TGFβ signaling pathway as an important pathway in Hypertrophic Cardiomyopathy disease by in-silico analysis

Background and Aim: Hypertrophic cardiomyopathy (HCM) is a genetic disorder of hypertrophied cardiac myocytes. Determination of the important genes and their roles in HCM disease may help to clarify the molecular mechanism of the disease. In this study, we aimed to determine the important genes and pathway in HCM disease by using bioinformatics analysis on expression profiles of hypertrophic cardiomyopathy patients.Methods: Differentially expressed genes were performed between the HCM patients and the normal samples of GSE۸۹۷۱۴. Then, differentially expressed genes with padj<۰.۰۵ and log۲FoldChange≠۱ were chosen to perform pathway analysis using DESeq۲ package in R software. Pathway analysis and Gene Ontology (GO) were accomplished by Enrichr and PANTHER database, respectively.Results: Our data revealed that ۲۷۰ genes were upregulated and ۱۶۱ genes were downregulated in patients. Most of differentially expressed genes were involved in protein digestion and absorption,TGFβ and Glycosominoglycan biosynthesis signaling pathways. Furthermore, GO depicted that differentially expressed genes involved in cellular and metabolic process, binding and catalytic activity, cell junction and extracellular region. The comparison analysis between transcriptome profiles of patients and normal counterparts revealed that BMP۸A, ID۴, INHBB, INHBA, GDF۶, FMOD, THBS۱, DCN and BMP۷ genes which involved in TGFβ signaling pathway, have differentially expressed in patients. Among these genes, FMOD displayed the utmost upregulation (logFC = ۳.۱۰) and BMP۷ gene demonstrated the highest downregulation (logFC = -۳.۶۵) in patients.Conclusion: As a result, this study exhibited that TGFβ signaling pathway can be one of the important pathways involved in HCM disease and determining the mRNAs in this pathway would shed more light on molecular processes of HCM disease.

Keywords:

Hypertrophic cardiomyopathy , TGFβ signaling pathways , differentially expressed mRNAs