Quantification of cell-free circulating mitochondrial DNA copy number variation in hepatocellular carcinoma

SUMMARY OBJECTIVE: Hepatocellular carcinoma is the most common primary malignant liver tumor. Mitochondrial DNA copy number has been shown to be associated with various malignancies. However, there has not been any study on the absolute quantification of mtDNA copy number in hepatocellular carcinoma. The aim of this study was to develop a new method for absolute quantification of mtDNA copy number and to relatively quantify the variations in the mtDNA copy number in hepatocellular carcinoma patients in comparison with healthy individuals. METHODS: Venous blood samples were collected from both hepatocellular carcinoma patients (34) and healthy individuals (34). Circulating cell-free DNAs were isolated and the relative quantification of mtDNA copy number variation was determined using quantitative polymerase chain reaction and digital polymerase chain reaction. RESULTS: It was found that the relative mtDNA copy number was significantly decreased in hepatocellular carcinoma patients in comparison with the control group (p<0.05). The median (range) and average of relative mtDNA/β-actin gene of the patients were determined as 42.8 cp/μL (11.1–88.5) and 45.1 cp/μL, respectively, while the median (range) and average relative mtDNA/β-actin gene of the control group were determined as 102.8 cp/μL (55.1–291.8) and 138.7 cp/μL, respectively (p<0.05). When quantitative polymerase chain reaction and digital polymerase chain reaction were compared, mtDNA/β-actin gene copy number ratio of digital polymerase chain reaction results was found to be 1.76-fold more than that of quantitative polymerase chain reaction results. CONCLUSION: Circulating mtDNA copy number was decreased in hepatocellular carcinoma patients in comparison with healthy individuals, and we suggest that it can be used as a noninvasive biomarker for hepatocellular carcinoma diagnosis in the future.

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Main Authors: Yalçınkaya,Burhanettin, Tastekin,Didem, Güzelbulut,Fatih, Akgoz,Muslum, Pençe,Sadrettin
Format: Digital revista
Language:English
Published: Associação Médica Brasileira 2022
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302022000901161
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spelling oai:scielo:S0104-423020220009011612022-11-23Quantification of cell-free circulating mitochondrial DNA copy number variation in hepatocellular carcinomaYalçınkaya,BurhanettinTastekin,DidemGüzelbulut,FatihAkgoz,MuslumPençe,Sadrettin Mitochondria CfDNA HCC dPCR SUMMARY OBJECTIVE: Hepatocellular carcinoma is the most common primary malignant liver tumor. Mitochondrial DNA copy number has been shown to be associated with various malignancies. However, there has not been any study on the absolute quantification of mtDNA copy number in hepatocellular carcinoma. The aim of this study was to develop a new method for absolute quantification of mtDNA copy number and to relatively quantify the variations in the mtDNA copy number in hepatocellular carcinoma patients in comparison with healthy individuals. METHODS: Venous blood samples were collected from both hepatocellular carcinoma patients (34) and healthy individuals (34). Circulating cell-free DNAs were isolated and the relative quantification of mtDNA copy number variation was determined using quantitative polymerase chain reaction and digital polymerase chain reaction. RESULTS: It was found that the relative mtDNA copy number was significantly decreased in hepatocellular carcinoma patients in comparison with the control group (p<0.05). The median (range) and average of relative mtDNA/β-actin gene of the patients were determined as 42.8 cp/μL (11.1–88.5) and 45.1 cp/μL, respectively, while the median (range) and average relative mtDNA/β-actin gene of the control group were determined as 102.8 cp/μL (55.1–291.8) and 138.7 cp/μL, respectively (p<0.05). When quantitative polymerase chain reaction and digital polymerase chain reaction were compared, mtDNA/β-actin gene copy number ratio of digital polymerase chain reaction results was found to be 1.76-fold more than that of quantitative polymerase chain reaction results. CONCLUSION: Circulating mtDNA copy number was decreased in hepatocellular carcinoma patients in comparison with healthy individuals, and we suggest that it can be used as a noninvasive biomarker for hepatocellular carcinoma diagnosis in the future.info:eu-repo/semantics/openAccessAssociação Médica BrasileiraRevista da Associação Médica Brasileira v.68 n.9 20222022-09-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302022000901161en10.1590/1806-9282.20210368
institution SCIELO
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country Brasil
countrycode BR
component Revista
access En linea
databasecode rev-scielo-br
tag revista
region America del Sur
libraryname SciELO
language English
format Digital
author Yalçınkaya,Burhanettin
Tastekin,Didem
Güzelbulut,Fatih
Akgoz,Muslum
Pençe,Sadrettin
spellingShingle Yalçınkaya,Burhanettin
Tastekin,Didem
Güzelbulut,Fatih
Akgoz,Muslum
Pençe,Sadrettin
Quantification of cell-free circulating mitochondrial DNA copy number variation in hepatocellular carcinoma
author_facet Yalçınkaya,Burhanettin
Tastekin,Didem
Güzelbulut,Fatih
Akgoz,Muslum
Pençe,Sadrettin
author_sort Yalçınkaya,Burhanettin
title Quantification of cell-free circulating mitochondrial DNA copy number variation in hepatocellular carcinoma
title_short Quantification of cell-free circulating mitochondrial DNA copy number variation in hepatocellular carcinoma
title_full Quantification of cell-free circulating mitochondrial DNA copy number variation in hepatocellular carcinoma
title_fullStr Quantification of cell-free circulating mitochondrial DNA copy number variation in hepatocellular carcinoma
title_full_unstemmed Quantification of cell-free circulating mitochondrial DNA copy number variation in hepatocellular carcinoma
title_sort quantification of cell-free circulating mitochondrial dna copy number variation in hepatocellular carcinoma
description SUMMARY OBJECTIVE: Hepatocellular carcinoma is the most common primary malignant liver tumor. Mitochondrial DNA copy number has been shown to be associated with various malignancies. However, there has not been any study on the absolute quantification of mtDNA copy number in hepatocellular carcinoma. The aim of this study was to develop a new method for absolute quantification of mtDNA copy number and to relatively quantify the variations in the mtDNA copy number in hepatocellular carcinoma patients in comparison with healthy individuals. METHODS: Venous blood samples were collected from both hepatocellular carcinoma patients (34) and healthy individuals (34). Circulating cell-free DNAs were isolated and the relative quantification of mtDNA copy number variation was determined using quantitative polymerase chain reaction and digital polymerase chain reaction. RESULTS: It was found that the relative mtDNA copy number was significantly decreased in hepatocellular carcinoma patients in comparison with the control group (p<0.05). The median (range) and average of relative mtDNA/β-actin gene of the patients were determined as 42.8 cp/μL (11.1–88.5) and 45.1 cp/μL, respectively, while the median (range) and average relative mtDNA/β-actin gene of the control group were determined as 102.8 cp/μL (55.1–291.8) and 138.7 cp/μL, respectively (p<0.05). When quantitative polymerase chain reaction and digital polymerase chain reaction were compared, mtDNA/β-actin gene copy number ratio of digital polymerase chain reaction results was found to be 1.76-fold more than that of quantitative polymerase chain reaction results. CONCLUSION: Circulating mtDNA copy number was decreased in hepatocellular carcinoma patients in comparison with healthy individuals, and we suggest that it can be used as a noninvasive biomarker for hepatocellular carcinoma diagnosis in the future.
publisher Associação Médica Brasileira
publishDate 2022
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302022000901161
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