Human iPSC 4R tauopathy model uncovers modifiers of tau propagation.

Parra Bravo C, Giani AM, Madero-Perez J, Zhao Z, Wan Y, Samelson AJ, Wong MY, Evangelisti A, Cordes E, Fan L, Ye P, Zhu D, Pozner T, Mercedes M, Patel T, Yarahmady A, Carling GK, Sterky FH, Lee VMY, Lee EB, DeTure M, Dickson DW, Sharma M, Mok SA, Luo W, Zhao M, Kampmann M, Gong S, Gan L
Cell 2024
Open on PubMed

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.