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Published on: November 24, 2014
Marfan syndrome. Demonstration of abnormal elastin in aorta
The Journal of Clinical Investigation
|December 1, 1982
Summary
Patients with Marfan syndrome exhibit reduced elastin cross-linking in their aortae. This defect in elastin may explain the observed vascular fragility in Marfan syndrome patients.
Area of Science:
- Biochemistry
- Connective Tissue Biology
- Cardiovascular Research
Background:
- Marfan syndrome is a genetic disorder affecting connective tissue, often leading to aortic complications.
- Vascular complications, particularly aortic dissection and rupture, are a major cause of mortality in Marfan syndrome.
- Biochemical analysis of aortic tissue is crucial for understanding the molecular basis of these complications.
Observation:
- Elastin was isolated from aortae of Marfan syndrome patients and age-matched controls.
- Amino acid analysis revealed significantly lower levels of desmosine and isodesmosine in Marfan elastin.
- Elastin concentration was reduced, and collagen composition remained unchanged in Marfan aortae.
Findings:
- Aortae from Marfan syndrome patients showed approximately 50% less desmosine and isodesmosine compared to controls.
- Increased lysyl residues and higher elastin solubility were observed in Marfan cases after alkali treatment.
- Reduced elastin cross-linking and concentration were identified as key biochemical alterations in Marfan aortae.
Implications:
- The findings suggest a primary defect in elastin cross-linking contributes to aortic fragility in Marfan syndrome.
- Understanding these biochemical changes can inform the development of targeted therapies for Marfan syndrome.
- This research highlights the critical role of elastin integrity in maintaining aortic structure and function.
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