朱业,顾翔.NKx2.5基因的生物学特征及在心脏发育中作用机制的研究进展[J].中华老年多器官疾病杂志,2022,21(4):305~308 |
NKx2.5基因的生物学特征及在心脏发育中作用机制的研究进展 |
Biological characteristics of NKx2.5 and mechanism of its roles in cardiac development |
投稿时间:2021-01-11 |
DOI:10.11915/j.issn.1671-5403.2022.04.065 |
中文关键词: 心脏发育 转录因子 基因突变 |
英文关键词:cardiac development transcription factor genetic mutations This work was supported by the National Natural Science Foundation for Young Scholars of China |
基金项目:国家自然科学基金青年科学基金(81800250) |
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中文摘要: |
NKx2.5基因是目前发现最早的与心脏发育和成熟相关的转录因子,会影响胚胎心脏发育异常,最终可能导致异常的心脏结构和传导功能受阻,甚至死亡。本文综述了NKx2.5基因的生物学特征及其在心脏发育中的作用机制,NKx2.5基因在心脏发育过程中与其他转录因子发挥协同作用,共同促进心肌细胞的发育。早期进行NKx2.5基因检测将有助于筛查遗传性先天性心脏病,预防心动过缓或过速导致的心源性猝死。 |
英文摘要: |
NK2 homeobox 5 (NKx2.5) is an earliest transcription factor related to the development and maturation of the heart, which may affect the abnormal development of the embryonic heart, and ultimately lead to the abnormal cardiac structure and conduction function, or even death. In this article, we review the biological characteristics of NKx2.5 and its mechanism of action in cardiac development, and introduce the newly discovered mutations in patients in recent years. The gene acts synergistically with other transcription factors during heart development to promote the development of precursor cardiomyocytes. Early detection of the gene will help to screen hereditary congenital heart disease and prevent sudden cardiac death caused by bradycardia or tachycardia. |
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