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Modeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity?
Andrew Prendergast1, Mary B Sheppard2,3,4, Jakub K Famulski5
1Yale Zebrafish Research Core, Department of Comparative Medicine, Yale University School of Medicine, New Haven, CT, United States.
Frontiers in Cardiovascular Medicine
|March 11, 2025
Summary
Zebrafish models offer a new way to study thoracic aortic aneurysm and dissection (TAAD) genetics. This approach helps identify new disease-causing genes and assess genetic variants for better patient diagnosis and care.
Area of Science:
- Cardiovascular Genetics
- Translational Medicine
- Zebrafish Models
Background:
- Thoracic aortic aneurysm and dissection (TAAD) poses significant cardiovascular risks, with heritable genetic defects implicated in many cases.
- Identifying causative genes and interpreting variants of unknown significance (VUS) remain challenges in TAAD diagnosis.
- Functional modeling is crucial for accurate genetic diagnosis and discovery in heritable TAAD.
Purpose of the Study:
- To review zebrafish-based methods for assessing gene and variant pathogenicity in TAAD.
- To explore the potential of zebrafish models for accelerating TAAD genetic research.
- To provide an outlook on clinical applications of zebrafish models for TAAD.
Main Methods:
- Review of existing zebrafish models and techniques for TAAD research.
- Assessment of zebrafish as a platform for functional variant analysis.
- Discussion of strategies for integrating zebrafish findings into clinical practice.
Main Results:
- Zebrafish offer a powerful, accelerated system for modeling TAAD and assessing genetic variants.
- This model facilitates the identification of novel TAAD-associated genes.
- It aids in classifying VUS, improving diagnostic accuracy.
Conclusions:
- Zebrafish modeling represents a promising strategy to overcome current diagnostic limitations in heritable TAAD.
- This approach can enhance patient care by enabling faster and more accurate genetic diagnoses.
- Further development and implementation of these models are key for advancing TAAD research and clinical application.
