遗传 ›› 2019, Vol. 41 ›› Issue (5): 375-383.doi: 10.16288/j.yczz.19-044

• 综述 • 上一篇    下一篇

转录因子GATA6在心血管疾病中的作用及其调控机制

孙兆庆1,闫波2,3,4()   

  1. 1. 山东大学齐鲁医学院,济南 250012
    2. 济宁医学院附属医院,山东省心脏疾病诊疗重点实验室,济宁 272029
    3. 济宁医学院附属医院,心血管疾病分子遗传学中心,济宁 272029
    4. 济宁医学院附属医院,山东省中美转化医学合作研究中心,济宁 272029
  • 收稿日期:2019-02-21 修回日期:2019-03-18 出版日期:2019-05-20 发布日期:2019-05-06
  • 通讯作者: 闫波 E-mail:yanbo@mail.jnmc.edu.cn
  • 作者简介:孙兆庆,在读硕士研究生,专业方向：心血管病专业。E-mail: sunzhq01@163.com
  • 基金资助:
    国家自然科学基金(81370271);国家自然科学基金(81400291);国家自然科学基金(81670341);国家自然科学基金(81870279)

The roles and regulation mechanism of transcription factor GATA6 in cardiovascular diseases

Zhaoqing Sun1,Bo Yan2,3,4()   

  1. 1. Cheeloo College of Medicine, Shandong University, Jinan 250012, China
    2. Shandong Provincial Key Laboratory of Cardiac Disease Diagnosis and Treatment, Affiliated Hospital of Jining Medical University, Jining 272029, China
    3. The Center for Molecular Genetics of Cardiovascular Diseases, Affiliated Hospital of Jining Medical University, Jining 272029, China
    4. Shandong Provincial Sino-US Cooperation Research Center for Translational Medicine, Affiliated Hospital of Jining Medical University, Jining 272029, China
  • Received:2019-02-21 Revised:2019-03-18 Online:2019-05-20 Published:2019-05-06
  • Contact: Yan Bo E-mail:yanbo@mail.jnmc.edu.cn
  • Supported by:
    National Natural Science Foundation of China(81370271);National Natural Science Foundation of China(81400291);National Natural Science Foundation of China(81670341);National Natural Science Foundation of China(81870279)

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摘要：

GATA 转录因子家族由6个成员组成(GATA1~GATA6),在参与调节多种细胞的生长和分化、细胞的存活以及机体功能的维持等方面具有着重要作用。转录因子GATA6属于GATA家族的一员,目前的研究已经证实GATA6在人类心脏分化发育过程中起着至关重要的作用。其基因突变不仅能引起多种先天性心脏疾病,还能干扰心脏传导系统而促发心律失常,同时也是扩张性、肥厚性心肌病发病的遗传因素。此外,转录因子GATA6与临床中最为常见的冠心病也有一定的关联性,由于体内存在多基因联合作用,使得两者之间的关系变得更为复杂。本文主要综述了转录因子GATA6在先天性心脏病、心脏传导系统、心肌病、心血管病相关危险因素以及其他类心血管疾病等方面的研究进展,以期为未来的个体化基因治疗提供遗传学基础,并能促进基础研究向临床医学转化的发展。

关键词: 转录因子GATA6, 心血管疾病, 基因突变, 分子遗传学

Abstract:

The GATA transcription factor family consists of six members, GATA1 through GATA6, which play important roles in the regulation of cell growth and differentiation, cell survival, and maintenance of body functions. Current studies regarding GATA6 transcription factor confirm that GATA6 plays a crucial role in the differentiation, development, and function of the human heart. Genetic mutations of GATA6 are associated with a variety of congenital heart diseases, dysfunction of the cardiac conduction system causing various arrhythmias, coronary artery disease, and dilated and hypertrophic cardiomyopathies. The relationship between GATA6 and the human heart is also impacted by multiple other genes and interactions in the body. In this review, we summarize the research and current knowledge of the GATA6 transcription factor related to the human heart and multiple pathologies which provides understanding of its genetic basis to enable future personalized gene therapy and to promote the development and incorporation of basic research into clinical medicine.

Key words: transcription factor GATA6, cardiovascular disease, gene mutation, molecular genetics