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Mitochondrial enzyme deficiencies in Down's syndrome

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Journal of Neural Transmission - Parkinson's Disease and Dementia Section

Summary

Defects in cytochrome oxidase (CO; complex 4) have recently been demonstrated in blood platelets and in brain tissue from patients with Alzheimer's disease (AD) with possible etiological implications. Because of pathogenetic similarities with AD, we have measured the activities of several mitochondrially localised enzymes in the blood platelets of individuals afflicted with trisomy-21 (Down's syndrome). The activities of monoamine oxidase, cytochrome oxidase, isocitrate dehydrogenase, and glutamate dehydrogenase were assayed in washed platelets from sixty caucasian, male and female control individuals (ages 18–60) and ten, young Down's Syndrome patients (ages 9–21). Significant reductions in the activities of monoamine oxidase, cytochrome oxidase, and isocitrate dehydrogenase were found. In all cases the average activities in Down's syndrome individuals were approximately two-thirds those of controls (DS/Controls=0.68, 0.67, 0.64 respectively). The activity of the fourth enzyme studied, glutamate dehydrogenase, was found to be similar to controls. Results suggest that these reductions are a consequence of a generalised mitochondrial disturbance which may lie behind some pathogenetic aspect(s) of the disease.

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Author notes

  1. L. Oreland M.D.

    Present address: Department of Medical Pharmacology, University of Uppsala, Biomedical Centre, Box 593, S-751 24, Uppsala, Sweden

Authors and Affiliations

  1. Department of Clinical Genetics, University of Uppsala, Uppsala, Sweden

    G. Annerén

  2. Department of Medical Pharmacology, University of Uppsala, Biomedical Centre, Box 593, S-751 24, Uppsala, Sweden

    J. Prince, S. Jia & U. Båve

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  1. J. Prince
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  2. S. Jia
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  3. U. Båve
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  4. G. Annerén
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  5. L. Oreland M.D.
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Prince, J., Jia, S., Båve, U. et al. Mitochondrial enzyme deficiencies in Down's syndrome. J Neural Transm Gen Sect 8, 171–181 (1994). https://doi.org/10.1007/BF02260938

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  • DOI: https://doi.org/10.1007/BF02260938

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