mTOR pathway disruption in GABAergic neurons impacts morphological and functional development of cortical and thalamic somatosensory areas in a mouse model of autism spectrum disorder
Marcin Lipiec, Karolina Bogaj, Joanna Urban-Ciećko, Mateusz Grabowski, Jadwiga Zymer, Emilia Kolada-Nowak, Jarosław Barski, Ewelina Knapska · FENS Forum 2024
Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in TSC1/2 genes, leading to mTOR pathway dysregulation and diverse cellular impacts. Individuals with TSC face severely heightened risk of autism spectrum disorder (ASD), highlighting a genetic link between the two conditions. To model ASD etiology in the context of TSC, we developed a new mouse model with Tsc2 knockout induced mid-gestation in all postmitotic, GABAergic neurons. As ASD and TSC both involve somatosensory processing challenges, we utilized our mouse model to assess how the mutation affects the cortical a
ePoster · Neuroscience