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.

中文翻译：

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肥厚型心肌病是一种寡发性疾病：转录组学说

摘要-

肥厚型心肌病（HCM）是最常见的遗传决定的心脏病理，通常伴有致命的并发症。如今，传统的关于HCM单基因起源的观点已被其作为一种寡聚性疾病的观念所取代，其临床表型不仅取决于心肌细胞中编码肌节蛋白的基因的突变，而且还取决于HCM的贡献。其他基因（其他肌节基因，非肌节蛋白编码修饰基因和调节性非编码RNA基因）。转录组分析是一种阐明HCM性质的信息方法，它使人们能够评估所有基因的表达，评估基因突变对其转录水平的影响，并揭示参与基因表达调控的机制。这篇综述提供了关于人类和模型动物中HCM发育过程中在心肌中检测到差异表达的基因谱图的公开数据分析。特别注意非编码调控RNA的基因：miRNA和长的非编码RNA，它们可能与疾病的发病机制有关。我们分析了专门研究HCM患者血液中miRNA水平的研究，以探索该疾病的可用诊断和预后生物标志物。回顾性数据的总数尽管相对不足，但表明转录组谱分析在研究HCM发病机理的分子机制中的有效性。