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J Cancer. 2017 Oct 23;8(19):4011-4017. doi: 10.7150/jca.21218. eCollection 2017.

Heteroplasmy and Copy Number Variations of Mitochondria in 88 Hepatocellular Carcinoma Individuals.

Li W1,2, Qi Y3, Cui X1, Sun Y3, Huo Q3, Yang Y1, Wen X1, Tan M3, Du S3, Zhang H1,2, Zhang M1,2, Liu C1,2, Kong Q1,2.

Author information

Jining Medical University, Jining, Shandong 272067, China.
Collaborative Innovation Center for Birth Defect Research and Transformation of Shandong Province, Jining Medical University, Jining, Shandong 272067, China.
BGI-Shenzhen, Shenzhen, 518083, China.


Hepatocellular carcinoma (HCC) is the third leading cause of cancer mortality worldwide. In this study, we had analysed the copy number variations and heteroplasmic mutations of mitochondria (MT) in 88 HCC individuals. The average copy number of MT genome in normal samples was significantly greater than that in tumor samples. Overall, the number of heteroplasmic mutations in 88 tumor and their matched normal samples were 241 and 173, respectively. There was higher positive ratio of heteroplasmic mutations in tumor samples (86%) than normal samples (73%). Worthwhile mention, ND1 gene harbored greater mutation frequency and more nonsynonymous mutations in tumor samples. Interestingly, 202 tumor-specific heteroplasmic mutations were detected. Moreover, ND1, ND3, ND4, ND5 and ND6 genes had higher ratio of nonsynonymous versus synonymous mutations in tumor-specific heteroplasmic mutations. It might suggest that the disorder of NADH dehydrogenase (complex I) resulted by heteroplasmic mutations may have close relation with tumorigenesis of hepatocellular carcinoma. This study provided theoretical basis for further understanding mechanism of tumorigenesis from the perspective of mitochondrial heteroplasmic mutations.


Copy Number; Hepatocellular carcinoma.; Heteroplasmy; Mitochondrial Genome

Conflict of interest statement

Competing Interests: The authors have declared that no competing interest exists.

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