Mitochondrial DNA aberrations of bone marrow cells from patients with aplastic anemia.
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.
Kim
Hye-Ran
HR
Department of Laboratory Medicine, Chonnam National University Medical School, Chonnam National University Hwasun Hospital, Hwasun, Korea.
Shin
Myung-Geun
MG
Kim
Mi-Ji
MJ
Kim
Hyeoung-Joon
HJ
Shin
Jong-Hee
JH
Suh
Soon-Pal
SP
Ryang
Dong-Wook
DW
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
D004272:DNA, Mitochondrial