Comprehensive analysis of the genes responsible for neuroacanthocytosis in psychiatric disorders

精神疾病中神经棘红细胞增多症基因的综合分析

• 批准号: 20390314
• 负责人: SANO Akira
• 金额: $ 11.98万
• 依托单位: Kagoshima University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (B)
• 财政年份: 2008
• 资助国家: 日本
• 起止时间: 2008 至 2010
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-20390314/
• 关键词: 有棘赤血球舞踏病; McLeod症候群; VPS13A; XK; 気分障害; 統合失調症; chorein; Huntington disease-like2; パントテンキナーゼ関連神経変性疾患; 統合失調症\; CNV; 上位運動ニューロン; chorea acanthocytosis; major depressive disorder; shizophrenia; copy number variation

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.

我们对情绪障碍和精神分裂症受试者分别进行了VPS13A和XK（舞蹈病棘红细胞增多症和McLeod综合征的基因）的全面突变筛查。我们发现存在几个患者的情绪障碍或精神分裂症携带杂合子，潜在的致病性突变的神经棘细胞症相关基因。提示神经棘细胞症相关基因可能参与了这些精神疾病的发病机制。使用小鼠脑和RBC血影分析相互作用蛋白的结果表明，细胞骨架蛋白可能与VPS13A产物chorein相互作用。

项目成果

Positive association of the PDE4B (phosphodiesterase 4B) gene with schizophrenia in the Japanese population.

• DOI: 10.1016/j.jpsychires.2008.01.013
• 发表时间: 2008-11
• 期刊: Journal of psychiatric research
• 影响因子: 4.8
• 作者: Shusuke Numata;S. Ueno;Jun‐ichi Iga;Hongwei Song;Masahito Nakataki;Shin'ya Tayoshi;Satsuki Sumitani;M. Tomotake;M. Itakura;A. Sano;T. Ohmori

NOVEL PATHOGENIC MUTATIONS AND COPY NUMBER VARIATIONS OF VPS13A IN PATIENTS WITH CHOREA-AC ANTHOCYTOSIS

舞蹈病-AC 花细胞增多症患者中 VPS13A 的新型致病性突变和拷贝数变异

• 发表时间: 2009
• 作者: Akiyuki Tomiyasu;Masayuki Nakamura;Nari Shiokawa;Hirochika Shimo;Mio Ichiba;Shu-ichi Ueno^2;Akira Sano
• 通讯作者: Akira Sano

Expression patterns in alternative splicing forms of prosaposin mRNA in the rat facial nerve nucleus after facial nerve transection

• DOI: 10.1016/j.neures.2007.09.010
• 发表时间: 2008-01-01
• 期刊: NEUROSCIENCE RESEARCH
• 影响因子: 2.9
• 作者: Chen, Jie;Saito, Shouichiro;Matsuda, Seiji
• 通讯作者: Matsuda, Seiji

神経有棘赤血球症

神经棘细胞增多症

• 发表时间: 2008
• 期刊: 脳と神経 60
• 作者: 市場美緒;中村雅之;佐野輝
• 通讯作者: 佐野輝

Neuroacanthocytosis Syndromes II Psychiatric Morbidity in Neuroacanthocytosis

神经棘细胞增多症综合征 II 神经棘细胞增多症的精神疾病发病率

• 发表时间: 2008
• 作者: 三好耕;他;Sano A.
• 通讯作者: Sano A.