Molecular pathogenetic mechanism of idiopathic cardiomyopathy

特发性心肌病的分子发病机制

• 批准号: 20790520
• 负责人: ARIMURA Takuro
• 金额: $ 2.75万
• 依托单位: Tokyo Medical and Dental University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Young Scientists (B)
• 财政年份: 2008
• 资助国家: 日本
• 起止时间: 2008 至 2009
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-20790520/
• 关键词: 特発性心筋症; 肥大型心筋症; 拡張型心筋症; 遺伝子変異; CARP; フクチン; PGM1; ZASP; Cypher; 心筋Z帯; 細胞ストレス; ラミンA; C; テストステロン; 心不全

Idiopathic cardiomyopathy (ICM) is heterogeneous myocardial disease associated with functional abnormalities of cardiomyocytes. The aim of this study was to investigate the novel molecular pathogenesis of ICM caused by the genetic abnormalities. As the results, it was identified that (1) mutations in genes encoding CARP and Fukutin are associated with dilated cardiomyopathy (DCM), and (2)ZASP/Cypher anchors PGM1 to Z-disc under conditions of stress and the impaired binding of PGM1 to ZASP/Cypher might be involved in the pathogenesis of DCM.

特发性心肌病（Idiopathic cardiomyopathy，ICM）是一种与心肌细胞功能异常相关的异质性心肌病。本研究的目的是探讨由遗传异常引起的ICM的新的分子发病机制。结果表明：（1）CARP和ZASP基因突变与扩张型心肌病（DCM）相关;（2）ZASP/Cypher在应激条件下将PGM 1锚定在Z盘上，PGM 1与ZASP/Cypher的结合受损可能参与DCM的发病机制。

项目成果

Cardiac ankyrin repeat protein gene (ANKRDI) mutations in hypertrophic cardiomyopathy

肥厚型心肌病中的心脏锚蛋白重复蛋白基因 (ANKRDI) 突变

• 期刊: J. Am. Coll. Cardiol (In press)
• 作者: Arimura T;et.al.
• 通讯作者: et.al.

Identification of a novel gene for hypertrophic cardiomyopathy.

肥厚型心肌病新基因的鉴定。

• 发表时间: 2009
• 作者: Arimura T;Bos JM;Sato A;Kubo T;Okamoto H;Nishi H;Harada H;Koga Y;Doi YL;Ackerman MJ;Kimura A
• 通讯作者: Kimura A

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Identification of Novel Disease Genes for Hypertrophic Cardiomyopathy

肥厚型心肌病新疾病基因的鉴定

• 发表时间: 2009
• 作者: 有村卓朗;et al.
• 通讯作者: et al.

Identification of Novel Disease Genes for Hereditary Cardiomyopathy.

遗传性心肌病新疾病基因的鉴定。

• 发表时间: 2008
• 作者: Arimura T;et.al.;有村卓朗;有村卓朗,et.al.;Arimura T
• 通讯作者: Arimura T