Balkan Journal of Medical Genetics

ANALYSIS OF THE MITOCHONDRIAL 4977 bp DELETION IN PATIENTS WITH HEPATOCELLULAR CARCINOMA
Guo ZS1,§,*, Jin CL2,§, Yao ZJ1, Wang YM1, Xu BT3,* §The first two authors contributed equally for this study.
*Corresponding Author: Dr. Zhen-Shan Guo or Dr. Bo-Tao Xu, Zhuji People’s Hospital, Jianmin Road 9, Taozhu Street, Shaoxing, 311800, People’s Republic of China. Tel./Fax: +86-0575-81782103. E-mail: Dr. Zhen-Shan Guo: guozs001@126.com; Dr. Bo-Tao Xu: 375640722@qq.com
page: 81

RESULTS

Analysis of the Common Deletion in Mitochondrial DNA. Nested-PCR is a highly sensitive method for detecting large scale deletions, even at very low levels. To investigate clinical implications of the common mt deletion, we first extracted the DNA from HCC patients and the normal tissues, as well as 69 age- and sex-matched healthy subjects. We also summarized some clinical characteristics and other risk factors for HCC in these patients including gender, age, history of alcohol consumption and tumor metastasis (Table 1). Of the 105 HCC patients, 10 (9.52%) showed the 4977 bp deletion, while this deletion was absent in healthy subjects and normal tissues (Figure 1). By molecular level, the 4977 bp deletion occurs between two 13 bp direct repeats at position 13447-13459 and 8470-8482, removing all or part of the genes encoding four complex I subunits, one complex IV subunit, two complex V subunits and five transfer RNA (tRNA) genes, which are indispensable for maintaining normal mitochondrial function. Qualification of Mitochondrial DNA Copy Number. Alternations in mtDNA content have been reported in increasing numbers of cancer types [10]. To investigate the mtDNA copy number changes and to determine if there was a correlation between the 4977 bp deletion and the overall mtDNA content in HCC, we further analyzed the mtDNA copy numbers in those individuals carrying the 4977 bp deletion. For this purpose, we used real-time-PCR to determine the mtDNA content. As shown in Figure 2, the mtDNA content was significantly higher in HCC patients carrying the 4977 bp deletion when compared with the healthy subjects (p <0.05), suggesting that the 4977 bp deletion may increase the mtDNA copy number. Reactive Oxygen Species Analysis. As shown in Figure 3, the concentration of ROS was significantly higher in HCC patients than the controls (p <0.05).

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