Aortic Tissue Proteome Alterations in Vascular Ehlers–Danlos Syndrome

Vascular Ehlers–Danlos syndrome (vEDS) is a rare connective tissue disorder caused by mutations in the COL3A1 gene, leading to life-threatening vascular complications. This study presents a proteomic analysis of aortic wall tissue from a 60 year-old vEDS patient with a confirmed COL3A1 mutation, who died from an aortic dissection consequent to an abdominal aortic aneurysm. Compared to healthy controls, the patient’s tissue showed an imbalance in collagen isoforms such as elevated types I and VI and reduced types VIII, XIV, and XVIII, with no significant change in type III collagen. Alterations were also found in collagen-processing enzymes, nidogens, and matricellular proteins, such as THBS1, THBS2, and fibulins. These findings reveal specific vessel extracellular matrix remodeling and suggest compensatory mechanisms that may contribute to the vascular fragility in vEDS.