Guo Z S, Jin C L, Yao Z J, Wang Y M, Xu B T
Department of Hepatobiliary Surgery, Zhuji People's Hospital, Shaoxing, People's Republic of China.
Department of Endocrinology, Zhuji People's Hospital, Shaoxing, People's Republic of China.
Balkan J Med Genet. 2017 Jun 30;20(1):81-86. doi: 10.1515/bjmg-2017-0006.
Mutations in the mitochondrial (mt) genome that result in mt dysfunction, have long been proposed to play important roles in the pathogenesis of hepatocellular carcinoma (HCC). Among these, the common mtDNA 4977 bp deletion is one of the most frequent mutations observed in various cancers. To understand the relationship between the mtDNA 4977 bp deletion and HCC, we performed mutational screening for the presence of this deletion in 105 HCC patients and 69 unrelated healthy subjects. After nested-polymerase chain reaction (nested-PCR) amplification, we found that there were 10 patients carrying the mtDNA 4977 bp deletion, and this deletion was absent in control subjects. Moreover, HCC patients carrying this deletion showed a marked increase in reactive oxygen species (ROS) level and mtDNA copy number when compared with the healthy controls. Taken together, our data indicated that the mtDNA 4977 bp deletion may play important role in the carcinogenesis of HCC, possibly the alternation of mtDNA copy number and oxidative stress.
长期以来，人们一直认为线粒体（mt）基因组中的突变会导致线粒体功能障碍，在肝细胞癌（HCC）的发病机制中起重要作用。其中，常见的线粒体DNA 4977 bp缺失是在各种癌症中观察到的最常见突变之一。为了了解线粒体DNA 4977 bp缺失与肝细胞癌之间的关系，我们对105例肝细胞癌患者和69名无关健康受试者进行了该缺失的突变筛查。经过巢式聚合酶链反应（nested-PCR）扩增后，我们发现有10例患者携带线粒体DNA 4977 bp缺失，而对照组中未发现该缺失。此外，与健康对照组相比，携带该缺失的肝细胞癌患者的活性氧（ROS）水平和线粒体DNA拷贝数显著增加。综上所述，我们的数据表明线粒体DNA 4977 bp缺失可能在肝细胞癌的致癌过程中起重要作用，可能与线粒体DNA拷贝数的改变和氧化应激有关。
