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.

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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
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article

cGAS inhibition delays TDP-43-driven ALS Pathogenesis

Man Ying Wong, Marta Olah, Nagiri Ravi Kumar, Sadaf Amin et al.
bioRxiv (Cold Spring Harbor Laboratory)
Amyotrophic Lateral Sclerosis Research
article

cGAS inhibition delays TDP-43-driven ALS Pathogenesis

Man Ying Wong, Marta Olah, Nagiri Ravi Kumar, Sadaf Amin, Hagen Tilgner, Se-In Lee, 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
article en

Abstract

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.

bioRxiv (Cold Spring Harbor Laboratory)
Cornell University (US), Columbia University Irving Medical Center (US), MIND Research Institute (US), Institute of Neuroimmunology of the Slovak Academy of Sciences (SK)
Good health and well-being
Openalex Percentile: Top 47%
Amyotrophic Lateral Sclerosis Research
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