Department of Medical Imaging, Jinling Hospital, Medical School of Nanjing University, Nanjing 210002, China.
Center for Brain Imaging Science and Technology, and Center for Innovative and Collaborative Detection and Treatment of Infectious Diseases, Zhejiang University, Hangzhou, 310027, China.
Eur J Radiol. 2017 Oct;95:18-23. doi: 10.1016/j.ejrad.2017.07.006. Epub 2017 Jul 17.
To explore genetic effects of amyloid precursor protein (APP), presenilin-1/2 and apolipoprotein E (APOE) ε4 on brain structural and functional alterations in cognitively normal young adults.
Eighty healthy adults (mean age 24.0±2.5years; n=18, APP/presenilin-1/2 group; n=31, APOE ε4 group; n=31, control group [without above-mentioned gene mutation]) underwent high-resolution T1-weighted 3D anatomical imaging, resting-state functional MR imaging and neuropsychological assessments. We used voxel-based morphometry and regional homogeneity (ReHo) algorithms to investigate brain structural and functional changes among three groups, and performed correlation analyses between the brain regions with statistically significant difference and neuropsychological results.
No brain structural changes were found, however, ReHo values were increased in right parietal-frontal lobes in APOE ε4 group, and decreased in the left middle temporal gyrus in APP/presenilin-1/2 group compared with controls (all P<0.05). Compared with APOE ε4 group, decreased ReHo values of bilateral temporal lobes were shown in APP/presenilin-1/2 group (P<0.05). ReHo values of right superior frontal gyrus in APOE ε4 group positively correlated with neuropsychological tests scores(P<0.05).
Cognitively normal young adults carrying APOE ε4 or APP/presenilin-1/2 had different spontaneous brain activity patterns without cerebral structural differences.
探讨淀粉样前体蛋白（APP）、早老素 1/2 和载脂蛋白 E（APOE）ε4 基因对认知正常的年轻成年人脑结构和功能改变的遗传影响。
80 名健康成年人（平均年龄 24.0±2.5 岁；n=18，APP/早老素 1/2 组；n=31，APOE ε4 组；n=31，对照组[无上述基因突变]）接受高分辨率 T1 加权 3D 解剖成像、静息态功能磁共振成像和神经心理学评估。我们使用基于体素的形态测量学和局部一致性（ReHo）算法来研究三组之间的脑结构和功能变化，并对具有统计学差异的脑区与神经心理学结果进行相关性分析。
未发现脑结构变化，但与对照组相比，APOE ε4 组右侧顶-额叶的 ReHo 值增加，APP/早老素 1/2 组左侧颞中回的 ReHo 值降低（均 P<0.05）。与 APOE ε4 组相比，APP/早老素 1/2 组双侧颞叶的 ReHo 值降低（P<0.05）。APOE ε4 组右侧额上回的 ReHo 值与神经心理学测试评分呈正相关（P<0.05）。
携带 APOE ε4 或 APP/早老素 1/2 的认知正常年轻成年人存在不同的自发性脑活动模式，而无脑结构差异。
