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Related Experiment Videos

Mitochondrial enzyme deficiencies in Down's syndrome

J Prince1, S Jia, U Båve

  • 1Department of Medical Pharmacology, University of Uppsala, Sweden.

Journal of Neural Transmission. Parkinson'S Disease and Dementia Section
|January 1, 1994
PubMed
Summary

Mitochondrial enzyme activity is reduced in Down's syndrome platelets, suggesting a generalized mitochondrial disturbance. This finding may offer insights into the pathogenesis of Down's syndrome, similar to Alzheimer's disease.

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Defects in cytochrome oxidase (complex 4) are implicated in Alzheimer's disease (AD) pathogenesis.
  • Down's syndrome shares pathogenetic similarities with AD, prompting investigation into mitochondrial function.

Purpose of the Study:

  • To investigate mitochondrial enzyme activities in blood platelets of individuals with Down's syndrome.
  • To explore potential generalized mitochondrial disturbances in Down's syndrome.

Main Methods:

  • Assayed activities of monoamine oxidase, cytochrome oxidase, isocitrate dehydrogenase, and glutamate dehydrogenase.
  • Utilized washed platelets from 60 controls and 10 young Down's syndrome patients.

Main Results:

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  • Significant reductions observed in monoamine oxidase, cytochrome oxidase, and isocitrate dehydrogenase activities in Down's syndrome platelets (approx. 2/3 of controls).
  • Glutamate dehydrogenase activity remained similar to controls.
  • These reductions suggest a generalized mitochondrial disturbance.

    • Conclusions:

    • The findings indicate a potential role for mitochondrial dysfunction in the pathogenetic aspects of Down's syndrome.
    • Reduced enzyme activities may serve as biomarkers for mitochondrial disturbances in Down's syndrome.