| Project/Area Number |
26461297
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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 | Jichi Medical University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
嶋崎 晴雄 自治医科大学, 医学部, 准教授 (30316517)
直井 為任 自治医科大学, 医学部, 研究員 (30598694)
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | アレキサンダー病 / アストロサイト / GFAP / 脊髄小脳変性症 / 遺伝性痙性対麻痺 |
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| Outline of Final Research Achievements |
Alexander disease (AxD) is a unique monogenic glial cytopathy caused by mutations in GFAP, which is a specific marker of astrocytes. AxD is divided into three clinical subtype; 1) infantile type, 2) juvenile type, and 3) adult type. We performed the following three studies.
1. GFAP gene test: We tested 28 patients with neurodegenerative disorders for GFAP mutations, but in vain. 2. Identification of a novel disease-causing gene by whole-exome sequencing (WES): We performed WES in two members in a family with autosomal dominant transmission, adult-onset spastic paraplegia with leukodystrophy, and identified 66 candidate genes. 3. Cell biological study: We expressed wildtype and mutant GFAP with a tag-free vector in SW13 cells without intermediate filaments such as GFAP and vimentin, and observed the intracellular distribution of overexpressed GFAP. We found that more aggregations were formed in the mutation which would causes much severe clinical presentation.
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