| Project/Area Number |
18K07606
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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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| Review Section |
Basic Section 52030:Psychiatry-related
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| Research Institution | Kagoshima University |
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Principal Investigator |
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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 |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2020: ¥390,000 (Direct Cost: ¥300,000、Indirect Cost: ¥90,000)
Fiscal Year 2019: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2018: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
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| Keywords | 神経有棘赤血球症 / 有棘赤血球舞踏病 / McLeod症候群 / chorein / VPS13A / XK / XK蛋白質 / ミトコンドリア品質保持 / 細胞骨格 |
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| Outline of Final Research Achievements |
Neuroacanthocytosis (NA) is used to describe a condition that combines neurological symptoms and acanthocytosis. The core group of NA is represented by chorea-acanthocytosis (ChAc) and McLeod syndrome (MLS). ChAc is caused by a loss-of-function mutation in the VPS13A gene, resulting in loss of the gene product chorein, and MLS is caused by a loss-of-function mutation in the XK gene on the X chromosome, resulting in loss of the XK protein. In all six MLS cases, chorein expression was decreased in the erythrocyte membrane fraction, and the interaction between XK protein and chorein was indicated in cultured cells, suggesting that disruption of the cytoskeletal interaction and the mitochondrial quality maintenance mechanism of chorein are common molecular pathogenesis of NA.
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| Academic Significance and Societal Importance of the Research Achievements |
神経有棘赤血球症の代表疾患である有棘赤血球舞踏病とMcLeod症候群は臨床症状が酷似しており、両疾患ともにハンチントン病類似の精神神経症状と末梢血赤血球に有棘赤血球症を呈し、共通する分子病態の存在が示唆される。これら疾患の共通分子病態を明らかにすることによって、両疾患に共通する治療法の開発の足掛かりとなり、両疾患は高率に精神症状を来すことから、精神疾患の病態解明や治療法開発の一助にもなる。
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