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Increased superoxide dismutase and Down's syndrome.

J F Turrens1

  • 1Department of Biomedical Sciences, University of South Alabama, Mobile, AL 36688, USA. jturrens@usamail.usouthal.edu

Medical Hypotheses
|June 12, 2001
PubMed
Summary

Increased superoxide dismutase (SOD) activity in Down syndrome is unlikely to cause neurological issues. Instead, other chromosome 21 gene overexpressions may be responsible, while SOD may explain the higher incidence in children of older mothers.

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Area of Science:

  • Genetics
  • Biochemistry
  • Developmental Biology

Background:

  • Superoxide dismutase (SOD) is encoded by a gene on Chromosome 21.
  • Individuals with Down syndrome (trisomy 21) exhibit a 50% increase in SOD activity.
  • The role of elevated SOD in Down syndrome pathogenesis is debated.

Purpose of the Study:

  • To evaluate the hypothesis that increased SOD activity contributes to neurological symptoms in Down syndrome.
  • To propose alternative genetic explanations for Down syndrome's neurological manifestations.
  • To investigate the potential role of increased SOD in the maternal age effect on Down syndrome incidence.

Main Methods:

  • Literature review and critical analysis of existing data on SOD activity and Down syndrome.
  • Hypothesis generation based on genetic and cellular mechanisms.

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Main Results:

  • Current evidence does not strongly support SOD overactivity as the cause of neurological symptoms in Down syndrome.
  • Overexpression of other Chromosome 21 genes, such as beta-amyloid precursor and oncogenes, is proposed as a more likely cause of neurological issues.
  • Elevated SOD may confer a survival advantage to oocytes in older women, potentially increasing the risk of trisomy 21.

Conclusions:

  • Increased SOD activity is unlikely to be the primary driver of neurological deficits in Down syndrome.
  • Other gene dosage effects on Chromosome 21 are more plausible explanations for the observed neurological phenotypes.
  • The antioxidant properties of SOD may play a role in the increased incidence of Down syndrome associated with advanced maternal age by protecting oocytes from apoptosis.