PUBLICATION
Systematic Disruption of Zebrafish Fibrillin Genes Identifies a Translational Zebrafish Model for Marfan Syndrome
- Authors
- De Rycke, K., Horvat, M., Caboor, L., Vermassen, P., De Smet, G., Lobbestael, S., Santana Silva, M., Steyaert, W., Van Impe, M., Segers, P., De Backer, J., Sips, P.
- ID
- ZDB-PUB-260424-7
- Date
- 2026
- Source
- JACC. Basic to translational science 11: 101543 (Journal)
- Registered Authors
- Sips, Patrick
- Keywords
- CRISPR/Cas9, animal disease models, aortic disease, bulbus arteriosus, extracellular matrix, fibrillinopathies
- Datasets
- GEO:GSE300393
- MeSH Terms
- none
- PubMed
- 42025244 Full text @ JACC Basic Transl Sci
Citation
De Rycke, K., Horvat, M., Caboor, L., Vermassen, P., De Smet, G., Lobbestael, S., Santana Silva, M., Steyaert, W., Van Impe, M., Segers, P., De Backer, J., Sips, P. (2026) Systematic Disruption of Zebrafish Fibrillin Genes Identifies a Translational Zebrafish Model for Marfan Syndrome. JACC. Basic to translational science. 11:101543.
Abstract
Fibrillin defects lead to severe cardiovascular complications in Marfan syndrome (MFS), including aortic dilation, dissection, and rupture. To model MFS, zebrafish mutants lacking various fibrillin genes were generated. Among these mutant lines, only fibrillin-3-deficient zebrafish exhibited cardiovascular phenotypes mimicking human disease. Multimodal imaging revealed early cardiac defects, bulbus arteriosus dilation, and valve abnormalities. Transcriptomic analysis identified altered regulation of pathways related to extracellular matrix homeostasis and immune system activation. This zebrafish model, recapitulating key cardiovascular features of MFS, provides a valuable platform to investigate disease mechanisms and identify novel treatment strategies.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping