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2021 Fiscal Year Final Research Report

Analysis of disease mechanism and discovery of novel treatment for neurofibromatosis type 2 using patient-derived induced pluripotent stem cell

Research Project

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Project/Area Number 19K09519
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 56010:Neurosurgery-related
Research InstitutionHokkaido University

Principal Investigator

Shunsuke Terasaka  北海道大学, 医学研究院, 客員研究員 (10447055)

Co-Investigator(Kenkyū-buntansha) 江良 択実  熊本大学, 発生医学研究所, 教授 (00273706)
伊師 雪友  北海道大学, 医学研究院, 客員研究員 (30812284)
小林 浩之  北海道大学, 医学研究院, 客員研究員 (70374478)
山口 秀  北海道大学, 大学病院, 講師 (70399939)
Project Period (FY) 2019-04-01 – 2022-03-31
Keywords神経線維腫症2型 / NF2 / iPS細胞 / 人工多能性幹細胞
Outline of Final Research Achievements

We established patient-derived iPS cell using peripheral blood mononuclear cells harvested from 5 patients with neurofibromatosis type 2 (NF2). Expression of stem cell markers were observed in all of established iPSC lines. In a case with NF2 mosaicism, presence or absence of NF2 mutation differed between iPSC clones, while expression of genes in pathways associated with NF2 gene were not different between these iPSC clones, which suggested that biallelic inactivation of NF2 is necessary for tumorigenesis in NF2 patient. We tried to establish in vitro model of schwannoma by differentiation induction for shcwann cell, but it was failed to differentiate neural crest to schwann cell using iPSC derived from healthy human.

Free Research Field

脳神経外科

Academic Significance and Societal Importance of the Research Achievements

本研究では神経線維腫症2型(NF2)患者由来iPS細胞株の樹立を行った。体細胞モザイクの症例から樹立したiPS細胞ではNF2遺伝子の変異の有無がクローン毎に異なりドナーにおける遺伝子変異の分布が受け継がれていると考えられた。しかしNF2遺伝子に関連したシグナル経路の遺伝子発現はクローン間で差を認めず、NF2遺伝子の両側アレルの機能不活性化が、腫瘍発生に必須であることが示された。今後はシュワン細胞への分化誘導条件を検討することで、NF2における腫瘍発生のメカニズムや新規治療法を探索するためのソースとなりうる。

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Published: 2023-01-30  

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