The Korea Disease Control and Prevention Agency National Institute of Health said on the 9th that it discovered key genes and cellular actions related to cardiomyopathy. Cardiomyopathy is a disease in which problems arise in the heart muscle, causing heart failure, arrhythmias and sudden death.
Until now, whole-genome sequencing and other analyses were conducted to find the cause of cardiomyopathy, but many variants had unknown significance. The institute analyzed data from 245 patients with cardiomyopathy participating in the national bio big data project using a new method. As a result, it identified 144 genes among variants of unclear clinical significance that affect heart formation and development.
The institute also analyzed 11,664 heart cells. It found that not only cardiomyocytes, previously known as a cause of cardiomyopathy, but also cardiac endothelial cells showed high gene expression. This means that cardiomyopathy may occur due to abnormal interactions among multiple cells.
The institute said, "We can use this study to develop personalized treatments for cardiomyopathy patients who have suffered without knowing the cause of their disease." The findings were published in December last year in the international scientific journal "Scientific Reports."
References
Scientific Reports (2025), DOI: https://doi.org/10.1038/s41598-025-33901-y