cGAS inhibition delays TDP-43-driven ALS Pathogenesis
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder marked by motor neuron loss and cytoplasmic mislocalization of TAR DNA-binding protein 43 (TDP-43), a key regulator of RNA splicing. However, the upstream modulators of this process remain poorly defined. Here we identify cyclic GMP-AMP synthase (cGAS) as a central mediator of TDP-43 pathology and associated mis-splicing. cGAS expression was elevated in ALS patient brains and enriched across activated microglia. In human iPSC-derived microglia-motor neuron co-cultures, neuronal TDP-43 pathology triggered microglial cGAS activation, whereas pharmacological inhibition with a potent human cGAS inhibitor reduced phosphorylated TDP-43, restored lysosomal and phagocytic programs, normalized microglial reactivity, and reversed TDP-43-associated RNA splicing defects. In vivo, cGAS inhibition in TDP-43 Q331K mice reversed widespread RNA splicing abnormalities across neurons and oligodendrocyte lineage cells, attenuated neurodegenerative pathology, and preserved motor function. Together, these findings identify cGAS as a druggable upstream regulator linking innate immune signaling to TDP-43-dependent RNA mis-splicing and neurodegeneration, and establish cGAS inhibition as a promising therapeutic strategy for ALS.
Authors
- Man Ying Wong (ORCID: https://orcid.org/0000-0002-2165-9328)
- Marta Olah (ORCID: https://orcid.org/0000-0003-4945-855X)
- Nagiri Ravi Kumar (ORCID: https://orcid.org/0000-0002-4531-8288)
- Sadaf Amin (ORCID: https://orcid.org/0000-0002-3758-6485)
- Hagen Tilgner (ORCID: https://orcid.org/0000-0002-7058-3606)
- Se-In Lee (ORCID: https://orcid.org/0000-0002-5503-0210)
- Jingjie Zhu
- Pearly Ye
- Abulimiti Akida Aikedan
- Wenhui Qu
- Weixi Feng
- Kendra Norman
- Guillermo Billy Coronas-Samano
- Si-Yu Wang
- Yajing Liu
- Maitreyee Bhagwat
- Li Gan
Institutions
- Cornell University (US)
- Columbia University Irving Medical Center (US)
- MIND Research Institute (US)
- Institute of Neuroimmunology of the Slovak Academy of Sciences (SK)
Publication Details
- Journal
- bioRxiv (Cold Spring Harbor Laboratory)
- Published
- 2026-02-26
- DOI
- https://doi.org/10.64898/2026.02.24.707791
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00