Department of Radiotherapy, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450014, P.R. China.
Department of Pharmacology, School of Basic Medicine of Zhengzhou University, Zhengzhou, Henan 450001, P.R. China.
Mol Med Rep. 2017 Dec;16(6):8537-8541. doi: 10.3892/mmr.2017.7663. Epub 2017 Sep 29.
The aim of the present study was to detect mutations in the coding genes of mitochondrial DNA (mtDNA) in three esophageal cancer cell lines and in tumor tissues obtained from 30 patients with esophageal cancer, to investigate the relationship between protein‑ and RNA‑coding gene mutations and esophageal cancer. mtDNA was extracted and the coding genes were sequenced and analyzed by comparing the sequencing results with the complete mitochondrial genome of Homo sapiens. The results revealed 39 mutations in the three esophageal cancer cell lines; the genes with the highest mutation frequencies included mitochondrially encoded cytochrome B (MT‑CYTB), NADH dehydrogenase 5 (MT‑ND5) and MT‑ND4 gene. A total of 216 mutations were identified in the 30 esophageal cancer tissues, including 182 protein‑coding mutations, of which MT‑CYTB and MT‑ND5 genes exhibited higher mutation frequencies. The results of the present study indicated that mutations in the coding genes of mtDNA in esophageal cancer cells may be related to the occurrence of esophageal cancer.
本研究旨在检测 3 种食管癌细胞系和 30 例食管癌患者肿瘤组织中线粒体 DNA（mtDNA）编码基因的突变，探讨蛋白编码基因和 RNA 编码基因突变与食管癌的关系。提取 mtDNA，测序并与人类完整线粒体基因组进行比较，分析编码基因。结果显示，在 3 种食管癌细胞系中发现 39 种突变；突变频率最高的基因包括线粒体编码细胞色素 B（MT-CYTB）、NADH 脱氢酶 5（MT-ND5）和 MT-ND4 基因。在 30 例食管癌组织中鉴定出 216 种突变，包括 182 种蛋白编码突变，其中 MT-CYTB 和 MT-ND5 基因的突变频率较高。本研究结果表明，食管癌细胞 mtDNA 编码基因的突变可能与食管癌的发生有关。
