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- Material Type
- 文書・図像類
- Author/Editor
- 佐野, 輝
- Author Heading
- Publication, Distribution, etc.
- Alternative Title
- Comprehensive analysis of the genes responsible for neuroacanthocytosis in psychiatric disorders
- Text Language Code
- jpn
- Target Audience
- 一般
- Note (General)
- 2008-2010年度科学研究費補助金(基盤研究(B))研究成果報告書 課題番号：20390314 研究代表者：佐野輝 (京鹿児島大学大学院医歯学総合研究科教授)気分障害や統合失調症患者において神経有棘赤血球症(NA)関連遺伝子(VPS13AおよびXK)の包括的変異解析を行った。疾患変異の可能性がある変異をヘテロ接合性に持つ者を認めたことから、NA関連遺伝子はこれら精神疾患の病因に関与している可能性が示唆された。また、マウス脳や赤血球膜分画を用いたVPS13A遺伝子産物と相互作用するタンパク質を解析した結果、細胞骨格系のタンパク質の関与が示唆された。We performed a comprehensive mutation screen of VPS13A and XK, the gene responsible for chorea-acanthocytosis and McLeod syndrome, respectively, in mood disorder and schizophrenia subjects. We identified the existence of several patients with mood disorder or schizophrenia who carry heterozygous, potentially pathogenic mutations in neuroacanthocytosis-related genes. This suggests that neuroacanthocytosis-related-genes might be involved in the pathogenesis of these psychiatric disorders. The results of analyses of interacting protein using mouse brain and RBC ghost suggest that cytoskeletal proteins may interact with chorein, the VPS13A product.