Life Science Institute, Guangxi Medical University, Nanning, China.
Key Laboratory of Early Prevention and Treatment for Regional High Frequency Tumor (Guangxi Medical University), Ministry of Education, Guangxi Key Laboratory of Early Prevention and Treatment for Regional High Frequency Tumor, Nanning, China.
Genes Genomics. 2023 Jul;45(7):855-866. doi: 10.1007/s13258-023-01376-8. Epub 2023 May 3.
Non-voltage-gated sodium channel, also known as the epithelial sodium channel (ENaC), formed by heteromeric complexes consisting of SCNN1A, SCNN1B, and SCNN1G, is responsible for maintaining sodium ion and body fluid homeostasis in epithelial cells. However, no systematic study of SCNN1 family members has been conducted in renal clear cell carcinoma (ccRCC) to date.
To investigate the abnormal expression of SCNN1 family in ccRCC and its potential correlation with clinical parameters.
The transcription and protein expression levels of SCNN1 family members in ccRCC were analyzed based on the TCGA database, and were confirmed by quantitative RT-PCR and immunohistochemical staining assays, respectively. The area under curve (AUC) was used to evaluate the diagnostic value of SCNN1 family members for ccRCC patients.
The mRNA and protein expression of SCNN1 family members was significantly downregulated in ccRCC compared with normal kidney tissues, which might be due to DNA hypermethylation in the promoter region. It is worth noting that the AUC of SCNN1A, SCNN1B, and SCNN1G were 0.965, 0.979, and 0.988 based on the TCGA database (p < 0.0001), respectively. The diagnostic value was even higher when combing these three members together (AUC = 0.997, p < 0.0001). Intriguingly, the mRNA level of SCNN1A was significantly lower in females compared with males, while SCNN1B and SCNN1G were increased with the progression of ccRCC and remarkably associated with a worse outcome for patients.
The aberrantly decrease of SCNN1 family members might serve as valuable biomarkers for the diagnosis of ccRCC.
非电压门控钠离子通道,又称上皮钠离子通道(ENaC),由 SCNN1A、SCNN1B 和 SCNN1G 组成的异源三聚体复合物构成,负责维持上皮细胞中的钠离子和体液内稳态。然而,迄今为止,尚未对肾透明细胞癌(ccRCC)中的 SCNN1 家族成员进行系统研究。
研究 SCNN1 家族在 ccRCC 中的异常表达及其与临床参数的潜在相关性。
基于 TCGA 数据库分析 SCNN1 家族成员在 ccRCC 中的转录和蛋白表达水平,并分别通过定量 RT-PCR 和免疫组织化学染色实验进行验证。采用曲线下面积(AUC)评估 SCNN1 家族成员对 ccRCC 患者的诊断价值。
与正常肾组织相比,ccRCC 中 SCNN1 家族成员的 mRNA 和蛋白表达显著下调,这可能是由于启动子区域的 DNA 过度甲基化所致。值得注意的是,基于 TCGA 数据库,SCNN1A、SCNN1B 和 SCNN1G 的 AUC 分别为 0.965、0.979 和 0.988(p<0.0001)。当结合这三个成员时,诊断价值更高(AUC=0.997,p<0.0001)。有趣的是,SCNN1A 的 mRNA 水平在女性中明显低于男性,而 SCNN1B 和 SCNN1G 则随着 ccRCC 的进展而增加,并与患者的预后显著相关。
SCNN1 家族成员的异常下调可能成为诊断 ccRCC 的有价值的生物标志物。