Acta Scientific Medical Sciences (ASMS)(ISSN: 2582-0931)

Review Article Volume 9 Issue 2

Crucial Genes in Cardiogenesis: Their Role in Congenital Heart Disease

Majed Alsulami1*, Mahmood Rasool2 and Isam M Abu Zeid1,3,4

1Department of Biological Sciences, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia
2Institute of Genomic Medicine Sciences, King Abdulaziz University, Jeddah, Saudi Arabia
3Centre of Excellence in Bionanoscience, King Abdulaziz University, Jeddah, Saudi Arabia
4Princess Doctor Najla Bint Saud Al Saud Distinguished Research Center for Biotechnology, King Abdulaziz University, Jeddah, Saudi Arabia

*Corresponding Author: Majed Alsulami, Department of Biological Sciences, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia.

Received: February 25, 2025; Published: February 28, 2025

Abstract

Congenital heart diseases (CHDs) arise from anatomical abnormalities in the heart and major blood vessels during fetal development, significantly impacting morbidity and mortality rates globally. Key genes play crucial roles in cardiogenesis and the pathogenesis of CHD. Notable among these are NKX2-5, GATA4, TBX1, TBX5, and KDM6A. NKX2-5 is essential for cardiac morphogenesis and is linked to various defects, including atrial septal defects. GATA4 acts as a powerful activator of cardiac genes and works in conjunction with NKX2-5 to initiate cardiogenesis; variants in this gene are associated with multiple CHDs. TBX1 and TBX5 are critical for proper cardiovascular development, with mutations resulting in significant phenotypes characteristic of specific syndromes. KDM6A, a histone demethylase, regulates gene expression during embryonic development and is implicated in CHD through its role in essential signaling pathways. Understanding these genes enhances the knowledge of CHD mechanisms, paving the way for personalized treatment strategies and improved clinical outcomes. Continued research into the genetic basis of CHD is vital for developing effective interventions and providing better genetic counseling for affected families.

Keywords: Congenital heart diseases (CHDs); RNA; GATA4

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Citation

Citation: Majed Alsulami., et al. “Crucial Genes in Cardiogenesis: Their Role in Congenital Heart Disease”.Acta Scientific Medical Sciences 9.3 (2025): 112-118.

Copyright

Copyright: © 2025 Majed Alsulami., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.




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