Cystathionine β-synthase is enriched in the brains of Down's patients

被引：105

作者：

Ichinohe, A

Kanaumi, T

Takashima, S

Enokido, Y

Nagai, Y

Kimura, H

机构：

[1] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Kodaira, Tokyo 1878551, Japan

[2] Fukuoka Univ, Sch Med, Dept Pediat & Pathol, Fukuoka, Japan

[3] Tohoku Univ, Sch Med, Dept Pediat, Aoba Ku, Sendai, Miyagi 9808574, Japan

[4] Int Univ Hlth & Welf, Yanagawa Inst Dev Disabilities, Fukuoka, Japan

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 2005年 / 338卷 / 03期

关键词：

cystathionine beta-synthase; Down's syndrome; Alzheimer; astrocytes; H(2)S; chromosome; 21;

D O I：

10.1016/j.bbrc.2005.10.118

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：1547 / 1550

页数：4

共 18 条

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