Title | APOE3-R136S mutation confers resilience against tau pathology via cGAS-STING-IFN inhibition. |
Publication Type | Journal Article |
Year of Publication | 2025 |
Authors | Naguib 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 |
Journal | bioRxiv |
Date Published | 2025 Jan 12 |
ISSN | 2692-8205 |
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. |
DOI | 10.1101/2024.04.25.591140 |
Alternate Journal | bioRxiv |
PubMed ID | 38712164 |
PubMed Central ID | PMC11071490 |
Grant List | R01 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 |