AUTHOR=Akaba Yuichi , Shiohama Tadashi , Komaki Yuji , Seki Fumiko , Ortug Alpen , Sawada Daisuke , Uchida Wataru , Kamagata Koji , Shimoji Keigo , Aoki Shigeki , Takahashi Satoru , Suzuki Takeshi , Natsume Jun , Takahashi Emi , Tsujimura Keita 

TITLE=Comprehensive Volumetric Analysis of Mecp2-Null Mouse Model for Rett Syndrome by T2-Weighted 3D Magnetic Resonance Imaging

JOURNAL=Frontiers in Neuroscience

VOLUME=16

YEAR=2022

URL=https://www.frontiersin.org/journals/neuroscience/articles/10.3389/fnins.2022.885335

DOI=10.3389/fnins.2022.885335

ISSN=1662-453X

ABSTRACT=<p>Rett syndrome (RTT) is a severe progressive neurodevelopmental disorder characterized by various neurological symptoms. Almost all RTT cases are caused by mutations in the X-linked methyl-CpG-binding protein 2 (<italic>MeCP2</italic>) gene, and several mouse models have been established to understand the disease. However, the neuroanatomical abnormalities in each brain region of RTT mouse models have not been fully understood. Here, we investigated the global and local neuroanatomy of the <italic>Mecp2</italic> gene-deleted RTT model (<italic>Mecp2</italic>-KO) mouse brain using T2-weighted 3D magnetic resonance imaging with different morphometry to clarify the brain structural abnormalities that are involved in the pathophysiology of RTT. We found a significant reduction in global and almost all local volumes in the brain of <italic>Mecp2</italic>-KO mice. In addition, a detailed comparative analysis identified specific volume reductions in several brain regions in the <italic>Mecp2</italic>-deficient brain. Our analysis also revealed that the <italic>Mecp2</italic>-deficient brain shows changes in hemispheric asymmetry in several brain regions. These findings suggest that MeCP2 affects not only the whole-brain volume but also the region-specific brain structure. Our study provides a framework for neuroanatomical studies of a mouse model of RTT.</p>