<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>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 <italic>via</italic> the alternation of mtDNA copy number and oxidative stress.</p>
</abstract>

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.

Analysis of the mitochondrial 4977 bp deletion in patients with hepatocellular carcinoma

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Mutations in the mitochondrial (mt) genome that result in mt dysfunction, have long been proposed to play important roles in the pathogenesis of hepatocellular...

Parameters	Number of HCC Patients	mtDNA 4977 bp Deletion Frequency n (%)
Cases	104	10 (9.52)

Males	65	6 (5.71)
Females	40	4 (3.81)

Age ≥ 55	75	7 (6.67)
Age <55	30	3 (2.85)

History of alcohol consumption:
yes	85	10 (9.52)
no	20	0 (0.00)

Metastasis:
positive	35	4 (3.81)
negative	70	6 (5.71)

Analysis of the mitochondrial 4977 bp deletion in patients with hepatocellular carcinoma

Article Category: Original Article

Published Online: Jun 30, 2017

Page range: 81 - 86

DOI: https://doi.org/10.1515/bjmg-2017-0006

Keywords
Hepatocellular carcinoma (HCC), Mitochondrial DNA (mtDNA), 4977 bp deletion, Copy number, reactive oxygen species (ROS)

© 2017 Guo ZS, Jin CL, Yao ZJ, Wang YM, Xu BT

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

Figure 2

Figure 3

Characterization of patients with hepatocellular carcinoma.

Analysis of the mitochondrial 4977 bp deletion in patients with hepatocellular carcinoma

Article Category: Original Article

Published Online: Jun 30, 2017

Page range: 81 - 86

DOI: https://doi.org/10.1515/bjmg-2017-0006

KeywordsHepatocellular carcinoma (HCC), Mitochondrial DNA (mtDNA), 4977 bp deletion, Copy number, reactive oxygen species (ROS)

© 2017 Guo ZS, Jin CL, Yao ZJ, Wang YM, Xu BT

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

Figure 2

Figure 3

Characterization of patients with hepatocellular carcinoma.

Keywords
Hepatocellular carcinoma (HCC), Mitochondrial DNA (mtDNA), 4977 bp deletion, Copy number, reactive oxygen species (ROS)