International Journal of Molecular Zoology 2024, Vol.14, No.1, 18-21 http://animalscipublisher.com/index.php/ijmz 19 and green signals in the heart indicate that ACTA2 co localizes with the cardiac muscle protein EGFP, which may indicate that ACTA2plays a crucial role in the development of the heart. Figure 1 Echocardiography and magnetic resonance cholangio-pancreatography (MCRP) of the patient with the ACTA2 G148R variant Figure 2 Endogenous ACTA2 expression in the heart Figure 3 shows the effect of ACTA2 gene mutations on cardiac contractile function in zebrafish larvae. Part A shows that zebrafish with ACTA2 p.G148R and ACTA2 p.R179H exhibit an increase in heart rate (measured in beats per minute). Compared with the wild-type (WT), this increase is not significant for the G148R variant (ns indicates no significance), while the R179H variant has a significant increase (** indicates P<0.01). Part B shows that the shortening fraction is significantly reduced in zebrafish carrying G148R and R179H mutations (*** indicates P<0.001). These results indicate that mutations in ACTA2 G148R and R179H may lead to impaired cardiac contractile function.
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