APOE3-R136S mutation confers resilience against tau pathology via cGAS-STING-IFN inhibition.

TitleAPOE3-R136S mutation confers resilience against tau pathology via cGAS-STING-IFN inhibition.
Publication TypeJournal Article
Year of Publication2025
AuthorsNaguib S, Lopez-Lee C, Torres ERuth, Lee S-I, Zhu J, Zhu D, Ye P, Norman K, Zhao M, Wong MYing, Ambaw YA, Castaneda R, Wang W, Patel T, Bhagwat M, Norinsky R, Mok S-A, Walther TC, Farese RV, Luo W, Sinha S, Wu Z, Fan L, Gong S, Gan L
JournalbioRxiv
Date Published2025 Jan 12
ISSN2692-8205
Abstract

The Christchurch mutation (R136S) on the APOE3 (E3 S/S ) gene is associated with attenuation of tau load and cognitive decline despite the presence of a causal PSEN1 mutation and high levels of amyloid beta pathology in the carrier1. However, the specific molecular mechanisms enabling the E3 S/S mutation to mitigate tau-induced neurodegeneration remain unclear. Here, we replaced mouse ApoE with wild-type human E3 or E3 S/S on a tauopathy background. The R136S mutation markedly decreased tau load and protected against tau-induced synaptic loss, myelin loss, and reduction in theta and gamma powers. Additionally, the R136S mutation reduced interferon response to tau pathology in both mouse and human microglia, suppressing cGAS-STING activation. Treating tauopathy mice carrying wild-type E3 with a cGAS inhibitor protected against tau-induced synaptic loss and induced similar transcriptomic alterations to those induced by the R136S mutation across brain cell types. Thus, suppression of microglial cGAS-STING-IFN pathway plays a central role in mediating the protective effects of R136S against tauopathy.

DOI10.1101/2024.04.25.591140
Alternate JournalbioRxiv
PubMed ID38712164
PubMed Central IDPMC11071490
Grant ListR01 AG074541 / AG / NIA NIH HHS / United States
RF1 AG079557 / AG / NIA NIH HHS / United States
F32 AG085960 / AG / NIA NIH HHS / United States
R01 AG072758 / AG / NIA NIH HHS / United States
R01 AG079291 / AG / NIA NIH HHS / United States