Molecular genetics of atrial fibrillation and evaluation of upstream therapy for atrial fibrillation

房颤的分子遗传学及房颤上游治疗的评价

• 批准号: 19790520
• 负责人: HAYASHI Kenshi
• 金额: $ 2.48万
• 依托单位: Kanazawa University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Young Scientists (B)
• 财政年份: 2007
• 资助国家: 日本
• 起止时间: 2007 至 2009
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-19790520/
• 关键词: 心臓病態学; 内科; 遺伝子; 循環器・高血圧; 不整脈; 心房細動; アップストリーム治療

Atrial fibrillation (AF) has an enormous social impact because of its very high incidence, its potential for devastating clinical consequences, and the difficulty of its management . Hypertrophic cardiomyopathy (HCM) is well known risk factor for AF. However, significant proportions of patients, up to 30% in some large studies, develop AF in the absence of risk factors. We performed genetic analysis for 75 patients with lone or familial AF, and identified 3 mutations. We also clarified that the HCM patients with angiotensinogen 1 A/C polymorphism, TNNT2 mutation, or TNNI3 mutation easily develop AF compared to those without these polymorphism or mutations.

心房颤动(房颤)具有巨大的社会影响，因为它的发病率非常高，其潜在的破坏性临床后果，并对其管理的困难。肥厚型心肌病(HCM)是公认的房颤危险因素。然而，在一些大型研究中，有相当比例的患者在没有危险因素的情况下发生房颤，比例高达30%。我们对75例孤立性或家族性房颤患者进行了基因分析，发现了3个突变。我们还阐明了具有血管紧张素原1A/C多态、TNNT2突变或TNNI3突变的肥厚性心肌病患者与没有这些多态或突变的患者相比更容易发生房颤。

项目成果

Prevalence of Long QT Syndrome and Frequencies of Gene Mutation Carriers in Japanese Children

日本儿童长 QT 综合征的患病率和基因突变携带者频率

• 发表时间: 2008
• 作者: Funada A;Ino H;Fujino N;Hayashi K;Uchiyama K;Sakata K;Masuta E;Fujita T;Sakamoto Y;Tsubokawa T;Yamagishi M.;舟田晃;林 研至
• 通讯作者: 林 研至

Impact of combined risk factors on reduction of cardiac repolarization reserve associated with acquired abnormal QT prolongation and torsade de pointes

联合危险因素对与获得性异常 QT 延长和尖端扭转型室性心动过速相关的心脏复极储备减少的影响

• 发表时间: 2008
• 作者: Funada A;Ino H;Fujino N;Hayashi K;Uchiyama K;Sakata K;Masuta E;Fujita T;Sakamoto Y;Tsubokawa T;Yamagishi M.;舟田晃;林 研至;林研至
• 通讯作者: 林研至

HERG potassium channel activators increase IKr in HL-1 cardiomyocytes and may prevent the cccurrence of Torsades de Pointes in long QT syndrome

HERG 钾通道激活剂可增加 HL-1 心肌细胞中的 IKr，并可能预防长 QT 综合征中尖端扭转型室速的发生

• 发表时间: 2009
• 作者: 舟田晃;藤野陽;林研至;井野秀 一;山岸正和;Hayashi K
• 通讯作者: Hayashi K

Long QT syndrome and associated gene mutation carriers in Japanese children: results from ECG screening examinations

• DOI: 10.1042/cs20080528
• 发表时间: 2009-12-01
• 期刊: CLINICAL SCIENCE
• 影响因子: 6
• 作者: Hayashi, Kenshi;Fujino, Noboru;Yamagishi, Masakazu
• 通讯作者: Yamagishi, Masakazu

Impact of troponin-gene mutations on occurrence of atrial fibrillation and development of left atrial dilatation in hypertrophic cardiomyopathy

肌钙蛋白基因突变对肥厚型心肌病心房颤动发生及左心房扩张的影响

• 发表时间: 2009
• 作者: Funada A;Ino H;Fujino N;Hayashi K;Uchiyama K;Masuta E;Sakamoto Y;Tsubokawa T;Muramoto A;Yamagishi M
• 通讯作者: Yamagishi M