IPSC与基因编辑技术研究先天性心脏病遗传发病机制进展
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佳木斯大学

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Advancements in utilizing IPSC and gene editing technology to comprehend the genetic etiology underlying congenital heart disease
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1.College of Basic Medicine, Jiamusi University,;2.Jiamusi University

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    摘要:

    先天性心脏病(Congenital heart diseases , CHD)是出生缺陷死亡相关的主要原因。通过全基因组测序(Whole Genome Sequencing, WGS)和全外显子测序(Whole Exome Sequencing, WES)技术,CHD的遗传学取得了较好的进展。为了解CHD具体遗传机制和遗传因素,细胞和动物模型成为更可靠的选择。人类诱导多功能干细胞(human pluripotent stem cells, iPSCs)为该研究提供了新的思路,利用患者特异性iPSCs诱导成心肌细胞,从而进行相关研究。使用CRISPR-Cas9基因编辑工具,引入转基因动物,同时可对iPSCs进行变异基因纠正或引入,更好的探究变异的致病性和CHD的分子基础。该综述中,我们讨论了通过基因组测序的CHD的遗传学进展,同时探讨基因编辑和患者iPSCs如何在CHD遗传机制的研究中发挥作用,且两者相互结合后对疾病研究的意义,从而为临床研究CHD机制提供参考。

    Abstract:

    Congenital heart diseases (CHD) are the leading cause of mortality associated with birth defects. Significant advancements have been made in comprehending the genetics of CHD through Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) technologies. Cell and animal models have emerged as reliable choices to gain insights into the specific genetic mechanisms and factors underlying CHD. Human induced pluripotent stem cells (iPSCs) offer a novel approach for studying CHD by generating patient-specific iPSC-derived cardiomyocytes for related research. The utilization of CRISPR-Cas9 gene editing tools enables the introduction or correction of variant genes in iPSCs, facilitating a more comprehensive exploration of variant pathogenicity and molecular basis in CHD. In this review, we discuss the genetic progress achieved through genome sequencing in relation to CHD while also exploring how gene editing techniques and patient iPSCs contribute to our understanding of the genetic mechanisms underlying CHD. We highlight the significance of combining these two approaches for disease research, providing valuable insights for clinical investigations on the mechanism behind CHD.

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历史
  • 收稿日期:2025-01-02
  • 最后修改日期:2025-07-13
  • 录用日期:2025-09-23
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