Neutrophil Oxidative Metabolism in Down Syndrome Patients With Congenital Heart Defects
Neutrophil Oxidative Metabolism in Down Syndrome Patients With Congenital Heart Defects
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DOI：
10.1002/em.20511
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发表时间：
2010-01-01
影响因子：
2.8
通讯作者：
Aslan, Mutay
中科院分区：
文献类型：
--
作者：
Akinci, Ozlem;Mihci, Ercan;Aslan, Mutay
唐氏综合征（DS）发生在一个人有三个，而不是两个，第21号染色体的副本。细胞溶质超氧化物歧化酶（SOD-1）由21号染色体上的基因编码，因此，DS患者的SOD-1活性升高。所有DS病例中有40%与先天性心脏病（CHD）有关。虽然SOD 1对疾病表型的贡献尚不清楚，但它被认为是疾病的“分子标记”。本文假设CHD的存在可能改变DS患者中SOD 1的表达和氧化代谢。通过以下四个实验组来检验这一假设：DS无CHD患者、DS伴CHD患者、CHD无DS患者和对照组。超氧化物歧化酶（SOD），谷胱甘肽过氧化物酶（GPx），髓过氧化物酶（MPO），和过氧化氢酶（CAT）的表达和活性测定从所有实验组的中性粒细胞。还在中性粒细胞中评价了细胞内过氧化氢浓度和超氧化物释放。DS合并冠心病组与非冠心病组SOD、GPx含量及活性均显著升高。各实验组间MPO和CAT的含量和活性无显著性差异。细胞内过氧化氢浓度在所有组中是相似的，而一个显着的减少被认为是在超氧化物释放的情况下与DS。DS合并和不合并CHD的患者在任何测量参数上均无显著差异。这些数据表明，在DS患者中观察到的CHD并不是由与疾病相关的氧化还原代谢改变引起的。Environ.突变体51：57-63，2010. (C)2009 Wiley-Liss，Inc.
Down syndrome (DS) occurs when an individual has three, rather than two, copies of the 21st chromosome. Cytosolic superoxide dismutase (SOD-1) is encoded by a gene on chromosome 21 and thus, SOD-1 activity is elevated in patients with DS. Forty percent of all cases with DS are associated with congenital heart defects (CHD). Although the contribution of SOD1 to disease phenotype is unknown, it is considered to be a "molecular marker" of the disease. It was hypothesized herein that the presence of CHD may alter the expression of SOD1 and oxidative metabolism in patients with DS. This hypothesis was tested via four experimental groups as follows: patients with DS without CHD, DS patients with CHD, CHD patients without DS and controls. Expression and activity of superoxide dismutase (SOD), glutathione peroxidase (GPx), myeloperoxidase (MPO), and catalase (CAT) were determined in neutrophils from all experimental groups. Intracellular hydrogen peroxide concentration and superoxide release were also evaluated in neutrophils. A significant increase was observed in SOD and GPx amount and activity in patients with DS with and without CHD. No significant difference was found in the amount and activity of MPO and CAT among the different experimental groups. Intracellular hydrogen peroxide concentration was similar in all groups, whereas a prominent decrease was seen in superoxide release in cases with DS. Patients with DS with and without CHD showed no significant differences in any of the measured parameters. The data suggest that CHD observed in patients with DS does not result from altered redox metabolism associated with the disease. Environ. Mal. Mutagen. 51:57-63, 2010. (C) 2009 Wiley-Liss, Inc.