Elucidation of common mechanisms of MECP2 abnormal diseases

2020 Fiscal Year Final Research Report

• Project/Area Number: 18K06484
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 46010:Neuroscience-general-related
• Research Institution: Nagoya University
• Principal Investigator: Tsujimura Keita 名古屋大学, 理学研究科, 特任講師 (60588474)
• Project Period (FY): 2018-04-01 – 2021-03-31
• Keywords: 発達障害 / 疾患メカニズム / 遺伝子発現

Outline of Final Research Achievements

MECP2 gene variations cause severe developmental disorders such as Rett syndrome and MECP2 duplication syndrome. MECP2 mutations are also linked to a variety of brain developmental disorders including autism spectrum disorder (ASD), intellectual disability and seizure. Therefore, it is anticipated that elucidation of molecular pathogenesis of developmental disorders caused by MECP2 variations leads to understanding of a broad range of developmental diseases and development of novel diagnostic and therapeutic avenues. However, mechanisms of molecular pathogenesis of developmental disorders caused by MECP2 variations are unclear. To investigate common molecular mechanisms of the MECP2 abnormal diseases, we prepared and established disease models of Rest syndrome and MECP2 duplication, respectively, in this study. These research resources contribute to studies of pathophysiology of broad developmental disorders.

Free Research Field

分子生物学、神経科学

Academic Significance and Societal Importance of the Research Achievements

本研究は単一遺伝性疾患であるレット症候群とMECP2重複症候群の共通病態を研究することを企図した。この目的のために、レット症候群とMECP2重複症候群の両疾患モデル生物の取得と構築に取り組んだ。また、詳細な共通病態を解析するために必要な遺伝子改変マウスとプラスミドDNAを取得し、研究の遂行を進めた。疾患モデル生物の表現型を解析し、研究リソースとしての有用性を確認した。これらにより、両疾患の共通メカニズムを研究するための準備を整備することができ、本研究以外の病態解明研究にも資する成果を得た。