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April 2016

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Overview
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Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease, Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators, N Engl J Med. 2016 March 2, DZHK authors: Erdmann, König, Franke, Kessler, Laugwitz, Meitinger, Peters, Strauch, Kastrati, Schunkert

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DZHK investigators from Lübeck and Munich are the first and last authors of an international study in which 13,000 human genes were scanned for mutations that influence risk for myocardial infarction. The investigators were able to identify four such genes. Two of those are already targets for drugs to lower the risk for myocardial infarction. Now the study has revealed a further promising approach for prevention. Here the focus is on lipoprotein lipase, an enzyme which breaks down triglycerides in blood. The researchers have identified different gene variants that either boost or lower the activity of the enzyme. Correspondingly, the risk for myocardial infarction either increased or decreased. The results of the study now make it possible to look for active substances that mimic the effects of the mutations.

Link to the Paper

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