Blood-Brain Barrier Integrity Is Perturbed in a Mecp2-Null Mouse Model of Rett Syndrome.

ABSTRACT: Rett syndrome (RTT, online MIM 312750) is a devastating neurodevelopmental disorder characterized by motor and cognitive disabilities. It is mainly caused by pathogenetic variants in the X-linked MECP2 gene, encoding an epigenetic factor crucial for brain functioning. Despite intensive studies, the RTT pathogenetic mechanism remains to be fully elucidated. Impaired vascular function has been previously reported in RTT mouse models; however, whether an altered brain vascular homeostasis and the subsequent blood-brain barrier (BBB) breakdown occur in RTT and contribute to the disease-related cognitive impairment is still unknown. Interestingly, in symptomatic Mecp2-null (Mecp2^-/y, Mecp2^tm1.1Bird) mice, we found enhanced BBB permeability assoc

SUBMITTER: Pepe G 

PROVIDER: S-EPMC10136210 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature