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Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome
Tamara D S Rusterholz1,2, Claudia Hofmann1,2, Ruxandra Bachmann-Gagescu1,2
1Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
Frontiers in Genetics
|July 18, 2022
Summary
Joubert syndrome (JBTS) is a ciliopathy affecting cilia function. Zebrafish models reveal gene-specific mechanisms for JBTS phenotypes like retinal dystrophy, highlighting tissue-specific protein roles.
Area of Science:
- Cell Biology
- Genetics
- Developmental Biology
Background:
- Cilia are crucial microtubule-based sensory organelles involved in development and homeostasis.
- Cilia dysfunction causes ciliopathies, a group of genetic disorders.
- Joubert syndrome (JBTS) is a key ciliopathy characterized by "Molar Tooth Sign" (MTS) and variable phenotypes.
Purpose of the Study:
- To review and compare existing Joubert syndrome zebrafish models.
- To assess their contribution to understanding JBTS pathomechanisms.
- To identify knowledge gaps and future research directions.
Main Methods:
- Comparative analysis of published JBTS zebrafish models.
- Review of documented phenotypes across different organ systems.
- Evaluation of genetic heterogeneity and its impact on disease mechanisms.
Main Results:
- Retinal dystrophy in zebrafish models results from distinct gene-dependent mechanisms.
- Phenotypic variations across organs in different JBTS models suggest tissue-specific protein functions.
- Systematic phenotype assessment is lacking, limiting comparative conclusions.
Conclusions:
- Zebrafish models are valuable for studying JBTS pathomechanisms and ciliary function.
- Tissue-specific roles of JBTS-implicated proteins are suggested by model variations.
- Future research using these models can advance understanding and therapeutic strategies for ciliopathies.
