▲ (From left) Professor Sang Eun Lee from the Division of Cardiology and Professor Hee Sang Hwang from the Department of Pathology at Asan Medical Center

Cardiomyopathy, a leading cause of heart failure, is a condition in which the heart muscle becomes weakened or thickened. Its subtypes differ among individuals, and the exact causes remain unclear, making fundamental treatment difficult. As a result, current medical care is limited to managing the physiological responses that occur as the heart weakens.

A research team led by Professor Sang Eun Lee from the Division of Cardiology and Professor Hee Sang Hwang from the Department of Pathology at Asan Medical Center (AMC) has identified genes involved in the development of cardiomyopathy, laying the groundwork for new therapeutic options. The team conducted large-scale analysis by identifying 12,800 genes using spatial transcriptomics on heart tissue samples from 37 cardiomyopathy patients and 7 control subjects collected between January 2018 and April 2021. Spatial transcriptomics is a cutting-edge technique that visualizes which cells in specific tissue regions express certain genes.

As a result, the research team found that the expression of the UCHL1 gene, which is related to protein degradation, increased during degenerative changes such as cellular damage and functional loss in heart muscle. During the recovery process of damaged heart tissue, a specific type ofcell was observed to promote inflammation and fibrosis as fibrosis progressed. These cells were characterized by the co-expression of the ACKR1, PLVAP, and CCL14 genes. The research team also identified genes that were differentially regulated between the early compensated stage, where cardiac function is relatively well maintained, and the uncompensated end-stage, in which function declines rapidly. In the process, the team newly identified genes such as AX1BP3, PFKFB2, and CRIP3, whose associations with cardiomyopathy had not been well established. These findings suggest that these genes could potentially serve as key targets in the development or progression of cardiomyopathy in the future.

The study was recently published in the ‘European Heart Journal’, a leading international journal in the field.