Why the study?
The mechanisms by which TAFopathies cause neurodevelopmental, craniofacial, and cardiac abnormalities remain undefined.
Population
Zebrafish with taf1 and taf5 mutations
Comparison
taf1 and taf5 mutant zebrafish vs wild-type
Design
Forward genetic screen and CRISPR/CAS9 gene editing study
Follow-up
96 hours post-fertilization
Key result
Deletion of taf1 and taf5 in zebrafish caused craniofacial hypoplasia, ventricular hypoplasia, and heart failure, driven by misregulation in metabolic gene expression and metabolism.
Authors
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Zebrafish taf1/taf5 models link TAFopathies to metabolic dysregulation; leaves open whether metabolic targets modify cardiac or neurodevelopmental phenotypes in patients.
Deletion of taf1 and taf5 in zebrafish causes cardiac and craniofacial abnormalities, suggesting TAFopathies may be driven by metabolic perturbations.
Leid et al. (2023) studied TAFopathies. Deletion of taf1 and taf5 vs. Wild-type was evaluated on Craniofacial hypoplasia, ventricular hypoplasia, heart failure, and lethality. Deletion of taf1 and taf5 in zebrafish caused craniofacial hypoplasia, ventricular hypoplasia, and heart failure, driven by misregulation in metabolic gene expression and metabolism.