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Systematic Disruption of Zebrafish Fibrillin Genes Identifies a Translational Zebrafish Model for Marfan Syndrome
Karo De Rycke1, Marina Horvat1, Lisa Caboor1
1Center for Medical Genetics Ghent (CMGG), Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
JACC. Basic to Translational Science
|April 23, 2026
Summary
Fibrillin-3 deficiency in zebrafish causes cardiovascular issues like aortic dilation, mirroring Marfan syndrome (MFS). This model aids in studying MFS and finding new treatments for these fibrillin defects.
Area of Science:
- Cardiovascular Biology
- Genetics
- Zebrafish Models
Background:
- Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, primarily causing severe cardiovascular complications such as aortic dilation, dissection, and rupture.
- Fibrillin proteins are crucial components of the extracellular matrix, and their defects are implicated in MFS pathogenesis.
Purpose of the Study:
- To develop and characterize a zebrafish model that recapitulates the cardiovascular phenotypes observed in human Marfan syndrome.
- To investigate the molecular mechanisms underlying fibrillin-related cardiovascular disease using this model.
Main Methods:
- Generation of zebrafish mutants deficient in various fibrillin genes.
- Multimodal imaging techniques to assess cardiac structure and function.
- Transcriptomic analysis to identify dysregulated molecular pathways.
Main Results:
- Fibrillin-3-deficient zebrafish exhibited cardiovascular abnormalities, including cardiac defects, bulbus arteriosus dilation, and valve abnormalities, closely resembling human MFS.
- Transcriptomic data revealed significant alterations in pathways associated with extracellular matrix homeostasis and immune system activation.
Conclusions:
- Fibrillin-3-deficient zebrafish serve as a relevant and valuable model for studying the cardiovascular manifestations of Marfan syndrome.
- This model offers a platform for future research into MFS disease mechanisms and the identification of potential therapeutic strategies for fibrillin defects.
