OVEREXPRESSION OF COPPER-ZINC SUPEROXIDE-DISMUTASE IN TRISOMY-21

Citation
R. Delatorre et al., OVEREXPRESSION OF COPPER-ZINC SUPEROXIDE-DISMUTASE IN TRISOMY-21, Experientia, 52(9), 1996, pp. 871-873
Citations number
20
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Multidisciplinary Sciences
Journal title
ISSN journal
0014-4754
Volume
52
Issue
9
Year of publication
1996
Pages
871 - 873
Database
ISI
SICI code
0014-4754(1996)52:9<871:OOCSIT>2.0.ZU;2-D
Abstract
Down's syndrome (DS), the most frequent of congenital birth defects, r esults from the trisomy of chromosome 21 in all cells of affected pati ents. This disease is characterized by developmental anomalies, mental retardation and features of rapid aging, particularly in the brain, w here the occurrence of Alzheimer's disease is observed in trisomy 21 p atients over the age of 35. Copper-zinc superoxide dismutase (CuZnSOD) is one of the proteins encoded by chromosome 21 (21q22.1). As a conse quence of gene dosage excess, CuZnSOD activity is increased by 50% in all DS tissues. This work reports the SOD activity of a population of DS patients with complete trisomy 21, partial trisomy 21, translocatio ns and mosaicism, in order to confirm the gene dosage effect of SOD on the clinical features of DS, and to help to establish which is the cr itical region of chromosome 21 in DS. CuZnSOD was measured in red bloo d cells using the Minami and Yoshikawa method. In the population with complete trisomy 21, SOD activity was increased by 42%; in the populat ion with partial trisomy 21, translocations and mosaicism, SOD activit y was normal. In the population diagnosed as DS, but not karyotyped, S OD activity was increased by 28%. No differences between sexes or amon g ages were found. We conclude that the 21q22.1 segment is not the cri tical region responsible for DS, as we have found normal SOD activity in patients with the clinical features of DS.