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首页> 外文期刊>Balkan journal of medical genetics: BJMG >ANALYSIS OF THE MITOCHONDRIAL 4977 bp DELETION IN PATIENTS WITH HEPATOCELLULAR CARCINOMA
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ANALYSIS OF THE MITOCHONDRIAL 4977 bp DELETION IN PATIENTS WITH HEPATOCELLULAR CARCINOMA

机译：肝细胞癌患者的线粒体4977 BP缺失分析

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摘要

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 via the alternation of mtDNA copy number and oxidative stress.
机译：长期以来已经提出了导致MT功能障碍的线粒体（MT）基因组中的突变在肝细胞癌（HCC）的发病机制中起重要作用。其中，常见的MTDNA 4977 BP缺失是在各种癌症中观察到的最常见的突变之一。为了了解MTDNA 4977 BP缺失和HCC之间的关系，我们对105例HCC患者和69个无关的健康受试者进行了这种缺失的突变筛选。在嵌套聚合酶链反应（巢式PCR）扩增后，我们发现有10名携带MTDNA 4977 BP缺失的患者，并且对照对象不存在这种缺失。此外，与健康对照相比，携带该缺失的HCC患者显示出活性氧物质（ROS）水平和MTDNA拷贝数的显着增加。我们的数据表明，MTDNA 4977 BP缺失可能在HCC的致癌物中发挥重要作用，可能通过MTDNA拷贝数和氧化应激的交替。

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