Large genetic study uncovers new risk factors for DCM, other heart conditions

With participation of the Helmholtz Zentrum München, an international research team has discovered a number of new risk factors for dilated cardiomyopathy and other heart conditions. In the largest transcriptome study to date, the researchers analyzed the RNA of transplanted hearts. The study was recently published in ‘Genome Biology’.

Of many genes, it is known that some variants make people particularly prone to cardiovascular disease. But there are gaps in our knowledge. It is not just the genes themselves but also the way they are expressed that influences the risk of disease. In some cases, DNA regions that control how genetic information is copied onto RNA molecules are changed. The amount of RNA and whether this temporary information carrier is subsequently modified influence the development of disease.

To investigate these processes at RNA-level, however, there is a serious lack of research material. “It is extremely hard to get human heart tissue for genetic studies,” says Professor Norbert Hübner, one of the leading researchers involved in the study. “That’s why we still don’t know all the variants of risk genes by a long chalk.”

Together with a team from the Helmholtz Zentrum München and researchers from the Netherlands and Singapore, the group leader at the Max Delbrück Center for Molecular Medicine (MDC), the Charité – Universitätsmedizin Berlin and the Deutsches Zentrum für Herz-Kreislauf-Erkrankungen (DZHK) has just published a study, which is the largest yet undertaken comparing the entire transcriptome of heart tissue in healthy and diseased individuals.

Largest genetic study

The scientists were keen to discover which genes increase the risk of dilated cardiomyopathy (DCM), an inherited myocardial insufficiency that can lead to heart failure and sudden death. During heart transplants, the scientists collected biopsies from the left ventricle of 97 patients with DCM and 108 healthy donors. They analyzed the…

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