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Published on: June 3, 2014
Aortic Tissue Proteome Alterations in Vascular Ehlers-Danlos Syndrome
Gianmaria Miolo1, Giovanni Canil2, Piernicola Machin3
1Medical Oncology and Cancer Prevention Unit, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano 33081, Italy.
Insights
Vascular Ehlers-Danlos syndrome (vEDS) involves COL3A1 gene mutations, causing aortic dissection. Proteomic analysis revealed altered collagen types and extracellular matrix remodeling in vEDS aortic tissue, suggesting compensatory mechanisms for vascular fragility.
Area of Science:
- Biochemistry
- Genetics
- Cardiovascular Biology
Background:
- Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder.
- It stems from mutations in the COL3A1 gene, impacting collagen type III.
- vEDS leads to severe vascular complications, including aortic dissection and aneurysms.
Purpose of the Study:
- To perform a proteomic analysis of aortic wall tissue from a vEDS patient.
- To identify specific extracellular matrix (ECM) protein alterations in vEDS.
- To explore potential compensatory mechanisms contributing to vascular fragility.
Main Methods:
- Proteomic analysis of aortic wall tissue.
- Comparison of tissue from a vEDS patient with confirmed COL3A1 mutation against healthy controls.
- Quantification of collagen isoforms and associated ECM proteins.
Main Results:
- The vEDS patient's aortic tissue showed an imbalance in collagen isoforms, with increased type I and VI, and decreased type VIII, XIV, and XVIII collagen.
- No significant change in type III collagen was observed.
- Alterations in collagen-processing enzymes, nidogens, and matricellular proteins (THBS1, THBS2, fibulins) were identified.
Conclusions:
- The study reveals specific extracellular matrix remodeling in the aorta of a vEDS patient.
- Identified alterations suggest compensatory mechanisms in vEDS.
- These findings contribute to understanding the molecular basis of vascular fragility in vEDS.
Abstract:
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.
