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

Analysis of the mitochondrial 4977 bp deletion in patients with hepatocellular carcinoma AbstractMutations 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Balkan Journal of Medical Genetics de Gruyter

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

Guo, ZS; Jin, CL; Yao, ZJ; Wang, YM; Xu, BT
Balkan Journal of Medical Genetics , Volume 20 (1): 6 – Jun 1, 2017
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Publisher
de Gruyter
Copyright
© 2017 Guo ZS, Jin CL, Yao ZJ, Wang YM, Xu BT
ISSN
1311-0160
eISSN
1311-0160
DOI
10.1515/bjmg-2017-0006
Publisher site
See Article on Publisher Site

Abstract

AbstractMutations 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.

Journal

Balkan Journal of Medical Genetics – de Gruyter

Published: Jun 1, 2017

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

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