[Chromosomal anomalies and intelligence deficiency (author's transl)].
The relations between chromosomal diseases and mental retardation can be envisaged in three different ways: 1) Pharmacological approach shows a peculiar sensitivity of the cholinergic system in trisomic 21 children. A trouble in the manufacture of cholinergic mediator is plausible. 2) General biochemistry shows a slight shift of the glycolytic pathway in trisomics 21 as well as some localised abnormalities of amino-acids. 3) Gene mapping allows the localisation of the main responsable genes on band q22. 1 and among them the gene coding for superoxide dismutase 1. Also glutathion peroxidase is elevated. These disparate facts are discussed in the light of a model of the machinery regulating the production of chemical mediators. Comparison with other diseases lead to the hypothesis that rather simple and localised mechanisms could be specially important.
D002869:Chromosome Aberrations / Q000378:metabolism*; D025063:Chromosome Disorders; D002904:Chromosomes, Human, 21-22 and Y; D002906:Chromosomes, Human, 6-12 and X; D004314:Down Syndrome / Q000201:enzymology / Q000235:genetics*; D005979:Glutathione Peroxidase / Q000097:blood; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D013482:Superoxide Dismutase / Q000097:blood
D005979:Glutathione Peroxidase; D013482:Superoxide Dismutase
Anomalies chromosomiques et débilité de l'intelligence.