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2020 Fiscal Year Final Research Report

Elucidation of the causative neural circuits in Dystonin conditional mice

Research Project

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Project/Area Number 17K08488
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field General anatomy (including histology/embryology)
Research InstitutionNiigata College of Nursing (2019-2020)
Kagoshima University (2017-2018)

Principal Investigator

Horie Masao  新潟県立看護大学, 看護学部, 教授 (70322716)

Project Period (FY) 2017-04-01 – 2021-03-31
Keywordsジストニン / マウス / ジストニア
Outline of Final Research Achievements

The Dystonin gene (Dst) is responsible for dystonia musculorum (dt), an inherited mouse model of hereditary neuropathy accompanied by progressive motor symptoms such as dystonia. We examined Dst-deficient mice that showed motor abnormalities in homozygous dt23Rbrc/dt23- Rbrc mice are not as severe as homozygous DstGt/DstGt mice.Histological analyses showed abnormal neurofilament(NF) accumulation in the nervous system of homozygous dt23Rbrc/dt23Rbrc mice, which is characteristic of the dt phenotype. We mapped the distribution of abnormal NF-accumulated neurons in the brain and found that theywere located specifically in the brainstem, spinal cord, and in regions such as the vestibular nucleus, reticular nucleus, and red nucleus, which are implicated in posture and motor coordination pathways. which causes histological abnormalities in the central nervous system that may account for the abnormal motor phenotype.

Free Research Field

神経解剖学

Academic Significance and Societal Importance of the Research Achievements

本研究の結果は、(1)シュワン細胞におけるはDstタンパクの不活性化はジストニア様症状の直接的な原因ではないが、歩様異常の原因となること、(2)全身性ジストニア様症状発症には、シュワン細胞でのDstタンパクの不活性化に加えて、他の末梢神経あるいは中枢神経においてもDstタンパクの不活性化が必要であることが示唆している。これらの知見は、今後の神経難病であるジストニアの治療法の開発研究に一歩になる。

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Published: 2022-01-27  

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