Ren Chang-Wei, Liu Jia-Ji, Li Jin-Hua, Li Jing-Wei, Dai Jiang, Lai Yong-Qiang
Department of Cardiac Surgery, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, P.R. China.
Mol Med Rep. 2016 Dec;14(6):5573-5586. doi: 10.3892/mmr.2016.5931. Epub 2016 Nov 8.
The mechanisms of hypertrophic cardiomyopathy (HCM) pathogenesis can be investigated by determining the differences between healthy and disease states at the molecular level. In the present study, large‑scale transcriptome sequencing was performed to compare mRNA expression in patients with HCM and control groups using an Illumina sequencing platform. Compared with the genome background, 257 differentially expressed genes (DEGs) were identified in which 62 genes were downregulated and 195 genes were upregulated. Reverse transcription‑quantitative polymerase chain reaction was performed to validate the expression pattern of certain mRNAs. Gene ontology enrichment and KEGG analysis of mRNAs was conducted to identify the biological modules and pathological pathways associated with the DEGs. To the best of our knowledge, this is the first time study to investigate the differences in mRNA between patients with HCM and normal controls at the transcriptome level. The results of the study will contributed to the understanding of the important molecular mechanisms involved in HCM and aid the selection of key genes to investigate in the future.
肥厚型心肌病（HCM）发病机制可通过在分子水平确定健康状态与疾病状态之间的差异来进行研究。在本研究中，使用Illumina测序平台进行大规模转录组测序，以比较HCM患者与对照组的mRNA表达。与基因组背景相比，鉴定出257个差异表达基因（DEG），其中62个基因下调，195个基因上调。进行逆转录定量聚合酶链反应以验证某些mRNA的表达模式。对mRNA进行基因本体富集和KEGG分析，以鉴定与DEG相关的生物模块和病理途径。据我们所知，这是首次在转录组水平研究HCM患者与正常对照之间mRNA的差异。该研究结果将有助于理解HCM涉及的重要分子机制，并有助于未来选择关键基因进行研究。
