Barcelonaβeta Brain Research Center (BBRC), Pasqual Maragall Foundation, 08005 Barcelona, Spain.
Hospital del Mar Medical Research Institute (IMIM), 08005 Barcelona, Spain.
Cereb Cortex. 2020 Jun 1;30(7):4110-4120. doi: 10.1093/cercor/bhaa034.
Gray matter networks (GMn) provide essential information on the intrinsic organization of the brain and appear to be disrupted in Alzheimer's disease (AD). Apolipoprotein E (APOE)-ε4 represents the major genetic risk factor for AD, yet the association between APOE-ε4 and GMn has remained unexplored. Here, we determine the impact of APOE-ε4 on GMn in a large sample of cognitively unimpaired individuals, which was enriched for the genetic risk of AD. We used independent component analysis to retrieve sources of structural covariance and analyzed APOE group differences within and between networks. Analyses were repeated in a subsample of amyloid-negative subjects. Compared with noncarriers and heterozygotes, APOE-ε4 homozygotes showed increased covariance in one network including primarily right-lateralized, parietal, inferior frontal, as well as inferior and middle temporal regions, which mirrored the formerly described AD-signature. This result was confirmed in a subsample of amyloid-negative individuals. APOE-ε4 carriers showed reduced covariance between two networks encompassing frontal and temporal regions, which constitute preferential target of amyloid deposition. Our data indicate that, in asymptomatic individuals, APOE-ε4 shapes the cerebral organization in a way that recapitulates focal morphometric alterations observed in AD patients, even in absence of amyloid pathology. This suggests that structural vulnerability in neuronal networks associated with APOE-ε4 may be an early event in AD pathogenesis, possibly upstream of amyloid deposition.
灰质网络 (GMn) 提供了大脑内在组织的重要信息,并且似乎在阿尔茨海默病 (AD) 中受到了破坏。载脂蛋白 E (APOE)-ε4 是 AD 的主要遗传风险因素,但 APOE-ε4 与 GMn 之间的关联仍未得到探索。在这里,我们在一个认知功能未受损的个体的大样本中确定了 APOE-ε4 对 GMn 的影响,该样本中 AD 的遗传风险得到了富集。我们使用独立成分分析来检索结构协方差的源,并分析了网络内和网络间 APOE 组的差异。在一个淀粉样蛋白阴性的亚组中重复了这些分析。与非携带者和杂合子相比,APOE-ε4 纯合子在一个包括主要右侧、顶叶、额下回以及下颞和中颞区域的网络中表现出协方差增加,这与以前描述的 AD 特征一致。这一结果在一个淀粉样蛋白阴性的亚组中得到了证实。APOE-ε4 携带者在两个包括额叶和颞叶区域的网络之间表现出协方差减少,这些区域是淀粉样蛋白沉积的优先靶点。我们的数据表明,在无症状个体中,APOE-ε4 以一种重现 AD 患者中观察到的局灶性形态学改变的方式塑造大脑组织,即使没有淀粉样蛋白病理学。这表明与 APOE-ε4 相关的神经元网络的结构脆弱性可能是 AD 发病机制中的早期事件,可能在淀粉样蛋白沉积之前。