University of Oregon researchers are performing studies that aim to find out which genes cause congenital heart defects.
About 40,000 people are born with congenital heart defects per year. One quarter of these cases are considered critical and often require surgery within their first year.
On March 15, the UO team of researchers published a paper in the research journal Development, which mapped out their process for understanding how heart valves form and which genes to look for in heart defects.
The research, led by assistant professor Kryn Stankunas, observes how heart valves form in mice.
The team is looking for valve defects in mouse embryos to identify which genes accompany the defect. Once enough data is collected, scientists in the future will be able to look for the identified genes in humans rather than in mice.
Fern Bosada, one of the researchers working on the project, said using mice for the study is essential.
“Mice and humans have a lot of the same types of genes and conserved pathways. Because of that we can study what happens in the mice and kind of translate it into humans because we know that it’s going to be pretty similar,” Bosada said.
Bosada asserted that genes are the sole factor that determines whether someone will be born with a heart disease. She said that a child whose mother had diabetes is 11 times more likely to show congenital heart defects than the average child. Bosada claims that this is all due to a specific gene that was passed on from the mother to the child.
“We need to know first how a valve will develop normally to say, ‘Okay, you need [gene A, gene B, gene C] to get a normal valve. If you’re missing [gene] C, this is the kind of defect you’re going to get’,” Bosada said.
Vidusha Devasthali is an assistant director of research development services at the UO and one of the top researchers involved in the study. Devasthali commented on some of the discoveries they’ve made in the lab.
“We found a gene that is involved in a very specific step in valve development, in a very specific valve,” Devasthali said.
Bosada specified that the team identified one of the genes that caused Noonan syndrome which affects about 1 in 1,750 people per year.
Devasthali said that once all of the genes are identified that cause Noonan syndrome, they could, in theory, identify whether a child has the defect during gestation.
UO senior Mitch Koch has a congenital heart defect and has had his aortic valve replaced four times.
“I’m excited to see what they find from this research and how it will influence the medical field in the future,” Koch said.
Devasthali and Bosada said that it will take years of further research to identify every gene responsible for congenital heart defects, but that once they have been cataloged, the defects will be closer to being a problem of the past.