Researchers from University of Utah Health and University of California San Diego have created a detailed map of how gene regulation breaks down in human heart failure.

These findings reveal “how genes are controlled in specific cell types as the disease develops and pointing to potential new therapeutic targets.” The study “integrates multiple kinds of data to uncover the hidden rules underlying heart failure at single-cell resolution.”

A professor of cardiovascular medicine at University of Utah Health stated that these findings “establish a mechanistic framework for biological pathways of heart failure development and present multiple targets for developing new therapies for heart failure.” This can then hopefully be used to discover targets to be acted on therapeutically.

More than 85% of genetic changes linked to heart disease are in noncoding regions of DNA, making it “difficult” to determine how they contribute to disease overall. The researchers in this study were able to “identify 12 major heart cell types and dozens of subpopulations, each with its own distinct patterns of gene control.” Cells in failing hearts were found to change the activity of “more than 10,000 genes, and further alter how DNA is regulated at more than 50,000 locations.” The findings also suggest that “genes in heart muscle cells may be more visible as treatment targets for heart disease than other cardiac cell types.”