Examination</term>
<term>Torticollis (genetics)</term>
<term>Torticollis (physiopathology)</term>
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<term>Torticollis</term>
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<term>Torticollis</term>
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<term>Aged</term>
<term>Blotting, Southern</term>
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<front><div type="abstract" xml:lang="en">An increasing number of neurodegenerative diseases seem to be associated with or even due to disturbances of cerebral energy metabolism. One generally accepted example is complex I deficiency in substantia nigra from patients with Parkinson's disease. Reports on a complex I defect in platelets from patients with dystonia led us to check for disturbances of the respiratory chain or of the mitochondrial genome in isolated mitochondria from patients with focal or generalized dystonia. We could not confirm the idea of mitochondrial disturbance in platelets from patients with dystonia because we did not find abnormal enzyme activities or any deletions of the mitochondrial genome. Thus, we do not think that blood cells such as platelets can serve as markers for neurodegenerative disorders such as dystonia.</div>
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<name sortKey="Janetzky, B" sort="Janetzky, B" uniqKey="Janetzky B" first="B" last="Janetzky">B. Janetzky</name>
<name sortKey="Naumann, M" sort="Naumann, M" uniqKey="Naumann M" first="M" last="Naumann">M. Naumann</name>
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<country name="Allemagne"><noRegion><name sortKey="Reichmann, H" sort="Reichmann, H" uniqKey="Reichmann H" first="H" last="Reichmann">H. Reichmann</name>
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