Brno scientists investigate hereditary disorder that leads to heart attacks in thirty-somethings

Scientists from Masaryk University Faculty of Medicine are investigating a hereditary disorder that leads to heart attacks at a young age in a pan-European project. The university announced this in a press release. Familial hypercholesterolaemia, as the full name of the disorder goes, causes high blood cholesterol levels and subsequently increases the risk of heart attack many times over, often as early as the age of 30.

"A person can live for years without symptoms before unexpectedly suffering a heart attack. And the older one gets, the harder familial hypercholesterolaemia is to diagnose, as cholesterol levels naturally increase with age, so it can be harder to distinguish whether it is due to a genetic disorder or other factors such as an unhealthy lifestyle. Only genetic testing will provide an accurate diagnosis," said Tomáš Freiberger from the Centre for Cardiovascular and Transplant Surgery in Brno.

Early detection of this disease is the focus of the Horizon Europe-funded transnational FH-EARLY project, in which the Faculty of Medicine is now involved.

"Our department enters the project with an extensive database of genetically and clinically well-characterised patients and more than 20 years of experience in genetic diagnosis of this disease. We will be coordinating the part of the project that will focus on finding new genes and new genetic mechanisms for familial hypercholesterolemia, as well as developing a genetic risk score to determine individual patient risk levels," Freiberger added.

The output of the FH-EARLY project will be a comprehensive functional characterisation of relevant gene variants that will facilitate the understanding of the origins of the disease using state-of-the-art technologies, including artificial intelligence. The researchers are expected to develop a kit for early diagnosis as well as prediction of how a particular patient will progress.

Source: www.brnan.cz