Congenital heart defects, which a person is born with, impact one in one hundred babies. CHD is a leading cause of death for newborns, but researchers are still learning more about why they occur. A new study has linked many genes to CHD, 35 of which have never been connected to CHD before this. The research, which was reported in Genome Biology, could eventually improve diagnostic tools that can identify the potential for CHD in pre-natal testing.
In this study, the researchers scoured databases to find genes that are expressed in the heart, even if they were also linked to other tissues. That enabled the researchers to find genes associated with CHD that might have been ignored because they were not expressed solely in heart tissue, the study authors noted.
Once genes had been identified with computational tools, the researchers turned to a fruit fly model to investigate some of the predictions, and how these genes are related to heart development. About 75 percent of the human genes that have been linked to disease are also found in fruit flies, they are easy to maintain, and they breed rapidly, making them a convenient research model.
According to study co-leader Dr. Travis Johnson of Monash University’s School of Biological Sciences, the fruit fly research revealed “a long list of high-quality candidate genes for causing heart abnormalities in humans, giving real insight into just how susceptible this organ is to genetic mutations.”
Although many new genes have been identified in this study, Johnson cautioned that more research will be needed before they will be used in prenatal CHD genetic testing for CHD. “We now need to conduct functional studies on all of these genes in animal experiments to determine what they actually do," but while this research is still in the early stages, it's a promising foundation for future work.