07/11/2023
Researchers from the University of Helsinki and the Folkhälsan Research Center, together with their international partners, have identified the genetic background of dilated cardiomyopathy, a disease that enlarges the heart muscle, in dogs and humans.
A variety of factors can cause cardiomyopathy, but genetics play a significant role. Although dozens of genes underlying cardiomyopathy in humans have been identified, the hereditary nature and genetic background of the disease in dogs have remained unclear.
The significance of the gene discovery in dogs was investigated in human patients diagnosed with dilated cardiomyopathy using Dutch, English (UK Biobank) and Finnish (FinnGen) cohorts. Fifteen potentially harmful and predisposing variants in the same RNF207 and PRKAA2 genes, which had been identified in dogs, were discovered in humans.
With the help of genetic mapping, two adjacent gene loci in chromosome 5 were associated with dilated cardiomyopathy.
Demonstrated structural variation, which could have a detrimental effect on the functioning of the genes and cause heart failure.
