Molecular analysis and pathogenesis of the RAS/MAPK syndromes

2016 Fiscal Year Final Research Report

• Project/Area Number: 26293241
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Tohoku University
• Principal Investigator: Aoki Yoko 東北大学, 医学(系)研究科(研究院), 教授 (80332500)
• Co-Investigator(Kenkyū-buntansha): 松原 洋一 国立研究開発法人国立成育医療研究センター, 研究所, 研究所長 (00209602) ; 新堀 哲也 東北大学, 医学(系)研究科(研究院), 准教授 (40436134) ; 井上 晋一 東北大学, 医学(系)研究科(研究院), 助教 (70622091)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 遺伝性疾患 / シークエンス / モデルマウス

Outline of Final Research Achievements

We have performed genetic testing in patients with RASopathies and successfully identified a new gene, RIT1, in patients with Noonan syndrome. In this study, we further analyzed clinical manifestations in RIT1 mutation-positive patients and performed functional analysis in cell culture system. We developed comprehensive analysis system using a next generation sequencer to analyze genes for RASopathies. We successfully generated model mice for CFC syndrome. The results would lead to the understanding of the pathogenesis of these disorders and the development of therapeutic means.

Free Research Field

先天異常症の分子遺伝学