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尿素循环与阿尔茨海默病有关吗?

Is the urea cycle involved in Alzheimer's disease?

机构信息

INSERM U744, Lille, France.

出版信息

J Alzheimers Dis. 2010;21(3):1013-21. doi: 10.3233/JAD-2010-100630.

Abstract

Since previous observations indicated that the urea cycle may have a role in the Alzheimer's disease (AD) process, we set out to quantify the expression of each gene involved in the urea cycle in control and AD brains and establish whether these genes could be genetic determinants of AD. We first confirmed that all the urea cycle enzyme genes are expressed in the AD brain. The expression of arginase 2 was greater in the AD brain than in the control brain. The presence of the rare arginase 2 allele rs742869 was associated with an increase in the risk of AD in men and with an earlier age-at-onset for both genders. None of the other genes in the pathway appeared to be differentially expressed in the AD brain or act as genetic determinants of the disease.

摘要

由于先前的观察表明尿素循环可能在阿尔茨海默病(AD)的发病过程中起作用,我们着手定量测定参与尿素循环的每个基因在对照和 AD 大脑中的表达情况,并确定这些基因是否可以作为 AD 的遗传决定因素。我们首先证实所有尿素循环酶基因都在 AD 大脑中表达。精氨酸酶 2 在 AD 大脑中的表达高于对照大脑。罕见的精氨酸酶 2 等位基因 rs742869 的存在与男性患 AD 的风险增加以及两性发病年龄提前有关。该通路中的其他基因在 AD 大脑中似乎没有差异表达,也不作为该疾病的遗传决定因素。

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