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Published on: August 8, 2022
Serum circular RNAs act as blood-based biomarkers for hypertrophic obstructive cardiomyopathy
Kristina Sonnenschein1,2, Adriana Luisa Wilczek1, David de Gonzalo-Calvo1,3,4,5
1Institute of Molecular and Translational Therapeutic Strategies (IMTTS), Hannover Medical School, Hannover, Germany.
Insights
Circulating circular RNAs (circRNAs) like DNAJC6, TMEM56, and MBOAT2 are downregulated in hypertrophic cardiomyopathy (HCM) patients. These biomarkers effectively distinguish HCM from healthy individuals and indicate disease severity in obstructive HCM.
Area of Science:
- Cardiovascular Biology
- Molecular Diagnostics
- Genetics
Background:
- Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease linked to sudden cardiac death.
- HCM involves cardiomyocyte hypertrophy, disarray, and fibrosis, with obstructive (HOCM) and non-obstructive (HNCM) forms requiring tailored treatments.
- Identifying reliable biomarkers for HCM diagnosis and severity assessment is crucial for personalized medicine.
Purpose of the Study:
- To investigate circulating circular RNAs (circRNAs) as potential diagnostic and prognostic biomarkers for HCM.
- To evaluate the expression levels of specific circRNAs (circDNAJC6, circTMEM56, circMBOAT2) in HCM patients compared to healthy controls.
- To correlate circRNA expression with clinical parameters and disease subtypes (HNCM, HOCM).
Main Methods:
- Quantitative measurement of circRNA expression (circDNAJC6, circTMEM56, circMBOAT2) in serum samples from 64 HCM patients and 53 healthy controls.
- Statistical analysis to compare circRNA levels between groups and correlate them with clinical and echocardiographic data.
- Receiver operating characteristic (ROC) curve analysis to assess the diagnostic performance of circRNAs.
Main Results:
- Serum levels of circDNAJC6, circTMEM56, and circMBOAT2 were significantly downregulated in HCM patients compared to controls.
- These circRNAs demonstrated robust diagnostic capacity for distinguishing HCM, HNCM, and HOCM from healthy individuals (AUCs 0.722–0.949).
- circTMEM56 and circDNAJC6 levels negatively correlated with echocardiographic parameters in HOCM, suggesting a role in indicating disease severity.
Conclusions:
- circDNAJC6, circTMEM56, and circMBOAT2 are promising circulating biomarkers for differentiating HCM patients from healthy individuals.
- circTMEM56 and circDNAJC6 may serve as indicators of disease severity in obstructive hypertrophic cardiomyopathy (HOCM).
- Circulating circRNAs hold potential for facilitating personalized clinical decision-making in HCM management.
Abstract:
Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary heart diseases and is associated with a high risk of sudden cardiac death. HCM is characterized by pronounced hypertrophy of cardiomyocytes, fiber disarray and development of fibrosis and can be divided into a non-obstructive (HNCM) and obstructive form (HOCM) therefore requiring personalized therapeutic therapies. In the present study, we investigated the expression patterns of several circulating circular RNAs (circRNAs) as potential biomarkers in patients with HCM. We included 64 patients with HCM and 53 healthy controls to the study and quantitatively measured the expression of a set of circRNAs already known to be associated with cardiac diseases (circDNAJC6) and/or being highly abundant in blood (circTMEM56 and circMBOAT2). Abundancy of circRNAs was then correlated to relevant clinical parameters. Serum expression levels of circRNAs DNAJC6, TMEM56 and MBOAT2 were downregulated in patients with HCM. The inverse association between circRNA levels and HCM remained unchanged even after adjusting for confounding factors. All circRNAs, evaluated separately or in combination, showed a robust discrimination capacity when comparing control subjects with HCM, HNCM or HOCM patients (AUC from 0.722 to 0.949). Two circRNAs, circTMEM56 and circDNAJC6, significantly negatively correlated with echocardiographic parameters for HOCM. Collectively, circulating circRNAs DNAJC6, TMEM56 and MBOAT2 can distinguish between healthy and HCM patients. In addition, circTMEM56 and circDNAJC6 could serve as indicators of disease severity in patients with HOCM. Thus, circRNAs emerge as novel biomarkers for HCM facilitating the clinical decision making in a personalized manner.
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