title: Complete sequence analysis of mitochondrial DNA and telomere length in aplastic anemia.
abstract: The present study was primarily undertaken to examine the hypothesis that mitochondrial DNA (mtDNA) mutations and telomere length may be associated with aplastic anemia (AA). Our study included a single institution analysis of 40 patients presenting with AA first diagnosed at the Affiliated Hospital of Shandong, University of Traditional Chinese Medicine between 2010 and 2013. Bone marrow and oral epithelial samples were collected from patients with AA (n=40) for mtDNA mutation and telomere length determinations. Bone marrow specimens were collected from 40 healthy volunteers as controls for the examination of telomere length. The mitochondrial genome was amplified by polymerase chain reaction (PCR), and the products were used for sequencing and analysis. We detected 146 heteroplasmic mutations in 18 genes from 40 patients with AA, including 39 silent mutations and 28 frameshift mutations. We used the gamma globin gene (HBG) as the control gene in real-time PCR to survey the relative telomere length measurements of the patients with AA and the healthy volunteers. Telomere length was expressed as the relative T/S value. We observed a negative correlation between the mtDNA non-silent mutation and the white blood cell (WBC) count, hemoglobin and platelet count. Of note, there was a positive correlation between the relative T/S value and WBC count, hemoglobin and platelet count, and a negative correlation between the non-silent mutation and the relative T/S value. We conclude that the functional impairment of the mitochondrial respiratory chain induced by mutation and telomere length shortening may play an important role in the process of hematopoietic failure in patients with AA. Additionally, mtDNA mutations and telomere length shortening influenced each other.
authors.affiliation: Post-doctoral Research Station, Shandong University, Jinan, P.R. China.
authors.forename: Xing
authors.initials: X
authors.lastname: Cui
authors.affiliation: Department of Health Care, The Second Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, P.R. China.
authors.forename: Junqiang
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Medicine, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, P.R. China.
authors.forename: Zhiguo
authors.initials: Z
authors.lastname: Cai
authors.affiliation: Department of Hematology, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, P.R. China.
authors.forename: Jingyi
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Hematology, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, P.R. China.
authors.forename: Kui
authors.initials: K
authors.lastname: Liu
authors.affiliation: Department of Hematology, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, P.R. China.
authors.forename: Siyuan
authors.initials: S
authors.lastname: Cui
authors.affiliation: Department of Hematology, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, P.R. China.
authors.forename: Jie
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department of Hematology, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, P.R. China.
authors.forename: Yaqin
authors.initials: Y
authors.lastname: Luo
authors.affiliation: Department of Hematology, Shandong Province Hospital of Shandong University, Jinan, P.R. China.
authors.forename: Xin
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Traditional Chinese Medicine, Linyi People's Hospital, Linyi, P.R. China.
authors.forename: Weiwei
authors.initials: W
authors.lastname: Li
authors.affiliation: Department of Chinese Integrative Medicine, Qingdao Cancer Hospital, Qingdao, Shandong, P.R. China.
authors.forename: Jingyan
authors.initials: J
authors.lastname: Jing
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000741:Anemia, Aplastic / Q000175:diagnosis / Q000235:genetics*; D001853:Bone Marrow / Q000378:metabolism; D016022:Case-Control Studies; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006454:Hemoglobins / Q000378:metabolism; D006801:Humans; D007958:Leukocyte Count; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011110:Polymorphism, Genetic; D060888:Real-Time Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013048:Specimen Handling; D016615:Telomere / Q000737:chemistry / Q000235:genetics*; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial; D006454:Hemoglobins