The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta

Aneurysm formation and aortic dissection remain the most life-threatening complications of Marfan syndrome, but the pathogenesis of aortic disease is poorly understood. In this study we characterized a reliable murine model of Marfan syndrome (mgR/mgR) and performed histologic investigations on all parts of the aorta and exploratory gene expression analysis to improve the understanding of aortic disease in Marfan syndrome. Our results show that all segments of the aorta are affected by characteristic abnormalities including fragmentation of elastic fibers. A number of genes with immune-related functions were found to be differentially expressed. These findings suggest important avenues for future research on the pathophysiology of Marfan syndrome.