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首页> 外文期刊>Neurochemistry International: The International Journal for the Rapid Publication of Critical Reviews, Preliminary and Original Research Communications in Neurochemistry >Expression of cystathionine beta-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain.
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Expression of cystathionine beta-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain.

机译：胎儿唐氏综合征脑中胱硫醚β-合酶，吡x醛激酶和ES1蛋白同源物（线粒体前体）的表达。

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摘要

Down syndrome (DS) is the most common human chromosomal abnormality caused by an extra copy of chromosome 21 and characterized by somatic anomalies and mental retardation. The phenotype of DS is thought to result from overexpression of genes encoded on chromosome 21. Although several studies reported mRNA levels of genes localized on chromosome 21, mRNA data cannot be simply extrapolated to protein levels. Furthermore, most protein data have been generated using immunochemical methods. In this study we investigated expression of three proteins (cystathionine beta-synthase (CBS), pyridoxal kinase (PDXK), ES1 protein homolog, mitochondrial precursor (ES1)) whose genes are encoded on chromosome 21 in fetal DS (n = 8; mean gestational age of 19.8 +/- 2.0 weeks) and controls (n = 7; mean gestational age of 18.8 +/- 2.2 weeks) brains (cortex) using proteomic technologies. Two-dimensional electrophoresis (2-DE) with subsequent in-gel digestion of spots and matrix-assisted laser desorption ionization (MALDI) spectroscopic identification followed by quantification of spots with specific software was applied. Subsequent quantitative analysis of CBS and PDXK revealed levels comparable between DS and controls. By contrast, ES1 was two-fold elevated (P < 0.01) in fetal DS brain. This protein shows significant homology with the E. coli SCRP-27A/ELBB and zebrafish ES1 protein and contains a potential targeting sequence to mitochondria in its N-terminal region. Based on the assumption that structural similarities reflect functional relationship, it may be speculated that ES1 is serving a basic function in mitochondria. Although no function of the human ES1 protein is known yet, ES1 may be a candidate protein involved in the pathogenesis of the brain deficit in DS.
机译：唐氏综合症（DS）是最常见的人类染色体异常，由21号染色体的额外复制引起，其特征是体细胞异常和智力低下。据认为，DS的表型是由21号染色体上编码的基因的过表达引起的。尽管一些研究报告了位于21号染色体上的基因的mRNA水平，但不能简单地将mRNA数据外推至蛋白质水平。此外，大多数蛋白质数据已使用免疫化学方法生成。在这项研究中，我们调查了三种蛋白质的表达（胱硫醚β合酶（CBS），吡pyr醛激酶（PDXK），ES1蛋白同源物，线粒体前体（ES1）），其基因编码在胎儿DS的21号染色体上（n = 8;均值）使用蛋白质组学技术的人（皮质）的胎龄为19.8 +/- 2.0周）和对照组（n = 7;平均胎龄为18.8 +/- 2.2周）。应用二维电泳（2-DE），随后进行斑点的凝胶内消化和基质辅助激光解吸电离（MALDI）光谱鉴定，然后使用特定软件对斑点进行定量。随后对CBS和PDXK的定量分析显示，DS和对照之间的水平相当。相比之下，胎儿DS脑中ES1升高了两倍（P <0.01）。该蛋白与大肠杆菌SCRP-27A / ELBB和斑马鱼ES1蛋白显示出显着的同源性，并且在其N端区域含有潜在的针对线粒体的靶向序列。基于结构相似性反映功能关系的假设，可以推测ES1在线粒体中起着基本功能。尽管尚不清楚人类ES1蛋白的功能，但ES1可能是参与DS中脑缺损的发病机理的候选蛋白。

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