Elucidation of the molecular mechanism of Fmr1-associated premature ovarian failure based on novel protein-protein interactions

2017 Fiscal Year Final Research Report

• Project/Area Number: 16K15709
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Obstetrics and gynecology
• Research Institution: Nagasaki University
• Principal Investigator: YAMAMOTO Kazuo 長崎大学, 医歯薬学総合研究科(医学系), 准教授 (70255123)
• Project Period (FY): 2016-04-01 – 2018-03-31
• Keywords: 脆弱性X症候群 / Fmr1関連早期卵巣不全 / 細胞サイズ / タンパク質相互作用 / 遺伝子発現 / 翻訳制御

Outline of Final Research Achievements

Fragile X syndrome (FXS) is a hereditary disease that causes mental retardation most frequently. Mutations in Fragile X mental retardation 1 (Fmr1) have been identified as the causative agent of FXS. It has been reported that ~20% of female carriers of pre-mutations in Fmr1 developed fragile X-associated premature ovarian failure (POF) or tremor/ataxia syndrome. However, it is not determined how Fmr1 impacts these disorders. Based on novel protein-protein interactions via a cell size-controlling gene product and other original observations, this investigator hypothesized that the targets of Fmr1 were modulated differentially in brain and ovary through the interactions among the proteins. Experiments using mice and cultured cells supported the hypothesis, and thus further investigations carried out to identify an ovary-specific genetic cascade of Fmr1.

Free Research Field

分子細胞生物学