PUBLICATION

Transcriptome Profile Identifies Actin as an Essential Regulator of Cardiac Myosin Binding Protein C3 Hypertrophic Cardiomyopathy in a Zebrafish Model

Authors
Da'as, S.I., Hasan, W., Salem, R., Younes, N., Abdelrahman, D., Mohamed, I.A., Aldaalis, A., Temanni, R., Mathew, L.S., Lorenz, S., Yacoub, M., Nomikos, M., Nasrallah, G.K., Fakhro, K.A.
ID
ZDB-PUB-220827-17
Date
2022
Source
International Journal of Molecular Sciences   23(16): (Journal)
Registered Authors
Da'as, Sahar, Hasan, Waseem
Keywords
HCM, RNA seq, actin, c-MYBPC3, hypertrophic cardiomyopathy, zebrafish knockout
MeSH Terms
  • Actins/genetics
  • Actins/metabolism
  • Animals
  • Cardiac Myosins/genetics
  • Cardiomyopathy, Hypertrophic*/genetics
  • Carrier Proteins/genetics
  • Carrier Proteins/metabolism
  • Hyperplasia/metabolism
  • Mutation
  • Myocytes, Cardiac/metabolism
  • Transcriptome
  • Zebrafish*/genetics
  • Zebrafish*/metabolism
PubMed
36012114 Full text @ Int. J. Mol. Sci.
Abstract
Variants in cardiac myosin-binding protein C (cMyBP-C) are the leading cause of inherited hypertrophic cardiomyopathy (HCM), demonstrating the key role that cMyBP-C plays in the heart's contractile machinery. To investigate the c-MYBPC3 HCM-related cardiac impairment, we generated a zebrafish mypbc3-knockout model. These knockout zebrafish displayed significant morphological heart alterations related to a significant decrease in ventricular and atrial diameters at systolic and diastolic states at the larval stages. Immunofluorescence staining revealed significant hyperplasia in the mutant's total cardiac and ventricular cardiomyocytes. Although cardiac contractility was similar to the wild-type control, the ejection fraction was significantly increased in the mypbc3 mutants. At later stages of larval development, the mutants demonstrated an early cardiac phenotype of myocardium remodeling, concurrent cardiomyocyte hyperplasia, and increased ejection fraction as critical processes in HCM initiation to counteract the increased ventricular myocardial wall stress. The examination of zebrafish adults showed a thickened ventricular cardiac wall with reduced heart rate, swimming speed, and endurance ability in both the mypbc3 heterozygous and homozygous groups. Furthermore, heart transcriptome profiling showed a significant downregulation of the actin-filament-based process, indicating an impaired actin cytoskeleton organization as the main dysregulating factor associated with the early ventricular cardiac hypertrophy in the zebrafish mypbc3 HCM model.
Genes / Markers
Figures
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Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping