Is the Urea Cycle Involved in Alzheimer's Disease?
Is the Urea Cycle Involved in Alzheimer's Disease?
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DOI：
10.3233/jad-2010-100630
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发表时间：
2010-01-01
影响因子：
4
通讯作者：
Lambert, Jean-Charles
中科院分区：
文献类型：
--
作者：
Hansmannel, Franck;Sillaire, Adeline;Lambert, Jean-Charles
由于之前的观察表明尿素循环可能在阿尔茨海默病 (AD) 过程中发挥作用，因此我们着手量化对照和 AD 大脑中参与尿素循环的每个基因的表达，并确定这些基因是否可能是 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。 AD 脑中精氨酸酶 2 的表达高于对照脑中的表达。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的发病年龄较早有关。该通路中的其他基因似乎在 AD 大脑中没有差异表达，也没有充当该疾病的遗传决定因素。
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.