Genetic analysis study of syringomyelia
| Project/Area Number |
17K09771
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Neurology
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| Research Institution | Hokkaido University |
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Principal Investigator |
Sasaki Hidenao 北海道大学, 医学研究院, 名誉教授 (80281806)
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| Co-Investigator(Kenkyū-buntansha) |
矢部 一郎 北海道大学, 医学研究院, 准教授 (60372273)
関 俊隆 北海道大学, 大学病院, 助教 (80241446)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Project Status |
Completed (Fiscal Year 2019)
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| Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2019: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2018: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2017: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Keywords | 遺伝子 / ゲノム / 神経疾患 |
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| Outline of Final Research Achievements |
Since syringomyelia is often associated with posterior fossa and spinal deformities such as Chiari malformation, it is estimated that some genetic factors may be involved in its onset. Therefore, in order to clarify the frequency and clinical features of familial syringomyelia in Japan, we targeted 4,158 departments advocating neurology, neurosurgery, orthopedics, and pediatrics nationwide. An epidemiological survey was conducted. As a result, responses were received from 2,791 facilities (recovery rate: 67.1%). A secondary survey was conducted at a facility that responded that they had experience of treating familial syringomyelia, and five families were found to have familial syringomyelia. Based on the results, we proceeded with the gene analysis study of this disease.
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| Academic Significance and Societal Importance of the Research Achievements |
本邦における家族性脊髄空洞症の存在を明らかにし、その結果を踏まえて素因遺伝子解析研究を進捗させた。脊髄空洞症の発症原因は未解明であり、手術療法は確立されているものの、疼痛を中心とした感覚障害が後遺症として残存する症例も多く、病態解明とともに治療法開発が期待されている。家族内発症例があることから遺伝要因が関与していることは明らかであるが、世界的に見てもまだ素因遺伝子は見出されていない。素因遺伝子を見出すことができればその遺伝子が新規治療法開発の契機となることが予想される。まだ結論はでていないが、生体試料収集は継続しており、近い将来における病態解明や治療法開発研究の進展が期待される。
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Report
(4 results)
Research Products
(3 results)
