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- Material Type
- 文書・図像類
- Author/Editor
- 中村, 雅之
- Author Heading
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- Alternative Title
- Copy number variation analysis of chorea-acanthocytosis gene in psychiatric disorders
- Text Language Code
- jpn
- Subject Heading
- Target Audience
- 一般
- Note (General)
- 2009-2011年度科学研究費助成事業(科学研究費補助金(基盤研究(C)))研究成果報告書 課題番号：21591488 研究代表者：中村雅之 (鹿児島大学医学部・歯学部附属病院講師)有棘赤血球舞踏病遺伝子を包括的な遺伝子変異解析を行ったところ、気分障害にのみ存在するコピー数変異や機能変化を来す可能性がある変異を認めた。赤血球や同遺伝子産物choreinを高発現させた培養細胞において、choreinと細胞骨格系の分子と相互作用が示唆される結果を得た。これらの機能関連が破綻することにより有棘赤血球舞踏病や気分障害が引き起こされる可能性が示唆された。We performed a comprehensive mutation screen of chorea-acanthocytosis (ChAc) gene and identified pathogenic copy number variation and a potentially functional variant in mood disorder subjects. The results of protein analysis of erythrocyte and cultured cell line highly expressing chorein suggest that chorein may interact with cytoskeletal proteins and disruption of these interaction may lead to ChAc or mood disorders.