Using a zebrafish model to study the mechanisms leading to the cardiovascular manifestations of Marfan syndrome
Daniels Elise, 2025
Marfan syndrome is a genetic disorder that affects approximately 1 in 5,000 people. It is caused by a defect in connective tissue, the material that supports and holds together cells, organs, and tissues throughout the body. Because of this widespread role, Marfan syndrome can affect multiple organ systems, with features seen in bones, joints, eyes, blood vessels, and the heart. A major concern is the enlargement of the aorta, the main artery carrying blood from the heart to the body, that increases the risk of a life-threatening rupture. While current treatments can slow the progression of the aortic disease, no existing therapy can fully stop aortic enlargement or prevent rupture. This study demonstrates that a zebrafish model can serve as a valuable tool for advancing Marfan syndrome research. Zebrafish are well-suited for drug screening, enabling rapid identification of potential treatments. The results of this study show that several candidate compounds improve the phenotype in a zebrafish model that mimics key features of human Marfan syndrome, highlighting the need for further investigations to clarify their full therapeutic potential. If these results translate successfully to humans, they could reduce the need for high-risk surgeries, lower healthcare costs, and most importantly, improve both the quality and quantity of life for patients with Marfan syndrome.
| Promotor | Patrick Sips |
| Opleiding | Biomedische Wetenschappen |
| Domein | Medical Genetics |