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Updated: Oct 20, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Reconnoitering the Role of Long-Noncoding RNAs in Hypertrophic Cardiomyopathy: A Descriptive Review
Syeda K Shahzadi1, Nerissa Naidoo1, Alawi Alsheikh-Ali1,2
1Department of Basic Medical Sciences, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai 505055, United Arab Emirates.
Insights
Hypertrophic cardiomyopathy (HCM) involves genetic heart muscle thickening. Long non-coding RNAs (lncRNAs) are emerging as key players in HCM development, influencing calcium handling and mitochondrial function.
Area of Science:
- Genetics
- Molecular Biology
- Cardiology
Background:
- Hypertrophic cardiomyopathy (HCM) is a primary genetic heart disorder.
- HCM results from mutations in genes encoding cardiac sarcomere proteins.
- Enhanced myofilament calcium sensitivity is central to HCM pathophysiology.
Purpose of the Study:
- To review the regulatory and functional roles of long non-coding RNAs (lncRNAs) in HCM.
- To highlight the involvement of lncRNAs in HCM pathogenesis.
- To explore the connection between lncRNAs, sarcomere function, and calcium homeostasis.
Main Methods:
- Literature review of studies on lncRNAs and HCM.
- Analysis of current evidence on lncRNA dysregulation in HCM.
- Synthesis of findings on lncRNA roles in sarcomere biology and calcium handling.
Main Results:
- lncRNAs are dysregulated in HCM patients.
- lncRNAs are implicated in sarcomere structure and function.
- lncRNAs influence calcium channeling and mitochondrial homeostasis in HCM.
Conclusions:
- lncRNAs represent a significant, yet underexplored, factor in HCM.
- Dysregulated lncRNAs contribute to HCM pathophysiology.
- Further research into lncRNAs may reveal novel therapeutic targets for HCM.
Abstract:
Hypertrophic cardiomyopathy (HCM) is the most common form of hereditary cardiomyopathy. It is characterized by an unexplained non-dilated hypertrophy of the left ventricle with a conserved or elevated ejection fraction. It is a genetically heterogeneous disease largely caused by variants of genes encoding for cardiac sarcomere proteins, including MYH7, MYBPC3, ACTC1, TPM1, MYL2, MYL3, TNNI3, and TNNT23. Preclinical evidence indicates that the enhanced calcium sensitivity of the myofilaments plays a key role in the pathophysiology of HCM. Notably, this is not always a direct consequence of sarcomeric variations but may also result from secondary mutation-driven alterations. Long non-coding RNAs (lncRNAs) are a large class of transcripts ≥200 nucleotides in length that do not encode proteins. Compared to coding mRNAs, most lncRNAs are not as well-annotated and their functions are greatly unexplored. Nevertheless, increasing evidence shows that lncRNAs are involved in a variety of biological processes and diseases including HCM. Accumulating evidence has indicated that lncRNAs are dysregulated in HCM, and closely related to sarcomere construction, calcium channeling and homeostasis of mitochondria. In this review, we have summarized the known regulatory and functional roles of lncRNAs in HCM.
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