The Korea Disease Control and Prevention Agency National Institute of Health said on the 9th that it discovered key genes and cellular mechanisms related to cardiomyopathy. Cardiomyopathy is a disease that affects the heart muscle and can lead to heart failure, arrhythmias, and sudden death.
Until now, researchers have conducted whole-genome sequencing and other analyses to find the cause of cardiomyopathy, but many variants had unknown significance. The institute analyzed data from 245 cardiomyopathy patients participating in the national bio big data project using a new method. As a result, it identified 144 genes among the 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 suggests that cardiomyopathy may arise from abnormal interactions among multiple cell types.
The institute said, "We can use this study to develop personalized treatments for cardiomyopathy patients who have suffered without knowing the cause of the disease." The findings were published in the international scientific journal "Scientific Reports."