J Korean Med Sci.  2008 Dec;23(6):1062-1067. 10.3346/jkms.2008.23.6.1062.

Mitochondrial DNA Aberrations of Bone Marrow Cells from Patients with Aplastic Anemia

• Kim HR
• Shin MG
• Kim MJ
• Kim HJ
• Shin JH
• Suh SP
• Ryang DW

• KMID: 1107534
• DOI: http://doi.org/10.3346/jkms.2008.23.6.1062

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.

Keyword

Anemia, Aplastic; DNA, Mitochondrial; Mutation

MeSH Terms

Adult
Amino Acid Substitution
Anemia, Aplastic/*genetics/physiopathology
*Bone Marrow Cells
DNA Mutational Analysis
DNA, Mitochondrial/*chemistry
Data Interpretation, Statistical
Female
Gene Deletion
Humans
Male
Middle Aged
Point Mutation
Sequence Analysis, DNA

Figure

• 

  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).

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