Nancy Fliesler, from the Boston’s Children Hospital, talks about how for a couple decades now, researchers have been trying to find out what are the genetic causes for congenital heart disease (CHD). Some causes include chromosomal abnormalities, genetic variants affecting protein-coding genes, and environmental factors, but this only accounts for about 45 percent of cases of CHD. There has been evidence that noncoding DNA does contribute to CHD. It’s difficult to find out which noncoding variants are involved in heart disease, and which are not. Statistical filters were applied to separate the noncoding variants that were not contributing to CHD. 7,000 variants in noncoding DNA regions were left after the separation. 403 affected the activity of transcription enhancers out of the 7,000 variants they tested.
They then had to introduce 10 of the noncoding variants into normal human stem cells at a certain location on the genome. Four out of the ten variants altered the expression of neighboring genes when the stem cells formed into cardiomyocytes. The research conducted suggest that hundreds more noncoding variants contribute to CHD which could explain cases that are negative by exome sequencing. Future findings could eventually be used to classify patients’ risks, predict outcomes of surgery, or change the course of structural heart disease during pregnancy or after birth. This is important research as we didn’t know for sure what was causing CHD. To know now that there is a noncoding DNA that is the culprit for this disease is revolutionary.
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