Unraveling autophagic imbalances and therapeutic insights in Mecp2-deficient models

ABSTRACT: Loss-of-function mutations in MeCP2 are associated to Rett syndrome (RTT), a severe neurodevelopmental disease. Mainly working as a transcriptional regulator, MeCP2 absence leads to gene expression perturbations resulting in deficits of synaptic function and neuronal activity. In addition, RTT patients and mouse models suffer from a complex metabolic syndrome, suggesting that related cellular pathways might contribute to neuropathogenesis. Along this line, autophagy is critical in sustaining developing neuron homeostasis by breaking down dysfunctional proteins, lipids, and organelles. Here, we investigated the autophagic pathway in RTT and found reduced content of autophagic vacuoles in Mecp2 knock-out neurons. This correlates with defective lipidation of LC3B, probably caused by a deficie

SUBMITTER: Dr. Alessandro Esposito 

PROVIDER: S-SCDT-10_1038-S44321-024-00151-W | biostudies-other |

REPOSITORIES: biostudies-other