Key result
MicroRNAs are implicated in the pathogenesis and diagnosis of arrhythmogenic cardiomyopathy, a disease where pathogenic variants are identified in nearly 50% of affected patients.
Why the study?
Arrhythmogenic cardiomyopathy exhibits incomplete penetrance and phenotypic variability, suggesting non-genetic factors like microRNAs may modulate disease pathogenesis and serve as diagnostic biomarkers.
This review highlights the potential of microRNAs as biomarkers and modulators of disease progression in arrhythmogenic cardiomyopathy, while noting methodological flaws in existing studies.
Current evidence on miRNAs in arrhythmogenic cardiomyopathy is limited by methodological flaws; prospective validation studies needed before clinical consideration.
Arrhythmogenic cardiomyopathy (AC) is an inherited cardiac disease characterized by a progressive fibro-fatty replacement of the working myocardium and by life-threatening arrhythmias and risk of sudden cardiac death. Pathogenic variants are identified in nearly 50% of affected patients mostly in genes encoding for desmosomal proteins. AC incomplete penetrance and phenotypic variability advocate that other factors than genetics may modulate the disease, such as microRNAs (miRNAs). MiRNAs are small noncoding RNAs with a primary role in gene expression regulation and network of cellular processes. The implication of miRNAs in AC pathogenesis and their role as biomarkers for early disease detection or differential diagnosis has been the objective of multiple studies employing diverse designs and methodologies to detect miRNAs and measure their expression levels. Here we summarize experiments, evidence, and flaws of the different studies and hitherto knowledge of the implication of miRNAs in AC pathogenesis and diagnosis.
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Marinas et al. (2020) conducted a review in Arrhythmogenic cardiomyopathy (AC). microRNAs was evaluated. MicroRNAs are implicated in the pathogenesis and diagnosis of arrhythmogenic cardiomyopathy, a disease where pathogenic variants are identified in nearly 50% of affected patients.
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