Cardiovascular diseases, including stroke and coronary artery disease are among the leading causes of death worldwide. Classical risk factors include age, personal lifestyle, and pre-existing conditions, but genetic predisposition also plays a role. “Large-scale genome-wide association studies have identified multiple genes that influence the risk of stroke and cardiovascular disease,” says LMU Professor Martin Dichgans. “They have also shown that genetic information can be used to discover potential drug targets for targeted therapies.”

Director of the Institute for Stroke and Dementia Research at LMU University Hospital and scientist in the SyNergy Cluster of Excellence, Dichgans is lead investigator of a study which has just been published in the journal Nature Cardiovascular Research. The study undertook a deep investigation of the gene HTRA1, which encodes a protease – an enzyme that has a regulating effect on the extracellular matrix. “HTRA1 has proven to be a risk gene for various disorders, including stroke and diseases of the cerebral small vessels,” explains the stroke and dementia researcher. People who inherit specific variants of the gene are considerably more likely to suffer from such afflictions. However, the mechanisms underlying this increased risk were insufficiently understood before.