Pathophysiology of Down's syndrome and rare dose-effect diseases causing intellectual disabilities (ID) or autism spectrum disorders (ASD) and other comorbidities
Team Leader : Yann HERAULT
Department : Translational medecine and neurogenetics
Intraepidermal Nerve Fiber are visualized with a PGP9.5 antibody (red) while the cell nuclei are colored by Dapi (blue)
The project aims to model in mice rare variants identified in patients suffering from chronic neuropathic pain or itching to understand the implication of these mutations in these pathologies. This project takes place within the framework of the European Horizon 2020 Pain-Net project www.pain-net.eu . Mutations in the SCN9A and SCN10A sodium channel genes as well as in the COL6A5 collagen gene have been associated with these pathologies in some patients (Xue et al, 2020). Genetic models in mice were generated by the CRISP / R-Cas9 system or by homologous recombination. The mutant lines are characterized at the level of the peripheral nervous system and for their sensitivity to pain. This work will provide a better understanding of the role of these mutations and more generally of these genes in pain control.