Mitochondrial DNA analysis in Parkinson's disease

Authors

  • Dr. A. H. V. Schapira,

    Corresponding author
    1. Department of Neurological Science, Royal Free Hospital School of Medicine, Pharmacology Group, Biomedical Science Division, King's College Hospital, London, England
    2. University Department of Clinical Neurology, Institute of Neurology, Pharmacology Group, Biomedical Science Division, King's College Hospital, London, England
    • Department of Neurological Science, Royal Free Hospital School of Medicine, Rowland Hill Street, London NW3 2PF, UK
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  • I. J. Holt,

    1. University Department of Clinical Neurology, Institute of Neurology, Pharmacology Group, Biomedical Science Division, King's College Hospital, London, England
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  • M. Sweeney,

    1. University Department of Clinical Neurology, Institute of Neurology, Pharmacology Group, Biomedical Science Division, King's College Hospital, London, England
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  • A. E. Harding,

    1. University Department of Clinical Neurology, Institute of Neurology, Pharmacology Group, Biomedical Science Division, King's College Hospital, London, England
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  • P. Jenner,

    1. Parkinson's Disease Society Experimental Research Laboratories, Pharmacology Group, Biomedical Science Division, King's College Hospital, London, England
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  • C. D. Marsden

    1. University Department of Clinical Neurology, Institute of Neurology, Pharmacology Group, Biomedical Science Division, King's College Hospital, London, England
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Abstract

The reduced form of nicotinamide adenine dinucleotide coenzyme Q reductase (complex I) activity has recently been shown to be deficient in the substantia nigra of patients dying with Parkinson's disease. This biochemical defect is identical to that produced by the neurotoxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), which also produces parkinsonism in humans. Complex I comprises 25 polypeptides, seven of which are encoded by mitochondrial DNA. Restriction fragment analysis of substantia nigra DNA from six patients with Parkinson's disease did not show any major deletion. In two cases, there were different novel polymorphisms that were not observed in control brain (n = 6) or blood (n = 34) samples.

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