miR-146-5p as a Potential Biomarker for Marfan-Syndrome Related Thoracic Aortic Aneurysms

Prior research has shown that the quantification of microRNAs in human blood and tissue samples is useful for the diagnosis of aortic aneurysms, since they can be used as biomarkers for the disease. MicroRNAs are particularly stable and disease-specific, meaning diseased and healthy individuals will often show very different quantities of certain microRNAs, which makes them especially useful as identifiers for disease. In Marfan syndrome, a disorder with a predisposition for aortic aneurysm, microRNAs have not been studied as biomarkers for the disease. However, certain proteins have been found as biomarkers for Marfan syndrome, and the genes that code for these proteins could be regulated by microRNAs. This research aimed to discover if any specific microRNAs have the potential to be used as biomarkers for the diagnosis of Marfan syndrome-related thoracic aortic aneurysms. Upon identifying miR-146-5p, we determined a protocol for its quantification in healthy individuals and those with Marfan syndrome in plasma samples. The TargetScanHuman database was used to see if there were any common microRNA binding sites on the UTR region of the gene that codes for EMPRINN, a protein known for its role as a biomarker in Marfan syndrome-related thoracic aortic aneurysms (MFS-TAAs). Using computational biology, we were able to determine that miR-146-5p could play a crucial role in the regulation of EMPRINN. Next, a protocol for microRNA quantification of human plasma samples was used to isolate the total microRNA from plasma. Future directions will aim to compare the amount of miR-146-5p in healthy individuals and individuals with Marfan syndrome, and we hope these findings will suggest that miR-146-5p is useful as a biomarker for MFS-TAAs.