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Related Experiment Videos

[Amino acids and trisomy 21].

J Lejeune1, M O Rethoré, M C de Blois

  • 1Chaire de Génétique Fondamentale, Hôpital des Enfants Malades, Paris, France.

Annales De Genetique
|January 1, 1992
PubMed
Summary

This study found distinct amino acid imbalances in individuals with Down syndrome (trisomy 21), including plasma serine deficit and urinary excesses of cysteine and methionine. Nutritional interventions may help address these metabolic shifts.

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Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Context:

  • Investigating biochemical differences in individuals with trisomy 21 (Down syndrome).
  • Comparing amino acid profiles in trisomic-21 patients, non-trisomic mentally retarded patients, and controls.
  • Analyzing plasmatic and urinary amino acid concentrations.

Purpose:

  • To identify specific amino acid abnormalities in trisomy 21.
  • To determine if these abnormalities are characteristic of Down syndrome.
  • To explore potential metabolic pathways and therapeutic interventions.

Summary:

  • No primary amino acidopathy was identified in trisomy 21.
  • Significant findings include a plasma serine deficit and excesses of cysteine and lysine in trisomic-21 patients.

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  • Urinary analysis revealed typical excesses of cysteine, methionine, tyrosine, and methyl-histidine.

    • Impact:

    • The observed amino acid shifts align with increased superoxide-dismutase and purine synthesis enzyme activity.
    • Findings suggest a potential link between amino acid metabolism and sensitivity to certain drugs and conditions.
    • Highlights the need for further research into nutritional compensation strategies for Down syndrome.