Article
AD-linked R47H-TREM2 mutation induces disease-enhancing microglial states via AKT hyperactivation.
Science translational medicine - 1 Dec 2021
Sayed Faten A, Kodama Lay, Fan Li, Carling Gillian K, Udeochu Joe C, Le David, Li Qingyun, Zhou Lu, Wong Man Ying, Horowitz Rose, Ye Pearly, Mathys Hansruedi, Wang Minghui, Niu Xiang, Mazutis Linas, Jiang Xueqiao, Wang Xueting, Gao Fuying, Brendel Matthew, Telpoukhovskaia Maria, Tracy Tara E, Frost Georgia, Zhou Yungui, Li Yaqiao, Qiu Yue, Cheng Zuolin, Yu Guoqiang, Hardy John, Coppola Giovanni, Wang Fei, DeTure Michael A, Zhang Bin, Xie Lei, Trajnowski John Q, Lee Virginia M Y, Gong Shiaoching, Sinha Subhash C, Dickson Dennis W, Luo Wenjie, Gan Li
Abstract excerpt
The hemizygous R47H variant of triggering receptor expressed on myeloid cells 2 (TREM2), a microglia-specific gene in the brain, increases risk for late-onset Alzheimer’s disease (AD). Using transcriptomic analysis of single nuclei from brain tissues of patients with AD carrying the R47H mutation or the common variant (CV)–TREM2, we found that R47H-associated microglial subpopulations had enhanced inflammatory...
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