A closer look at heart-disease genes

Scientists at Sydney’s Centenary Institute have conducted a study which could change how researchers discover the causes of genetic heart disease.

At the moment, the bulk of genetic testing focuses on the protein-coding sections of DNA to look for disease-causing variants. However, these protein-coding regions only make up about 2% of our entire DNA sequence.

As part of a study published in the journal Circulation: Genomic and Precision Medicine, researchers in Centenary’s Molecular Cardiology Program screened 500 families affected by hypertrophic cardiomyopathy — a common genetic heart condition which occurs when the heart muscle thickens, making it difficult to pump blood. The researchers focused on one of the main disease-causing genes, known as MYBPC3, and discovered they were able to attribute the cause of hypertrophic cardiomyopathy in four families to a variant found in the non-coding region of the DNA.

“This study makes a major difference for those four families who otherwise would not have known the cause of their heart condition, which in some cases can be fatal,” said lead author Emma Singer.

Senior researcher Dr Richard Bagnall is meanwhile hopeful that the study will help redirect the broader focus of genetic heart disease research. He said he hopes the results will encourage other researchers to undertake a similar approach in larger cohorts of patients with other known disease-causing genes.

“This study demonstrates why we need to be looking at the known genes more closely and more carefully — because we’re finding that we’re having a lot more success that way, rather than trying to find a new gene altogether that causes disease,” he said.

Image credit: ©stock.adobe.com/au/Sashkin

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