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对埃及唐氏综合征患儿超氧化物歧化酶和谷胱甘肽过氧化物酶及其辅助因子的评估。

Evaluation of superoxide dismutase and glutathione peroxidase enzymes and their cofactors in Egyptian children with Down's syndrome.

作者信息

Meguid N A, Kholoussi N M, Afifi H H

机构信息

Department of Human Genetics, National Research Centre, Cairo, Egypt.

出版信息

Biol Trace Elem Res. 2001 Jul;81(1):21-8. doi: 10.1385/BTER:81:1:21.

Abstract

The present work investigated the activity of Cu/Zn superoxide dismutase enzyme (SOD) in red blood cells and glutathione peroxidase enzyme (GPx) in whole blood by spectrophotometric methods. Plasma levels of the cofactors copper and zinc and whole-blood selenium were evaluated using atomic absorption spectrophotometer. The study included a population of 18 Down's syndrome (DS) patients with complete trisomy 21 (group 1), translocations (group 2), and mosaicism (group 3), and their 15 matched controls. The purpose of this work was to study the gene dosage effect of SOD and its consequence on GPx enzyme and the various cofactors, and to find out correlations with developmental fields. Our results showed that in the population with complete trisomy 21 and translocations, SOD and GPx activities were increased, whereas in cases with mosaicism, the enzymes activities were within normal limits. Plasma copper concentrations were increased, whereas whole-blood selenium concentrations were significantly decreased in the three DS groups. Plasma zinc levels were within normal in all patients. We concluded that changes in trace elements and enzyme activities were not related to age or sex. Also, there was no correlation between the enzyme levels and the developmental activities. Our results are useful tools for identifying nutritional status and guiding antioxidant intervention.

摘要

本研究采用分光光度法检测了红细胞中铜/锌超氧化物歧化酶(SOD)的活性以及全血中谷胱甘肽过氧化物酶(GPx)的活性。使用原子吸收分光光度计评估了血浆中铜和锌这两种辅助因子的水平以及全血中硒的水平。该研究纳入了18名唐氏综合征(DS)患者,其中1组为21号染色体完全三体,2组为易位型,3组为嵌合型,以及15名与之匹配的对照者。本研究的目的是研究SOD的基因剂量效应及其对GPx酶和各种辅助因子的影响,并找出与发育领域的相关性。我们的结果显示,在21号染色体完全三体和易位型人群中,SOD和GPx的活性增加,而在嵌合型病例中,酶活性在正常范围内。在三个唐氏综合征组中,血浆铜浓度升高,而全血硒浓度显著降低。所有患者的血浆锌水平均在正常范围内。我们得出结论,微量元素和酶活性的变化与年龄或性别无关。此外,酶水平与发育活动之间没有相关性。我们的研究结果是识别营养状况和指导抗氧化干预的有用工具。

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