Evans Lewis D, Strano Alessio, Tuck Eleanor, Campbell Ashley, Smith James, Hung Christy, Behr Tiana S, Ghetti Bernardino, Ryskeldi-Falcon Benjamin, Karakoc Emre, Iorio Francesco, Reith Alastair, Bassett Andrew R, Livesey Frederick J
UCL Great Ormond Street Institute of Child Health, Department of Developmental Biology and Cancer, Zayed Centre for Research into Rare Disease in Children, London, WC1N 1DZ, UK.
Open Targets, Wellcome Genome Campus, Cambridge, CB10 1SA, UK.
EMBO J. 2025 Aug 11. doi: 10.1038/s44318-025-00514-0.
Extracellular release and uptake of pathogenic forms of the microtubule-associated protein tau contribute to the pathogenesis of several neurodegenerative diseases, including Alzheimer's disease. Defining the cellular mechanisms and pathways for tau entry to human neurons is essential to understanding tauopathy pathogenesis and enabling the rational design of disease-modifying therapeutics. Here, whole-genome, loss-of-function CRISPR screens in human iPSC-derived excitatory neurons, the major neuronal cell type affected in these diseases, provide insights into the different cellular pathways for uptake of extracellular monomeric and fibrillar tau. Monomeric and fibrillar tau are both taken up by human neurons by receptor-mediated endocytosis, but involve different routes of entry at the neuronal surface: the low-density lipoprotein LRP1 is the primary receptor for monomeric tau, but contributes less to fibrillar tau entry. Similarly, endocytosis of monomeric tau is dependent on the familial Parkinson's disease gene LRRK2, but not required for endocytosis of fibrillar tau. These findings implicate LRP1 and LRRK2 in the pathogenesis of tauopathies and Parkinson's disease, and identify LRRK2 as a potential therapeutic target for altering progression of these diseases.
微管相关蛋白tau的致病性形式在细胞外的释放和摄取,促成了包括阿尔茨海默病在内的几种神经退行性疾病的发病机制。明确tau进入人类神经元的细胞机制和途径,对于理解tau蛋白病的发病机制以及合理设计疾病修饰疗法至关重要。在此,对人类诱导多能干细胞衍生的兴奋性神经元(这些疾病中主要受影响的神经元细胞类型)进行全基因组功能丧失型CRISPR筛选,为细胞摄取细胞外单体和纤维状tau的不同途径提供了见解。单体和纤维状tau均通过受体介导的内吞作用被人类神经元摄取,但在神经元表面涉及不同的进入途径:低密度脂蛋白LRP1是单体tau的主要受体,但对纤维状tau进入的贡献较小。同样,单体tau的内吞作用依赖于家族性帕金森病基因LRRK2,但纤维状tau的内吞作用不需要该基因。这些发现表明LRP1和LRRK2与tau蛋白病和帕金森病的发病机制有关,并确定LRRK2是改变这些疾病进展的潜在治疗靶点。