Helen and Robert Appel Alzheimer's Disease Institute, Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY 10021, USA; Neuroscience Graduate Program, Weill Cornell Medicine, New York, NY 10021, USA.
Helen and Robert Appel Alzheimer's Disease Institute, Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY 10021, USA.
Cell. 2024 May 9;187(10):2446-2464.e22. doi: 10.1016/j.cell.2024.03.015. Epub 2024 Apr 5.
Tauopathies are age-associated neurodegenerative diseases whose mechanistic underpinnings remain elusive, partially due to a lack of appropriate human models. Here, we engineered human induced pluripotent stem cell (hiPSC)-derived neuronal lines to express 4R Tau and 4R Tau carrying the P301S MAPT mutation when differentiated into neurons. 4R-P301S neurons display progressive Tau inclusions upon seeding with Tau fibrils and recapitulate features of tauopathy phenotypes including shared transcriptomic signatures, autophagic body accumulation, and reduced neuronal activity. A CRISPRi screen of genes associated with Tau pathobiology identified over 500 genetic modifiers of seeding-induced Tau propagation, including retromer VPS29 and genes in the UFMylation cascade. In progressive supranuclear palsy (PSP) and Alzheimer's Disease (AD) brains, the UFMylation cascade is altered in neurofibrillary-tangle-bearing neurons. Inhibiting the UFMylation cascade in vitro and in vivo suppressed seeding-induced Tau propagation. This model provides a robust platform to identify novel therapeutic strategies for 4R tauopathy.
Tau 病是与年龄相关的神经退行性疾病,其发病机制仍不清楚,部分原因是缺乏合适的人类模型。在这里,我们通过基因工程手段构建了人诱导多能干细胞(hiPSC)衍生的神经元系,当分化为神经元时,这些神经元系可以表达 4R Tau 和携带 P301S MAPT 突变的 4R Tau。4R-P301S 神经元在接种 Tau 原纤维后会出现进行性 Tau 包涵体,并再现 tau 病表型的特征,包括共享转录组特征、自噬体积累和神经元活性降低。对与 Tau 病理生物学相关的基因进行 CRISPRi 筛选,确定了超过 500 个与接种诱导的 Tau 传播有关的遗传修饰物,包括逆行 VPS29 和 UFMylation 级联中的基因。在进行性核上性麻痹(PSP)和阿尔茨海默病(AD)脑中,神经原纤维缠结携带神经元中的 UFMylation 级联发生改变。在体外和体内抑制 UFMylation 级联可以抑制接种诱导的 Tau 传播。该模型为鉴定 4R Tau 病的新型治疗策略提供了一个强大的平台。