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Circulating MicroRNAs Identify Early Phenotypic Changes in Sarcomeric Hypertrophic Cardiomyopathy
Carmen C Sucharov1, Bonnie Neltner1, Ashley E Pietra2
1Division of Cardiology, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora (C.C.S., B.N.).
Circulation. Heart Failure
|March 7, 2023
Summary
Circulating microRNAs (miRNAs) can help distinguish between healthy individuals and those with hypertrophic cardiomyopathy (HCM), and even stratify disease stages in sarcomere variant carriers.
Area of Science:
- Cardiovascular Genetics
- Molecular Diagnostics
- Biomarker Discovery
Background:
- Hypertrophic cardiomyopathy (HCM) is a primary genetic heart condition caused by sarcomere gene mutations.
- Clinical diagnosis of HCM often occurs late, with limited understanding of early disease progression.
- Mechanisms driving the transition from genetic predisposition to overt HCM remain unclear.
Purpose of the Study:
- To investigate the potential of circulating microRNAs (miRNAs) for stratifying disease stages in sarcomeric HCM.
- To identify specific miRNA profiles associated with different stages of HCM in variant carriers.
- To explore miRNAs as biomarkers for early detection and monitoring of HCM.
Main Methods:
- Serum samples were collected from HCM sarcomere variant carriers (clinical and subclinical) and healthy controls.
- A comprehensive array analysis was performed to profile 381 circulating miRNAs.
- Statistical methods including random forest, Wilcoxon rank sum test, and logistic regression were employed for differential expression analysis, with normalization to miRNA-320.
Main Results:
- Circulating miRNA profiles successfully differentiated healthy controls from both subclinical and clinical HCM groups.
- Distinct miRNA signatures identified clinical HCM versus subclinical HCM without early phenotypic changes.
- MiRNA profiles also distinguished between subclinical HCM with and without early phenotypic changes.
- No significant differentiation was observed between clinical HCM and subclinical HCM with early phenotypic changes, suggesting biological overlap.
Conclusions:
- Circulating miRNAs show promise as biomarkers for augmenting clinical stratification in HCM.
- These findings enhance the understanding of the transition from a healthy state to overt disease in sarcomere gene variant carriers.
- Further research into miRNA profiles could lead to improved early diagnosis and management strategies for HCM.
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