Scientific Review

From Gene to Function: Exploring the Effects of ACTA2 Gene Variants on Cardiac Development  

Yeping Han
Institute of Life Science, Jiyang College of Zhejiang A&F University, Zhuji, 311800, China
Author    Correspondence author
International Journal of Molecular Zoology, 2024, Vol. 14, No. 1   doi: 10.5376/ijmz.2024.14.0003
Received: 06 Feb., 2024    Accepted: 12 Feb., 2024    Published: 19 Feb., 2024
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This is an open access article published under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Preferred citation for this article:

Han Y.P., 2024, From gene to function: exploring the effects of ACTA2 gene variants on cardiac development, International Journal of Molecular Zoology, 14(1): 18-21 (doi: 10.5376/ijmz.2024.14.0003)


The journal Nature published a paper titled “Cardiac Manifestations of Human ACTA2 Variants Recapitated in a Zebrafish Model” on February 5, 2024, authored by Wulan Apridita Sebastian, Masanori Inoue, Nobuyuki Shimizu and others, from the Department of Cell Biology, Oita University, Faculty of Medicine, Oita, Japan. This study explored the cardiac performance caused by human ACTA2 gene mutations by using a zebrafish model, revealing the effects of ACTA2 G148R and R179H mutations on left ventricular non compression and abnormal cardiac morphology development. The ACTA2 gene encodes vascular smooth muscle cells α-actin β2. It is the main protein in vascular smooth muscle. The missense mutation of ACTA2 gene may lead to hereditary thoracic aortic disease. This study reported a patient with an abnormal mutation in the ACTA2 gene Gly148Arg (G148R), exhibiting rare left ventricular non compression. The pathogenicity of this rare variant in cardiac development and function was validated through live zebrafish models.

ACTA2; Cardiac development
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