Karolinska Institutet, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet Dainippon Sumitomo Pharma Alzheimer Center (KASPAC), Sweden.
Neurobiol Aging. 2011 Feb;32(2):280-92. doi: 10.1016/j.neurobiolaging.2009.02.021. Epub 2009 Mar 28.
The Arctic APP mutation (E693G) leads to dementia with clinical features similar to Alzheimer disease (AD), but little is known about the pathogenic mechanism of this mutation. To address this question, we have generated a transgenic mouse model, TgAPParc, with neuron-specific expression of human APP with the Arctic mutation (hAPParc). Heterozygous mice from two separate founder lines with different levels of expression of hAPParc were analyzed with respect to brain morphology and behavior every 3 months until the age of 18 months. Standard histological stainings and immunohistochemistry using a panel of Aβ antibodies showed an age- and dose-dependant progression of amyloid deposition in the brain, starting in the subiculum and spreading to the thalamus. Cognitive behavioral testing revealed deficits in hippocampus-dependent spatial learning and memory in the Barnes maze test. This study demonstrates that the Arctic APP mutation is sufficient to cause amyloid deposition and cognitive dysfunction, and thus the TgAPParc mouse model provides a valuable tool to study the effect of the Arctic mutation in vivo without possible confounding effect of other APP mutations.
北极 APP 突变(E693G)导致具有与阿尔茨海默病(AD)相似临床特征的痴呆,但对该突变的致病机制知之甚少。为了解决这个问题,我们已经构建了一种具有神经元特异性表达人类具有北极突变的 APP(hAPParc)的转基因小鼠模型 TgAPParc。对来自两个具有不同 hAPParc 表达水平的独立起始线的杂合子小鼠每隔 3 个月进行一次大脑形态和行为分析,直至 18 个月大。使用一组 Aβ 抗体进行标准组织学染色和免疫组织化学染色显示,脑内淀粉样蛋白沉积具有年龄和剂量依赖性,从海马旁回开始,并扩散到丘脑。认知行为测试显示在 Barnes 迷宫测试中,海马依赖性空间学习和记忆存在缺陷。这项研究表明,北极 APP 突变足以引起淀粉样蛋白沉积和认知功能障碍,因此 TgAPParc 小鼠模型提供了一种有价值的工具,可在体内研究北极突变的影响,而不会受到其他 APP 突变的可能混杂影响。