Sydney, Jan 29 : Australian researchers developed a new technology to find out which genes could cause congenital heart disease (CHD), and promote the development of accurate prenatal genetic testing. The research, led by the Murdoch Children’s Research Institute (MCRI) and the Monash University, was published in Genome Biology and released to the public on Friday. It can not only confirm well-known CHD genes but also predict new genes not previously suspected in the disease. Researchers said the new pipeline technology covers genome-wide gene discovery.
It is based on the identification of a cardiac-specific cis-regulatory element that points to candidate genes involved in heart development and congenital heart disease. With this pipeline, researchers retrieved 76 per cent of the known cardiac developmental genes and predicted novel genes that previously had no known connectivity to heart development. Lead author Hieu Nim said the conventional approach focused on screening genes that were present in the heart only, but the trick of the pipeline is to mine genome databases.
“Current approach often overlooks genes that are present in other tissues, despite still playing important roles in heart development,” he said. The researchers then used the “vinegar fly” testing model to determine the functional impacts of these novel genes, since the fly is a “well-established tool” that has a high percentage of the human disease-causing gene.
“The vinegar-fly studies also revealed a long list of high-quality candidate genes for causing heart abnormalities in humans, giving real insight into just how susceptible this organ was to genetic mutations,” Travis Johnson from Monash University said. Researchers said it now needs to conduct further studies before new candidate genes could provide more accurate prenatal genetic testing for CHD.
