title: Mitochondrial DNA aberrations of bone marrow cells from patients with aplastic anemia.
abstract: This study was undertaken primarily to test the hypothesis that mitochondrial DNA (mtDNA) mutations may be associated with aplastic anemia. Complete mtDNA nucleotide sequence was analyzed in nine and eight bone marrow specimens from Korean patients with aplastic anemia and healthy individuals, respectively. We found a large number of polymorphisms as well as apparent new mutations in both patients and controls throughout the entire mtDNA genome; 12 mutations harbored amino acid changes in patients and none of the mutations in controls produced amino acid changes. There were heteroplasmic mutations and more nonsynonymous mtDNA changes observed in patients, so the mean number of mtDNA aberrations of bone marrow cells showed statistically significant difference overall between patients (mean=25.6) and controls (mean=12.8) (p=0.019). Our data may support an association of mtDNA aberrations with aplastic anemia.
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Medical School, Chonnam National University Hwasun Hospital, Hwasun, Korea.
authors.forename: Hye-Ran
authors.initials: HR
authors.lastname: Kim
authors.forename: Myung-Geun
authors.initials: MG
authors.lastname: Shin
authors.forename: Mi-Ji
authors.initials: MJ
authors.lastname: Kim
authors.forename: Hyeoung-Joon
authors.initials: HJ
authors.lastname: Kim
authors.forename: Jong-Hee
authors.initials: JH
authors.lastname: Shin
authors.forename: Soon-Pal
authors.initials: SP
authors.lastname: Suh
authors.forename: Dong-Wook
authors.initials: DW
authors.lastname: Ryang
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D000741:Anemia, Aplastic / Q000235:genetics* / Q000503:physiopathology; D001854:Bone Marrow Cells; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000737:chemistry*; D003627:Data Interpretation, Statistical; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial