Testing the therapeutic effects of autophagy enhancement in a Rett syndrome mouse model
Tommaso Seri, Gaia Tartaglione, Francesca Nuzzolillo, Luca Muzio, Diego Pozzer, Michela Palmieri · FENS Forum 2024
Introduction: Rett syndrome (RTT) is a rare neurodevelopmental disorder caused in 95% of cases by mutations in the X-linked methyl CpG-binding protein 2 (MeCP2) gene. Although apparently normal at birth, RTT patients manifest a regression phase between 6-18 months of age characterized by loss of speech, impaired motor functions, seizures and intellectual disabilities. Clinical and animal studies suggested that metabolic pathways might be affected and contribute to RTT pathophysiology. Autophagy is a catabolic process involved in the degradation of cellar debris and recently found to regulate a
ePoster · Neuroscience