Advancements in the use of induced pluripotent stem cells and gene editing technology to investigate the genetic etiology of congenital heart disease
10.3969/j.issn.1671-7856.2025.10.014
- VernacularTitle:iPSCs与基因编辑技术研究先天性心脏病遗传发病机制进展
- Author:
Yuanyuan WANG
1
;
Hongyan XU
;
Yuanyuan PEI
;
Fengxiang WEI
Author Information
1. 佳木斯大学基础医学院,黑龙江佳木斯 154007;深圳市龙岗区妇幼保健院中心试验室,广东 深圳 518174
- Publication Type:Journal Article
- Keywords:
CRISPR-Cas9;
human pluripotent stem cells;
congenital heart disease
- From:
Chinese Journal of Comparative Medicine
2025;35(10):140-148
- CountryChina
- Language:Chinese
-
Abstract:
Congenital heart disease(CHD)is the leading cause of mortality associated with birth defects.Whole-genome sequencing and whole-exome sequencing technologies have resulted in major advancements in our understanding of the genetics of CHD,and cell and animal models have emerged as reliable options for investigating 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.In addition,CRISPR-Cas9 gene editing tools enable the introduction or correction of variant genes in iPSCs,thus facilitating a more comprehensive exploration of variant pathogenicity and the molecular basis of CHD.This review considers the progress in understanding the genetic basis of CHD using genome sequencing,and explores how gene editing techniques and patient iPSCs contribute to this progress.We highlight the significance of combining these two approaches for disease research,providing valuable insights for clinical investigations on the mechanisms responsible for CHD.
