PLoS Genet: how natural genetic differences affect heart health

September 18, 2019 / BIOON / - the biggest risk of cardiovascular disease is smoking and poor eating habits However, different people are more susceptible to heart disease, based on tiny differences in their genes, known as mutations Although many studies have linked variants to cardiovascular characteristics, it is not clear whether these variants have functional consequences, such as changes in gene or protein expression In a new study by the Cardeza foundation for blood science research at Thomas Jefferson University, researchers found two minor genetic variations that may regulate the behavior of platelet cells and thus affect the risk of cardiovascular disease Photo source: under normal circumstances of PLoS Genetics, when platelets are activated, they will stick together and coagulate the wound to stop bleeding In diseases, platelets can aggregate to unhealthy fat and promote plaque formation in atherosclerosis and other diseases "The number and volume of platelets are regulated by specific gene expression," said Dr Leonard Edelstein, associate professor of research and senior author of the study "If there are more of these genes, there will be more platelet and clotting trends "CD36 is one of the genes that regulate platelet level and activation In the study, recently published in the journal PLoS Genetics, researchers including postdoctoral researcher namrata Madan and graduate student Andrew Ghazi looked for tiny changes in the CD36 gene code A review of the data revealed changes in 81 genomes, two of which were functional variants, meaning that they affected the expression of CD36 When they used gene editing to remove these mutations from cells, CD36 was overexpressed This suggests that the gene changes discovered by the researchers may be a potential target for regulating CD36 expression and expanding platelet function Researchers are now trying to determine what proteins they found to bind to the variant and how it regulates CD36 expression This study provides an example for further detection of functional gene variation and its relationship with cardiovascular health "We are now conducting a larger study to test 3500 gene variants, 150 of which are functional, and we want to study how these variants affect platelet function," Dr Edelstein said This result may provide potential guidance for genetic risk screening of cardiovascular diseases and help to develop targeted therapies Reference: namrata Madan et al, functionalization of CD36 cardiovascular disease and expression associated variables by interdisciplinary high through analysis, PLoS Genetics (2019) Doi: 10.1371/journal.pgen.1008287