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Updated: Apr 8, 2026
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Long non-coding RNA profiling of hypertrophic cardiomyopathy in mice
Graham A Branscom1, Michael P Morley2, Jonathan J Herrera3
1Cardiology Division, Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA. graham.branscom@icahn.mssm.edu.
Insights
Long non-coding RNAs (lncRNAs) are key regulators in cellular processes. This study identifies differentially expressed lncRNAs in a mouse model of hypertrophic cardiomyopathy (HCM), offering insights into disease mechanisms.
Area of Science:
- Genomics
- Molecular Biology
- Cardiovascular Research
Background:
- Long non-coding RNAs (lncRNAs) are crucial regulators of gene expression.
- Hypertrophic cardiomyopathy (HCM) is a prevalent inherited heart condition.
- The role of lncRNAs in HCM pathophysiology is currently unknown.
Purpose of the Study:
- To investigate the role of lncRNAs in the development of hypertrophic cardiomyopathy.
- To identify differentially expressed lncRNAs in a mouse model of HCM.
- To provide a resource for studying lncRNA function in human HCM.
Main Methods:
- RNA sequencing (RNA-Seq) was performed on left ventricle samples from transgenic HCM TNNT2 ∆160 mice and non-transgenic controls.
- Differential expression analysis was conducted to identify dysregulated lncRNAs.
- Mouse lncRNA genes with human orthologs were identified.
Main Results:
- A dataset of differentially expressed lncRNAs was generated from HCM mouse models.
- Specific lncRNAs were found to be dysregulated in the context of HCM.
- A list of mouse lncRNAs with human orthologs was compiled.
Conclusions:
- lncRNAs are likely involved in the pathophysiology of hypertrophic cardiomyopathy.
- This study provides a valuable dataset for further research into lncRNA function in HCM.
- The identified human orthologs facilitate translational studies for human HCM.
Abstract:
Long non-coding RNAs (lncRNAs) are transcripts that do not typically code for protein but have essential roles in the regulation of transcription and translation in health and disease. Hypertrophic cardiomyopathy (HCM) is a commonly inherited cardiovascular disease. While a number of studies have described transcriptional regulation in human heart tissue and animal models of HCM, whether lncRNA plays a role in the pathophysiology of HCM remains unknown. We present an RNA-Seq dataset on left ventricle samples from transgenic HCM TNNT2 ∆160 mice (n = 31) and non-transgenic (n = 33) mice (n = 64 total) in which differentially expressed lncRNAs are delineated. We determined the mouse lncRNA genes that have a human ortholog, which may be useful for future investigators aiming to study the role of particular lncRNAs in human HCM.
