Generation of a Triadin KnockOut Syndrome Zebrafish Model
| Autor: | Marco Spreafico, Chiara Di Resta, Anna Santoni, Vanilla Martina Vecchi, Anna Marozzi, Alessia Brix, Anna Pistocchi, Simone Sala |
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| Přispěvatelé: | Vecchi, V. M., Spreafico, M., Brix, A., Santoni, A., Sala, S., Pistocchi, A., Marozzi, A., Di Resta, C. |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Morpholino
Muscle Fibers Skeletal Gene Expression Muscle Proteins Bioinformatics Sudden cardiac death Gene Knockout Techniques Loss of Function Mutation Medicine Biology (General) Zebrafish Spectroscopy biology Syndrome General Medicine Triadin KnockOut Syndrome Phenotype Computer Science Applications Chemistry heart defects Heart defects QH301-705.5 Danio arrhythmic drugs Article Catalysis Inorganic Chemistry Animals Humans Genetic Predisposition to Disease Physical and Theoretical Chemistry Molecular Biology Gene QD1-999 Genetic Association Studies business.industry Mechanism (biology) Organic Chemistry Arrhythmic drugs Arrhythmias Cardiac biology.organism_classification medicine.disease zebrafish Disease Models Animal Death Sudden Cardiac Triadin Carrier Proteins business |
| Zdroj: | International Journal of Molecular Sciences Volume 22 Issue 18 International Journal of Molecular Sciences, Vol 22, Iss 9720, p 9720 (2021) |
| ISSN: | 1422-0067 |
| DOI: | 10.3390/ijms22189720 |
| Popis: | Different forms of sudden cardiac death have been described, including a recently identified form of genetic arrhythmogenic disorder, named “Triadin KnockOut Syndrome” (TKOS). TKOS is associated with recessive mutations in the TRDN gene, encoding for TRIADIN, but the pathogenic mechanism underlying the malignant phenotype has yet to be completely defined. Moreover, patients with TKOS are often refractory to conventional treatment, substantiating the need to identify new therapeutic strategies in order to prevent or treat cardiac events. The zebrafish (Danio rerio) heart is highly comparable to the human heart in terms of functions, signal pathways and ion channels, representing a good model to study cardiac disorders. In this work, we generated the first zebrafish model for trdn loss-of-function, by means of trdn morpholino injections, and characterized its phenotype. Although we did not observe any gross cardiac morphological defect between trdn loss-of-function embryos and controls, we found altered cardiac rhythm that was recovered by the administration of arrhythmic drugs. Our model will provide a suitable platform to study the effect of TRDN mutations and to perform drug screening to identify new pharmacological strategies for patients carrying TRDN mutations. |
| Databáze: | OpenAIRE |
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