Гипертрофическая кардиомиопатия как олигогенное заболевание: аргументы транскриптомики
| Autor: | O S Chumakova, Ivan Kiselev, Natalia Baulina, Olga O. Favorova |
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| Rok vydání: | 2020 |
| Předmět: |
Regulation of gene expression
0303 health sciences 030302 biochemistry & molecular biology Hypertrophic cardiomyopathy General Medicine Computational biology Biology medicine.disease Human genetics Long non-coding RNA Transcriptome 03 medical and health sciences microRNA Gene expression medicine cardiovascular diseases Gene |
| Zdroj: | Молекулярная биология. 54:955-967 |
| ISSN: | 0026-8984 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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