Elucidation of the mechanism of dystonia development using animal model and attempts to restore the symptoms
Project/Area Number |
18H02592
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Research Category |
Grant-in-Aid for Scientific Research (B)
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Allocation Type | Single-year Grants |
Section | 一般 |
Review Section |
Basic Section 48010:Anatomy-related
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Research Institution | Niigata University |
Principal Investigator |
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Co-Investigator(Kenkyū-buntansha) |
佐野 裕美 生理学研究所, システム脳科学研究領域, 助教 (00363755)
黒瀬 雅之 岩手医科大学, 歯学部, 教授 (40397162)
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Project Period (FY) |
2018-04-01 – 2021-03-31
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Project Status |
Completed (Fiscal Year 2021)
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Budget Amount *help |
¥17,420,000 (Direct Cost: ¥13,400,000、Indirect Cost: ¥4,020,000)
Fiscal Year 2020: ¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2019: ¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2018: ¥7,410,000 (Direct Cost: ¥5,700,000、Indirect Cost: ¥1,710,000)
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Keywords | 不随意運動 / Dst-b / 遺伝性感覚性自律神経性ニューロパチー / 筋原線維性ミオパチー(MFM) / ジストニン / ジストニア / dystonia / 神経回路 / 筋肉 / dystonin / Dystonin / Bpag1 |
Outline of Final Research Achievements |
In this study, we generated genetically engineered mice specific for the muscle-type dystonin gene (Dst-b), which results in late-onset myofibrillary myopathy. These results suggest the existence of an unidentified inherited muscle disease. We further investigated the neural factors in dystonin mutant mice by generating conditional knockout and conditional rescue mice. The results revealed that dystonin expression in peripheral nervous system plays an important role in sensory neuron degeneration and the appearance of motor symptoms.
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Academic Significance and Societal Importance of the Research Achievements |
ヒトのジストニン遺伝子の変異により、遺伝性感覚性自律神経性ニューロパチーVI型(HSAN6)が発症することが知られており、ジストニン変異マウスはHSAN6の良いモデル動物である。従って、本研究で得られた成果は、遺伝性神経疾患HSAN6の治療法開発の基盤となる。また、筋肉型ジストニン(DST-b)の変異により筋原線維性ミオパチーなどの病態を示す患者が将来見出されて、新たなヒト遺伝病の同定につながる可能性がある。
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Report
(4 results)
Research Products
(58 results)
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[Journal Article] Disruption of dystonin in Schwann cells results in late-onset neuropathy and sensory ataxia2020
Author(s)
Horie M, Yoshioka N, Kusumi S, Sano H, Kurose M, Watanabe-Iida I, Hossain MI, Chiken S, Abe M, Yamamura K, Sakimura K, Nambu A, Shibata M, Takebayashi H
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Journal Title
Glia
Volume: -
Issue: 11
Pages: 2330-2344
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Diverse mutations in dystonin gene cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in dystonia musculorum mice.2020
Author(s)
Yoshioka N, Kabata Y, Kuriyama M, Bizen N, Zhou L, Tran MD, Yano M, Yoshiki A, Ushiki T, Sproule TJ, Abe R, Takebayashi H
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Journal Title
Disease Models and Mechanisms
Volume: 13
Issue: 5
Pages: 041608-041608
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Glial pathology in a novel spontaneous mutant mouse of the Eif2b5 gene: a vanishing white matter disease model.2019
Author(s)
Terumitsu-Tsujita M, Kitaura H, Miura I, Kiyama Y, Goto F, Muraki Y, Ominato S, Hara N, Simankova A, Bizen N, Kashiwagi K, Ito T, Toyoshima Y, Kakita A, Manabe T, Wakana S, Takebayashi H, Igarashi H
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Journal Title
Journal of Neurochemistry
Volume: jnc.14887
Issue: 1
Pages: 1-16
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Olig2 regulates terminal differentiation and maturation of peripheral olfactory sensory neurons2019
Author(s)
Wang YZ, Fan H, Ji Y, Reynolds K, Gu R, Gan Q, Yamagami T, Zhao T, Hamad S, Bizen N, Takebayashi H, Chen Y, Wu S, Pleasure D, Lam K, Zhou CJ
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Journal Title
Cellular and Molecular Life Sciences
Volume: -
Issue: 18
Pages: 3597-3609
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] Reciprocal connectivity between secondary auditory cortical field and amygdala in mice.2019
Author(s)
Tsukano H, Hou X, Horie M, Kitaura H, Nishio N, Hishida R, Takahashi K, Kakita A, Takebayashi H, Sugiyama S, Shibuki K
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Journal Title
Sci Rep.
Volume: 9
Issue: 1
Pages: 19610-19610
DOI
Related Report
Peer Reviewed / Open Access
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[Presentation] A novel spontaneous mouse mutant of the Eif2b5 gene.2019
Author(s)
Mika Terumitsu-Tsujita, Hiroki Kitaura, Ikuo Miura, Yuji Kiyama, Fumiko Goto, Yoshiko Muraki, Shiho Ominato, Norikazu Hara, Anna Simankova, Norihisa Bizen, Kazuhiro Kashiwagi, Takuhiro Ito, Yasuko Toyoshima, Akiyoshi Kakita, Toshiya Manabe, Shigeharu Wakana, Hirohide Takebayashi, Hironaka Igarashi
Organizer
14th Biennial ISN satellite meeting on Myelin Biology
Related Report
Int'l Joint Research
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