Blood Res 2018; 53(3):
Published online September 28, 2018
https://doi.org/10.5045/br.2018.53.3.240
© The Korean Society of Hematology
1College of Korean Medicine, Dongshin University, Naju, Korea.
2Department of Laboratory Medicine, Gwangyang Sarang General Hospital, Gwangyang, Korea.
3Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, Hwasun, Korea.
4Brain Korea 21 Plus Project, Chonnam National University Medical School, Gwangju, Korea.
5Environmental Health Center for Childhood Leukemia and Cancer, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, Hwasun, Korea.
Correspondence to : Correspondence to Myun-Geun Shin, M.D., Ph.D. Department of Laboratory Medicine, Chonnam National University Medical School, Chonnam National University Hwasun Hospital, 322 Seoyang-ro, Hwasun-eup, Hwasun-gun, Jeonnam 58128, Korea. mgshin@chonnam.ac.kr
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Mitochondrial DNA (mtDNA) mutations may regulate the progression and chemosensitivity of leukemia. Few studies regarding mitochondrial aberrations and haplogroups in acute myeloid leukemia (AML) and their clinical impacts have been reported. Therefore, we focused on the mtDNA length heteroplasmies minisatellite instability (MSI), copy number alterations, and distribution of mitochondrial haplogroups in Korean patients with AML.
This study investigated 74 adult patients with AML and 70 controls to evaluate mtDNA sequence alterations, MSI, mtDNA copy number, haplogroups, and their clinical implications. The hypervariable (HV) control regions (
In AML, most mtDNA sequence variants were single nucleotide substitutions, but there were no significant differences compared to those in controls. The number of mtMSI patterns increased in AML. The mean mtDNA copy number of AML patients increased approximately 9-fold compared to that of controls (
AML cells disclosed more heterogeneous patterns with the mtMSI markers and had increased mtDNA copy numbers. These findings implicate mitochondrial genome instability in primary AML cells. Therefore, mtDNA haplogroup D4 might be associated with AML risk among Koreans.
Keywords AML, Mitochondrial genome, Instability, Haplogroup, Outcome
Blood Res 2018; 53(3): 240-249
Published online September 28, 2018 https://doi.org/10.5045/br.2018.53.3.240
Copyright © The Korean Society of Hematology.
Hye Ran Kim1,#, Min-Gu Kang2,#, Young Eun Lee3,4, Bo Ram Na3,4, Min Seo Noh3,4, Seung Hyun Yang3,4, Jong-Hee Shin3, and Myun-Geun Shin3,4,5*
1College of Korean Medicine, Dongshin University, Naju, Korea.
2Department of Laboratory Medicine, Gwangyang Sarang General Hospital, Gwangyang, Korea.
3Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, Hwasun, Korea.
4Brain Korea 21 Plus Project, Chonnam National University Medical School, Gwangju, Korea.
5Environmental Health Center for Childhood Leukemia and Cancer, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, Hwasun, Korea.
Correspondence to:Correspondence to Myun-Geun Shin, M.D., Ph.D. Department of Laboratory Medicine, Chonnam National University Medical School, Chonnam National University Hwasun Hospital, 322 Seoyang-ro, Hwasun-eup, Hwasun-gun, Jeonnam 58128, Korea. mgshin@chonnam.ac.kr
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Mitochondrial DNA (mtDNA) mutations may regulate the progression and chemosensitivity of leukemia. Few studies regarding mitochondrial aberrations and haplogroups in acute myeloid leukemia (AML) and their clinical impacts have been reported. Therefore, we focused on the mtDNA length heteroplasmies minisatellite instability (MSI), copy number alterations, and distribution of mitochondrial haplogroups in Korean patients with AML.
This study investigated 74 adult patients with AML and 70 controls to evaluate mtDNA sequence alterations, MSI, mtDNA copy number, haplogroups, and their clinical implications. The hypervariable (HV) control regions (
In AML, most mtDNA sequence variants were single nucleotide substitutions, but there were no significant differences compared to those in controls. The number of mtMSI patterns increased in AML. The mean mtDNA copy number of AML patients increased approximately 9-fold compared to that of controls (
AML cells disclosed more heterogeneous patterns with the mtMSI markers and had increased mtDNA copy numbers. These findings implicate mitochondrial genome instability in primary AML cells. Therefore, mtDNA haplogroup D4 might be associated with AML risk among Koreans.
Keywords: AML, Mitochondrial genome, Instability, Haplogroup, Outcome
Representative sequencing chromatograms revealing mtDNA mutations in
Gene scan analysis of poly C-stretch region at nucleotide position (np) 303–315, 16184–16193, and 514–515(CA)5 repeats.
Abbreviations: bp, base pair;
Abbreviations: FAB, French-American-British; N, number; WBC, white blood cells..
a)Newly appeared patterns in AML patients involved in this study compared to normal controls of the previous study [6]..
Abbreviations: CI, confidence interval; EFS, event-free survival; OS, overall survival..
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Representative sequencing chromatograms revealing mtDNA mutations in
Gene scan analysis of poly C-stretch region at nucleotide position (np) 303–315, 16184–16193, and 514–515(CA)5 repeats.