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
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INTRODUCTION

Hepatocellular carcinoma (HCC) is a primary malignancy of the liver and occurs predominantly in patients with underlying chronic liver disease and cirrhosis. It is a common cancer with 500,000-1,000,000 new cases annually, leading to ~600,000 deaths each year [1]. Clinically, HCC is characterized by its propensity to invade the vas-culature within the liver. For most patients with HCC, the diagnosis is delayed and the prognosis is poor. The median overall survival in patients with advanced HCC is less than 1 year, mainly owing to the absence of effective therapies [2]. However, when the diagnosis is confirmed, 70.0 to 80.0% of HCC patients have lost the opportunity to undergo complete tumor resection [3]. Thus, there is an urgent need to develop novel biomarkers for early diagnosis and detection of HCC. Mitochondria contain their own genetic material: the mitochondrial DNA (mtDNA), which encodes essential molecular elements required for electron transport by the respiratory chain where oxygen is consumed [4]. Due to the lack of histone protection and a poor DNA repair system, mtDNA has a higher mutation rate than nuclear DNA, somatic and germline mtDNA mutations have been reported for a wide variety of cancers, such as colon cancer, head and neck tumors [5,6]. It has also been shown that oxidative modified DNA is especially prone to mispairing of repetitive elements and is correlated with deletions; in fact, large scale deletions were among the first mtDNA mutations identified to cause human diseases [7]. Up to now, more than 100 deletions have been reported to be associated with various diseases (http://www.mitomap. org/). In this study, to explore the association between mitochondrial DNA (mtDNA) 4977 bp deletion and HCC, we initiated a comprehensive mutational screening for this deletion in 105 patients with HCC and 69 healthy subjects. Moreover, we evaluated the reactive oxygen species (ROS) level and mtDNA copy number in those subjects carrying these deletions.



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