Faculty of Public Health, College of Medicine of Xi'an Jiaotong University, Key Laboratory of Environment and Gene Related Diseases of Ministry Education, Key Laboratory of Trace Elements and Endemic Diseases, Ministry of Health, Xi'an 710061, China; Department of Orthopedics Surgery, The First Affiliated Hospital, College of Medicine of Xi'an Jiaotong University, Xi'an 710061, China.
Department of Orthopedics Surgery, The Second Affiliated Hospital, College of Medicine, Xi'an Jiaotong University, Xi'an 710004, China.
Gene. 2014 Feb 10;535(2):124-30. doi: 10.1016/j.gene.2013.11.050. Epub 2013 Dec 4.
Kashin-Beck disease (KBD) is a special type of endemic osteoarthritis. It has been suggested that alterations in selenium metabolism and apoptosis play a role in KBD. However, the underlying molecular mechanism remains largely unclear. We performed a microarray analysis using RNA isolated from cartilages of KBD patients and healthy controls, through Significance Analysis of Microarray (SAM) software. Functional gene networks and crucial molecules associated with differentially expressed genes were investigated via Ingenuity Pathway Analysis (IPA) and hub gene analysis. Quantitative real-time PCR was used to check the validation of chip test. We identified 52 up-regulated apoptosis-related genes and 26 down-regulated selenium-related genes between KBD and controls, and these genes associated with the "MYC-mediated apoptosis signaling pathway". We confirmed the results from array studies with quantitative real-time PCR analysis. Our results suggest that abnormal regulation of selenium metabolism and apoptosis through the MYC mediated signaling pathway contributes to the pathogenesis of KBD, but the relationship between apoptosis gene and selenium gene was not found.
大骨节病（KBD）是一种特殊类型的地方性骨关节炎。有研究表明，硒代谢和细胞凋亡的改变在 KBD 中起作用。然而，其潜在的分子机制在很大程度上尚不清楚。我们使用从 KBD 患者和健康对照者的软骨中分离的 RNA 进行了微阵列分析，通过 Significance Analysis of Microarray (SAM) 软件进行分析。通过 Ingenuity Pathway Analysis (IPA) 和枢纽基因分析研究了与差异表达基因相关的功能基因网络和关键分子。使用定量实时 PCR 检查芯片测试的验证。我们发现 KBD 组和对照组之间有 52 个上调的凋亡相关基因和 26 个下调的硒相关基因，这些基因与“MYC 介导的凋亡信号通路”相关。我们用定量实时 PCR 分析验证了芯片研究的结果。我们的结果表明，通过 MYC 介导的信号通路异常调节硒代谢和细胞凋亡可能导致 KBD 的发病机制，但未发现凋亡基因与硒基因之间的关系。
