Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model.

ABSTRACT: Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutation in the X-linked MECP2 gene, encoding methyl-CpG-binding protein 2. We have created a mouse model ( Mecp2 A140V "knock-in" mutant) expressing the recurrent human MECP2 A140V mutation linked to an X-linked mental retardation/Rett syndrome phenotype. Morphological analyses focused on quantifying soma and nucleus size were performed on primary hippocampus and cerebellum granule neuron (CGN) cultures from mutant ( Mecp2^A140V/y) and wild type ( Mecp2^+/y) male mice. Cultured hippocampus and cerebellar granule neurons from mutant animals were significantly smaller than neurons from wild type animals. We also examined soma size in hippocampus neurons from individual femal

SUBMITTER: Rangasamy S 

PROVIDER: S-EPMC5040159 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature