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Current genetic models for studying congenital heart diseases: Advantages and disadvantages



Ayat Shorbaji1, Peter Natesan Pushparaj2, Sherin Bakhashab1,2, Ayat B Al-Ghafari1,3, Rana R Al-Rasheed4, Loubna Siraj Mira2, Mohammad Abdullah Basabrain2, Majed Alsulami2,5, Isam M. Abu Zeid5, Muhammad Imran Naseer2 & Mahmood Rasool2,*



1Biochemistry Department, King Abdulaziz University, Jeddah, Saudi Arabia; 2Center of Excellence in Genomic Medicine Research, Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia; 3Experimental Biochemistry Unit, King Fahd Medical Research Center, King Abdulaziz University, Jeddah, Saudi Arabia; 4Experimental Biochemistry Unit, King Fahad research Center, King Abdulaziz University, Jeddah, Saudi Arabia. 5Department of Biological Sciences, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia; *Corresponding Author



Ayat Shorbaji - E-mail: ashorbaji@kau.edu.sa

Sherin Bakhashab - E-mail: sbakhashab@kau.edu.sa

Peter Natesan Pushparaj - E-mail: pnatesan@kau.edu.sa

Ayat B Al-Ghafari - E-mail: abalghafari@kau.edu.sa

Rana R Al-Rasheed - E-mail: ranaalrasheed@hotmail.com

Loubna Siraj Mira - E-mail: lobnamira@hotmail.com

Mohammad Abdullah Basabrain - E-mail: mohammad.basabrain@gmail.com

Majed Alsulami - E-mail: malsulami0652@stu.kau.edu.sa

Isam M. Abu Zeid - E-mail: ialmuan@kau.edu.sa

Muhammad Imran Naseer - E-mail: mimrannaseer@yahoo.com

Mahmood Rasool - E-mail: mahmoodrasool@yahoo.com; mrahmed1@kau.edu.sa


Article Type

Research Article



Received May 1, 2024; Revised May 31, 2024; Accepted May 31, 2024, Published May 31, 2024



Congenital heart disease (CHD) encompasses a diverse range of structural and functional anomalies that affect the heart and the major blood vessels. Epidemiological studies have documented a global increase in CHD prevalence, which can be attributed to advancements in diagnostic technologies. Extensive research has identified a plethora of CHD-related genes, providing insights into the biochemical pathways and molecular mechanisms underlying this pathological state. In this review, we discuss the advantages and challenges of various in vitro and in vivo CHD models, including primates, canines, Xenopus frogs, rabbits, chicks, mice, Drosophila, zebrafish, and induced pluripotent stem cells (iPSCs). Primates are closely related to humans but are rare and expensive. Canine models are costly but structurally comparable to humans. Xenopus frogs are advantageous because of their generation of many embryos, ease of genetic modification, and cardiac similarity. Rabbits mimic human physiology but are challenging to genetically control. Chicks are inexpensive and simple to handle; however, cardiac events can vary among humans. Mice differ physiologically, while being evolutionarily close and well-resourced. Drosophila has genes similar to those of humans but different heart structures. Zebrafish have several advantages, including high gene conservation in humans and physiological cardiac similarities but limitations in cross-reactivity with mammalian antibodies, gene duplication, and limited embryonic stem cells for reverse genetic methods. iPSCs have the potential for gene editing, but face challenges in terms of 2D structure and genomic stability. CRISPR-Cas9 allows for genetic correction but requires high technical skills and resources. These models have provided valuable knowledge regarding cardiac development, disease simulation, and the verification of genetic factors. This review highlights the distinct features of various models with respect to their biological characteristics, vulnerability to developing specific heart diseases, approaches employed to induce particular conditions, and the comparability of these species to humans. Therefore, the selection of appropriate models is based on research objectives, ultimately leading to an enhanced comprehension of disease pathology and therapy.



Congenital heart disease, in vivo models, in vitro models, genetic mutations.



Shorbaji et al. Bioinformation 20(5): 415-429 (2024)


Edited by

P Kangueane






Biomedical Informatics



This is an Open Access article which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. This is distributed under the terms of the Creative Commons Attribution License.