Vascular dysfunction of the arteries in a mouse model of Marfan syndrome

Marfan syndrome is an inherited disorder of the connective tissue that causes abnormalities of the eyes, cardiovascular system, and musculoskeletal system. Its most serious and deadly complication is ballooning and rupture of the aorta, the major blood vessel that carries blood from the heart to the arteries and organs. The syndrome is caused by a defect in the gene that makes fibrillin-1 protein. Fibrillin-1 is essential in the formation of elastic fibres in arteries and in maintaining the functional and structural integrity of blood vessels’ endothelial and smooth muscle cells. Defects in this gene result in abnormalities in the way vessels contract and relax, increasing the susceptibility to ballooning and rupture of the aorta. Huei-Hsin Clarice Yang is studying the effect of Marfan syndrome on endothelial and smooth muscle cells in the aorta and the small arteries. She is expanding on previous research that found that smooth muscle in the Marfan-affected aortas is unable to relax normally. Her work focuses on the mechanisms that contribute to this dysfunction within smooth muscle cells and in the epilethial cells that regulate vascular contraction and relaxation. Yang’s work will provide valuable insight into how Marfan syndrome causes decreased contracting and relaxing abilities of the arteries. Ultimately, this knowledge could lead to innovative therapies to prevent or treat aortic rupture and to halt the vascular deterioration process in patients with Marfan syndrome