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Comparative Study
. 2008 Dec;23(6):1062-7.
doi: 10.3346/jkms.2008.23.6.1062. Epub 2008 Dec 24.

Mitochondrial DNA aberrations of bone marrow cells from patients with aplastic anemia

Hye-Ran Kim  1 , Myung-Geun Shin, Mi-Ji Kim, Hyeoung-Joon Kim, Jong-Hee Shin, Soon-Pal Suh, Dong-Wook Ryang
Affiliations
Comparative Study

Mitochondrial DNA aberrations of bone marrow cells from patients with aplastic anemia

Hye-Ran Kim et al. J Korean Med Sci. 2008 Dec.

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.

Keywords: Anemia, Aplastic; DNA, Mitochondrial; Mutation.

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Figures

Fig. 1
Fig. 1
Sequence chromatogram of PCR-amplified mtDNA ND5 gene from M (A) and BM (B) of patient No. 1 (heteroplasmy) and PCR-amplified mtDNA COII gene from M (C) and BM (D) of patient No. 3. Substitution (T7692C) was found in both M and BM samples (homoplasmy).
See this image and copyright information in PMC

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