Plasma amyloid ß protein is elevated in late-onset Alzheimer disease families
Plasma amyloid ß protein is elevated in late-onset Alzheimer disease families
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DOI：
10.1212/01.wnl.0000278386.00035.21
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发表时间：
2008-02-19
期刊：
影响因子：
9.9
通讯作者：
Graff-Radford, N. R.
中科院分区：
文献类型：
--
作者：
Ertekin-Taner, N.;Younkin, L. H.;Graff-Radford, N. R.
目的：常染色体显性遗传突变导致的早发性阿尔茨海默病（AD）患者血浆A β水平升高。我们的目的是确定是否存在类似的遗传海拔在晚发性AD（LOAD）。方法：我们测量了血浆A SS在一级亲属的LOAD患者的横截面系列和扩展LOAD家庭。我们筛选这些科目的早发性AD基因的致病性突变，并确定他们的ApoE genotype.Results：血浆A SS显着升高的LOAD一级亲属相比，无关的控制和结婚的配偶。这些海拔是不是由于载脂蛋白E104或致病性编码突变在已知的早发性AD genes.Conclusions：研究结果提供了强有力的证据，存在新的，但未知的遗传因素，影响迟发性阿尔茨海默病的增加A SS。
Objective: Plasma A ss levels are elevated in early-onset Alzheimer disease (AD) caused by autosomal dominant mutations. Our objective was to determine whether similar genetic elevations exist in late-onset AD (LOAD).Methods: We measured plasma A ss in first-degree relatives of patients with LOAD in a cross-sectional series and in extended LOAD families. We screened these subjects for pathogenic mutations in early-onset AD genes and determined their ApoE genotypes.Results: Plasma A ss is significantly elevated in the LOAD first-degree relatives in comparison to unrelated controls and married-in spouses. These elevations are not due to ApoE epsilon 4 or pathogenic coding mutations in the known early-onset AD genes.Conclusions: The findings provide strong evidence for the existence of novel, as yet unknown genetic factors that affect late-onset Alzheimer disease by increasing A ss.