| Project/Area Number |
18K16575
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 56010:Neurosurgery-related
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| Research Institution | Tokyo Women's Medical University |
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Principal Investigator |
Horisawa Shiro 東京女子医科大学, 医学部, 助教 (10746796)
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| Project Period (FY) |
2018-04-01 – 2021-03-31
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| Project Status |
Completed (Fiscal Year 2020)
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| Budget Amount *help |
¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000)
Fiscal Year 2019: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2018: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | ジストニア / アリルサルファターゼG遺伝子 |
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| Outline of Final Research Achievements |
We tested 24 patients with task specific focal dystonia for changes in Arylsulfatase G(ARSG) and other dystonia-related genes. 6 patients showed genetic variants indicating Combined Annotation-Dependent Depletion score of 10 or higher. ARSG mutations in exon 5 (Ala180Val) and exon 6 (Arg233His) in 2 patients and THAP1 muation in exon 1 (Gln3Pro) in 1 patient were confirmed. Task specific oral dystonia (Embouchure dystonia) showed DRD mutation in exon 2 (Val200Ala). Task specific focal dystonia can be an initial symptom of hereditary generalized dystonia. Confirmation of genetic mutations related to dystonia is a useful of prognostic prediction and treatment strategy.
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| Academic Significance and Societal Importance of the Research Achievements |
動作特異的局所ジストニアでは、アリルサルファターゼG遺伝子変異を持つ頻度は低く、その他の遺伝子変異が関与している可能性がある。また、遺伝性全身性ジストニアの初発症状として、動作特異的局所ジストニアが出現することがある。幅広いジストニア関連遺伝子を検索することは、疾患の予後予測や治療方針の検討に有用である。
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