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MATRIN3 deficiency triggers autoinflammation via cGAS-STING activation

Islam, Z.; Polash, A.; Suzawa, M.; Chim, B.; Kuhn, S.; Sultana, S.; Cutrona, N.; Smith, P. T.; Kabat, J.; Ganesan, S.; Foroushani, A.; Hafner, M.; Muljo, S. A.

2024-04-02 molecular biology
10.1101/2024.04.01.587645 bioRxiv
Show abstract

Interferon-stimulated genes (ISGs) comprise a program of immune effectors important for host immune defense. When uncontrolled, ISGs play a central role in interferonopathies and other inflammatory diseases. The mechanisms responsible for turning on ISGs are not completely known. By investigating MATRIN3 (MATR3), a nuclear RNA-binding protein mutated in familial ALS, we found that perturbing MATR3 results in elevated expression of ISGs. Using an integrative approach, we elucidate a pathway that leads to activation of cGAS-STING. This outlines a plausible mechanism for pathogenesis in a subset of ALS, and suggests new diagnostic and therapeutic approaches for this fatal disease. One-Sentence SummaryMis-splicing of Tudor Domain Containing 3 (TDRD3) in the absence of MATR3 unleashes R-loops and interferon-stimulated genes.

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