Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Cell Rep. 2012 Oct 25;2(4):789-98. doi: 10.1016/j.celrep.2012.09.007. Epub 2012 Oct 11.
The pathogenic mechanisms of frontotemporal dementia (FTD) remain poorly understood. Here we generated multiple induced pluripotent stem cell lines from a control subject, a patient with sporadic FTD, and an FTD patient with a novel heterozygous GRN mutation (progranulin [PGRN] S116X). In neurons and microglia differentiated from PGRN S116X induced pluripotent stem cells, the levels of intracellular and secreted PGRN were reduced, establishing patient-specific cellular models of PGRN haploinsufficiency. Through a systematic screen of inducers of cellular stress, we found that PGRN S116X neurons, but not sporadic FTD neurons, exhibited increased sensitivity to staurosporine and other kinase inhibitors. Moreover, the serine/threonine kinase S6K2, a component of the phosphatidylinositol 3-kinase and mitogen-activated protein kinase pathways, was specifically downregulated in PGRN S116X neurons. Both increased sensitivity to kinase inhibitors and reduced S6K2 were rescued by PGRN expression. Our findings identify cell-autonomous, reversible defects in patient neurons with PGRN deficiency, and provide a compelling model for studying PGRN-dependent pathogenic mechanisms and testing potential therapies.
额颞叶痴呆(FTD)的发病机制仍不清楚。在这里,我们从一名对照受试者、一名散发性 FTD 患者和一名 FTD 患者(PGRN 基因杂合突变,即前颗粒蛋白[PGRN] S116X)中生成了多个诱导多能干细胞系。在源自 PGRN S116X 诱导多能干细胞的神经元和小胶质细胞中,细胞内和分泌型 PGRN 的水平降低,从而建立了 PGRN 杂合不足的患者特异性细胞模型。通过对细胞应激诱导剂的系统筛选,我们发现 PGRN S116X 神经元对 staurosporine 和其他激酶抑制剂的敏感性增加,而散发性 FTD 神经元则没有。此外,丝氨酸/苏氨酸激酶 S6K2 是磷脂酰肌醇 3-激酶和丝裂原活化蛋白激酶途径的组成部分,特异性地下调了 PGRN S116X 神经元中的 S6K2。激酶抑制剂敏感性增加和 S6K2 减少均可通过 PGRN 表达得到挽救。我们的发现确定了 PGRN 缺乏的患者神经元中存在自主的、可逆的缺陷,并为研究 PGRN 依赖性致病机制和测试潜在治疗方法提供了一个有说服力的模型。