Mitochondrial DNA Aberrations of Bone Marrow Cells from Patients with Aplastic Anemia.
10.3346/jkms.2008.23.6.1062
- Author:
Hye Ran KIM
1
;
Myung Geun SHIN
;
Mi Ji KIM
;
Hyeoung Joon KIM
;
Jong Hee SHIN
;
Soon Pal SUH
;
Dong Wook RYANG
Author Information
1. Department of Laboratory Medicine, Chonnam National University Medical School, Hwasun, Korea. mgshin@chonnam.ac.kr
- Publication Type:Original Article ; Comparative Study ; Research Support, Non-U.S. Gov't
- Keywords:
Anemia, Aplastic;
DNA, Mitochondrial;
Mutation
- MeSH:
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
- From:Journal of Korean Medical Science
2008;23(6):1062-1067
- CountryRepublic of Korea
- Language:English
-
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.
