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Hypertrophic Cardiomyopathy as an Oligogenic Disease: Transcriptomic Arguments

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Abstract—

Hypertrophic cardiomyopathy (HCM) is the most common genetically determined heart pathology and is often accompanied by fatal complications. Today, the traditional view of the monogenic origin of HCM is being replaced by the idea of it as an oligogenic disease, the clinical phenotype of which is determined not only by mutations in the genes encoding sarcomere proteins in cardiomyocytes, but also by the contribution of other genes (other sarcomeric genes, non-sarcomeric protein-coding modifier genes, and regulatory non-coding RNA genes). Transcriptome analysis is an informative approach for elucidating the nature of HCM, which allows one to evaluate the expression of all genes, evaluate the effect of mutations in a gene on its transcript level, and reveal the mechanisms involved in the regulation of gene expression. This review presents an analysis of published data on the spectra of genes whose differential expression has been detected in the myocardium during the development of HCM in humans and model animals. Special attention is paid to the genes of non-coding regulatory RNAs: miRNAs and long non-coding RNAs, which may be involved in the pathogenesis of the disease. We analyzed studies devoted to the investigation of miRNA levels in the blood of HCM patients to explore the available diagnostic and prognostic biomarkers of the disease. The totality of the reviewed data, despite their relative scarcity, indicates the effectiveness of transcriptome profiling in studying the molecular mechanisms of HCM pathogenesis.

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Funding

This study was supported by the Russian Science Foundation (grant no. 20-15-00353).

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  1. National Medical Research Center for Cardiology, 121552, Moscow, Russia

    N. M. Baulina, I. S. Kiselev, O. S. Chumakova & O. O. Favorova

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  1. N. M. Baulina
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  2. I. S. Kiselev
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  3. O. S. Chumakova
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Correspondence to N. M. Baulina.

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Transalted by M. Novikova

Abbreviations: SCD, sudden cardiac death; HCM, hypertrophic cardiomyopathy; iPSCs, induced pluripotent stem cells; LV, left ventricle; RAAS, renin-angiotensin-aldosterone system; lncRNA, long non-coding RNA; ncRNA, non-coding RNA; NGS, next generation sequencing.

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Baulina, N.M., Kiselev, I.S., Chumakova, O.S. et al. Hypertrophic Cardiomyopathy as an Oligogenic Disease: Transcriptomic Arguments. Mol Biol 54, 840–850 (2020). https://doi.org/10.1134/S0026893320060023

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