PUBLICATION
Characterization of the Zebrafish Elastin a (elnasa12235) Mutant: A New Model of Elastinopathy Leading to Heart Valve Defects
- Authors
- Hoareau, M., El Kholti, N., Debret, R., Lambert, E.
- ID
- ZDB-PUB-230706-52
- Date
- 2023
- Source
- Cells 12(10): (Journal)
- Registered Authors
- Keywords
- animal model, cardiac valves, elastin, elastinopathies, zebrafish
- MeSH Terms
-
- Animals
- Aortic Stenosis, Supravalvular*/genetics
- Cutis Laxa*/genetics
- Elastin/genetics
- Elastin/metabolism
- Heart Valves
- Mammals/metabolism
- Williams Syndrome*/genetics
- Zebrafish/genetics
- Zebrafish/metabolism
- PubMed
- 37408270 Full text @ Cells
Citation
Hoareau, M., El Kholti, N., Debret, R., Lambert, E. (2023) Characterization of the Zebrafish Elastin a (elnasa12235) Mutant: A New Model of Elastinopathy Leading to Heart Valve Defects. Cells. 12(10):.
Abstract
Elastic fibers are extracellular macromolecules that provide resilience and elastic recoil to elastic tissues and organs in vertebrates. They are composed of an elastin core surrounded by a mantle of fibrillin-rich microfibrils and are essentially produced during a relatively short period around birth in mammals. Thus, elastic fibers have to resist many physical, chemical, and enzymatic constraints occurring throughout their lives, and their high stability can be attributed to the elastin protein. Various pathologies, called elastinopathies, are linked to an elastin deficiency, such as non-syndromic supravalvular aortic stenosis (SVAS), Williams-Beuren syndrome (WBS), and autosomal dominant cutis laxa (ADCL). To understand these diseases, as well as the aging process related to elastic fiber degradation, and to test potential therapeutic molecules in order to compensate for elastin impairments, different animal models have been proposed. Considering the many advantages of using zebrafish, we here characterize a zebrafish mutant for the elastin a paralog (elnasa12235) with a specific focus on the cardiovascular system and highlight premature heart valve defects at the adult stage.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping