Lee Sang-Eun, Park Soomin, Kang Rian, Lee Taehoon, Yu Won Jong, Chang Sunghoe, Park Jong-Chan
Department of Physiology and Biomedical Sciences, College of Medicine, Seoul National University, Korea.
Neuroscience Research Institute, Seoul National University Medical Research Center, Korea.
FEBS Open Bio. 2024 Dec;14(12):2059-2071. doi: 10.1002/2211-5463.13904. Epub 2024 Oct 13.
Alzheimer's disease (AD) is characterized by significant alterations in hippocampal function and structure, but the molecular mechanisms underlying the hippocampal region remain elusive. We integrated multiple transcriptome datasets including human or rat hippocampus (GSE173955, GSE129051, GSE84422) to identify candidate genes. Subsequent analyses including gene ontology analysis and protein-protein interaction mapping were performed to identify key genes and pathways. We found that glutamate ionotropic receptor NMDA-type subunit 3A (GRIN3A) and glutamate metabotropic receptor 8 (GRM8), which are related to the glutamatergic system, were the top two annotated genes and directly related to MAPT, which encodes a tau protein. Since there is no direct evidence of interaction between tauopathy and these genes in AD, further transcriptomic data (GSE125957, GSE56772) from tau transgenic mice and experimental validations through primary rat hippocampal neurons and induced pluripotent stem cell (iPSC)-derived brain organoids were performed. Interestingly, we identified that decreased NR3A (encoded by GRIN3A) and mGluR8 (encoded by GRM8) are correlated with tauopathy and loss of postsynaptic function in AD. Taken together, our results identified a novel tauopathy biomarker GRIN3A in AD. Furthermore, our findings suggest that an integrated approach combining public databases and diverse experimental validations can contribute to the advancement of precision medicine therapies.
阿尔茨海默病(AD)的特征是海马功能和结构发生显著改变,但其海马区域潜在的分子机制仍不清楚。我们整合了包括人类或大鼠海马体的多个转录组数据集(GSE173955、GSE129051、GSE84422)以识别候选基因。随后进行了包括基因本体分析和蛋白质-蛋白质相互作用图谱分析在内的分析,以识别关键基因和通路。我们发现,与谷氨酸能系统相关的离子型谷氨酸受体NMDA型亚基3A(GRIN3A)和代谢型谷氨酸受体8(GRM8)是注释最多的两个基因,并且与编码tau蛋白的MAPT直接相关。由于在AD中tau病变与这些基因之间没有直接相互作用的证据,因此我们使用了来自tau转基因小鼠的进一步转录组数据(GSE125957、GSE56772),并通过原代大鼠海马神经元和诱导多能干细胞(iPSC)衍生的脑类器官进行了实验验证。有趣的是,我们发现AD中NR3A(由GRIN3A编码)和mGluR8(由GRM8编码)的减少与tau病变和突触后功能丧失相关。综上所述,我们的研究结果在AD中鉴定出一种新型的tau病变生物标志物GRIN3A。此外,我们的研究结果表明,结合公共数据库和多样实验验证的综合方法有助于推进精准医学治疗的发展。