Open AccessOn the mechanism of mental deficiency in chromosomal diseases
Author(s) -
LEJEUNE JÉROME
Publication year - 1977
Publication title -
hereditas
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.819
H-Index - 50
eISSN - 1601-5223
pISSN - 0018-0661
DOI - 10.1111/j.1601-5223.1977.tb01207.x
Subject(s) - biology , gene , mechanism (biology) , mediator , genetics , cholinergic , superoxide dismutase , microbiology and biotechnology , neuroscience , enzyme , biochemistry , philosophy , epistemology
Three ways are used to study the relations between mental deficiency and chromosomal diseases.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 responsible 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.