2021 Fiscal Year Final Research Report

Research and development of therapeutic methods for Fukuyama congenital muscular dystrophy focusing on central nervous system dysfunction

Research Project

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Project/Area Number	19K08346
Research Category	Grant-in-Aid for Scientific Research (C)
Allocation Type	Multi-year Fund
Section	一般
Review Section	Basic Section 52050:Embryonic medicine and pediatrics-related
Research Institution	Tottori University
Principal Investigator	Okazaki Tetsuya 鳥取大学, 医学部附属病院, 助教 (30465299)
Co-Investigator(Kenkyū-buntansha)	檜垣克美鳥取大学, 研究推進機構, 准教授 (90294321) 難波栄二鳥取大学, 研究推進機構, 教授 (40237631) 足立香織鳥取大学, 研究推進機構, 助教 (50609237)
Project Period (FY)	2019-04-01 – 2022-03-31
Keywords	福山型筋ジストロフィー
Outline of Final Research Achievements	Central nervous system symptoms are known for Fukuyama congenital muscular dystrophy (FCMD). It is considered that the muscle tissue of FCMD model mice has a dysfunction of mTOR pathway, and there is a research report that administration of an mTOR inhibitor showed histological improvement of the muscle. It is possible that mTOR pathway dysfunction are also involved in FCMD central nervous system disorders, and the purpose of this study was to elucidate the involvement of mTOR pathway abnormalities in central nervous system and to link them to the development of therapeutic methods. We tried to elucidate the FKTN gene of SH-SY5Y cells by knocking it down with siRNA, but we could not demonstrate it by any method other than immunostaining. In addition to the possibility that there are no abnormalities in the central nervous system, problems with experimental subjects such as model cells were also raised as issues.
Free Research Field	小児神経
Academic Significance and Societal Importance of the Research Achievements	中枢神経ではなく筋組織でmTOR異常を示した報告は新たにみられている（Experimental Physiology. 2020）。今回、福山型筋ジストロフィーの中枢神経症状におけるmTOR異常の関与につき細胞実験での実証を試みるも確認ができなかった。これまでの実験を踏まえ、モデル細胞等実験対象の検討が課題として挙がると考えている。