Modulated autophagy as RTT therapeutic strategy
Rett syndrome is a rare genetic disorder that affects girls almost exclusively and is frequently classified within the autism spectrum. Caused by mutations in related severe neonatal encephalopathy (MECP2), it can lead to severe intellectual disability (ID) in about 1 out 10 000 girls worldwide. A link between autophagy (a self-degradative process crucial for balancing sources of energy) and RTT has been recently suggested, as promising for re-activation of Mecp2 gene to revert the majority of RTT symptoms. The EU-funded RTTOPHAGY project will develop cellular and animal models RTT enabling the identification of the molecular defects responsible for altered autophagy in RTT. This will allow designing a treatment for RTT and other neurodevelopmental defects.