Cystathionine β-synthase is enriched in the brains of Down's patients
Cystathionine β-synthase is enriched in the brains of Down's patients
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DOI：
10.1016/j.bbrc.2005.10.118
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发表时间：
2005-12-23
影响因子：
3.1
通讯作者：
Kimura, H
中科院分区：
文献类型：
--
作者：
Ichinohe, A;Kanaumi, T;Kimura, H
唐氏综合征(DS)或21三体是导致智力低下的最常见的遗传原因，患有唐氏综合征的成年人会患上阿尔茨海默病(AD)。胱硫醚-β-合成酶(CBS)编码21号石油染色体，其活性缺失可导致同型半胱氨酸尿症，是硫代氨基酸代谢中最常见的先天错误，以智力低下和血管疾病为特征。在这里，我们展示了DS大脑中CBS的水平大约是正常人的三倍。在阿尔茨海默病患者脑组织中，CBS定位于星形胶质细胞和老年斑周围。CBS的过度表达可能导致DS儿童的认知发育异常，并可能导致DS成人的AD。(C)2005 Elsevier Inc.保留所有权利。
Down's syndrome (DS) or trisomy 21 is the most common genetic cause of mental retardation, and adults with DS develop Alzheimer type of disease (AD). Cystathionine beta-synthase (CBS) is encoded oil chromosome 21 and deficiency in its activity causes homocystinuria, the most common inborn error of sulfur amino acid metabolism and characterized by mental retardation and vascular disease. Here, we show that the levels of CBS in DS brains are approximately three times greater than those in the normal individuals. CBS is localized to astrocytes and those surrounding senile plaques in the brains of DS patients with AD. The over-expression of CBS may cause the developmental abnormality in cognition in DS children and that may lead to AD in DS adults. (c) 2005 Elsevier Inc. All rights reserved.