ALS/FTD-linked TBK1 deficiency in microglia induces an aged-like microglial signature and drives social recognition deficits in mice.

Lenoel I, Ribon M, Lorenc F, Diebold A, Philibert CE, Robaldo D, Badsi M, Perronnet J, Lameth J, Berriat F, Misawa H, Coutelier M, Cassel R, Sarrazin N, Jost-Mousseau C, Bohl D, Millecamps S, Mallat M, Brenner D, Weishaupt JH, Boillée S, Lobsiger CS
Nature communications 2025
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TANK-Binding Kinase 1 (TBK1) is involved in autophagy and immune signaling. Dominant loss-of-function mutations in TBK1 have been linked to Amyotrophic Lateral Sclerosis (ALS), Fronto-temporal dementia (FTD), and ALS/FTD. However, pathogenic mechanisms remain unclear, particularly the cell-type specific disease contributions of TBK1 mutations. Here, we show that deleting Tbk1 from mouse motor neurons does not induce transcriptional stress, despite lifelong signs of autophagy deregulations. Conversely, Tbk1 deletion in microglia alters their homeostasis and reactive responses. In both spinal cord and brain, Tbk1 deletion leads to a pro-inflammatory, primed microglial signature with features of ageing and neurodegeneration. While it does not induce or modify ALS-like motor neuron damage, microglial Tbk1 deletion is sufficient to cause early FTD-like social recognition deficits. This phenotype is linked to focal microglial activation and T cell infiltration in the substantia nigra pars reticulata and pallidum. Our results reveal that part of TBK1-linked FTD disease originates from microglial dysfunction.

8 Figures Extracted
Fig. 1
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Despite lifelong p62 accumulations, spinal cord motor neurons in mice are resistant to Tbk1 loss. a Quantification of motor neurons (MN) in the lum...
Fig. 2
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Microglial Tbk1 deletion in vitro leads to stimulus-dependent over-activated or dampened responses. a Setup for transcriptional analysis of neonata...
Fig. 3
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Tbk1 loss in spinal cord microglia increases their density and induces a pro-inflammatory signature. a Representative immunofluorescence images of m...
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Microglial Tbk1 loss dampens the response to systemic LPS, but does not modify motor neuron damage. a Setup for RNAseq of microglia 24 h after syst...
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Microglial Tbk1 deletion is sufficient to induce an FTD-like social recognition deficit. a Workflow of the 3-chamber test to assess presence of soc...
Fig. 6
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Tbk1 loss in brain microglia induces an early shift to a pro-inflammatory, aged-like signature. a Setup to compare microglia from young and aged (fe...
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Meta-analysis links Tbk1 deleted microglia to primed microglia from ageing and neurodegeneration. a UpSetPlot depicting the results of the meta-ana...
Fig. 8
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Microglial Tbk1 -KO leads to focal microglial activation and T cell infiltration in the substantia nigra pars reticulata. a Representative IBA1 imm...