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iNPH model mice and identification of susceptibility genes for iNPH

Research Project

Project/Area Number 18K07520
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 52020:Neurology-related
Research InstitutionYamagata University

Principal Investigator

Koyama Shingo  山形大学, 大学院医学系研究科, 非常勤講師 (30436208)

Co-Investigator(Kenkyū-buntansha) 佐藤 秀則  山形大学, 医学部, 助教 (60326030)
中島 修  山形大学, 医学部, 教授 (80312841)
Project Period (FY) 2018-04-01 – 2022-03-31
Project Status Completed (Fiscal Year 2021)
Budget Amount *help
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2020: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2019: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2018: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
Keywords正常圧水頭症 / モデルマウス / SFMBT1 / SFMBT1遺伝子
Outline of Final Research Achievements

Little is known about the pathophysiology of idiopathic normal pressure hydrocephalus (iNPH). There is no generally accepted murine model of this condition. We have reported that a copy number loss in the SFMBT1 gene is a genetic risk for iNPH. To examine the effect of SFMBT1 in the central nervous system, we generated Sfmbt1 knockout mice using CRISPR-Cas9 (clustered regularly Interspaced short palindromic repeats CRISPR-associated Proteins 9) system. We produced two different mouse lines heterozygous for the disrupted Sfmbt1 allele (one-base deletion in exon 4 and four-base deletion in exon 4, respectively).

Academic Significance and Societal Importance of the Research Achievements

iNPHの病態は未だ不明であるが、遺伝的背景を加味したiNPH疾患モデルマウスは存在していない。本研究では、疾患感受性遺伝子であるSFMBT1遺伝子に着目して遺伝的リスク因子を加味したiNPH疾患モデルマウスの作成を目指した。中枢神経におけるSFMBT1遺伝子のはたらきを明らかにするため、遺伝子編集技術によりSFMBT1遺伝子ノックアウトマウスの作成を行なった。このマウスを用いてiNPHの病態解明や新たな疾患感受性遺伝子の同定が期待できるものと考える。

Report

(5 results)
  • 2021 Annual Research Report   Final Research Report ( PDF )
  • 2020 Research-status Report
  • 2019 Research-status Report
  • 2018 Research-status Report

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Published: 2018-04-23   Modified: 2023-01-30  

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