Researchers from the Children’s National Health System have found a way to create personalized therapies for patients with congenital heart disease (CHD) using fruit flies.
The research, published in eLife, found that specific genetic errors that trigger CHD can be reproduced by the pesky bugs.
"Studying CHD in fruit flies provides a fast and simple first step in understanding the roles that individual genes play in disease progression," said Zhe Han, PhD, the lead author on the study and an associate professor in the Center for Cancer & Immunology Research at Children's National Health, in a statement. "Our research team is the first to describe a high-throughput in vivo validation system to screen candidate disease genes identified from patients. This approach has the potential to facilitate development of precision medicine approaches for CHD and other diseases associated with genetic factors.”
About 130 genes are implicated in causing CHD, which affects eight in 1,000 newborns. To validate that dozens of genes in flies cause heart disease, the researchers used high-throughput techniques.
"Our team was able to characterize the effect of these specific genetic alterations on heart development, structure and activity," Han said. "The development of the human heart is a complicated process in which a number of different cell types need to mature and differentiate to create all of the structures in this essential organ. The precise timing of those cellular activities is critical to normal heart development, with disruptions in the structure of proteins called histones linked to later heart problems."
Of the 134 genes studied by the researchers, 70 of them caused heart defects in fruit flies and several were linked to modifying the structures of histones. The findings could allow researchers to replicate and study individual cases of CHD, and create personalized treatments for patients with the condition, Han said.
"Precise gene-editing techniques could be used to tailor-make flies that express a patient's specific genetic mutation,” he said. “Treating CHD at the level of DNA offers the potential of interrupting the current cycle of passing along genetic mutations to each successive generation."