decreased expression of neuronal markers TLG4, MAP2, TUJ1, and SYN. These features were partially rescued by treatment with reverse transcriptase inhibitors (such as anti-HIV drugs), indicating clinical relevance on this extreme neurological condition. Additionally, TREX1-deficient astrocytes also increased ssDNA and triggered an inflammatory response that affected neurons, suggesting a non-cell-autonomous inflammatory effect that may be contributing to neuronal loss in AGS. The TREX1 mutation highlights the importance of human models, since mouse models for the disease don’t present any neurological symptoms.
