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Mitochondrial DNA Mutations in Patients With Myelodysplastic Syndromes



M G. Shin, S Kajigaya, Barbara C. Levin, N S. Young


We undertook to systematically analyze the mitochondrial genome by gene amplification and direct sequencing in 10 patients with myelodysplasia: results were compared with concomitantly studied 8 healthy volunteers as well as mtDNA sequences in a standard database. Nucleotide changes that were present in our healthy controls as well as those in published databases were counted as poly-morphisms. Overall, there was no increase in the number of mtDNA genes harboring polymorphisms or new mutations between our patients and healthy controls, although there were a few more mtDNA changes resulting in amino acid changes in myelodysplasia (9 in 8 controls versus 16 in 10 patients). Thirty new mutations, all nucleotide substitutions, were found among the 10 patients, distributed throughout the mitochondrial genome; 5 mutations resulted in amino acid changes. None of the mutations in controls produced amino acid changes. We were not able to confirm previously described mutations in sideroblastic anemia or hot spots in the cytochrome c oxidase 1 and II genes. Our data do not support a major role for mitochondrial genomic instability in myelodysplasia, and they fail to reproduce previous reports of significant or widespread mitochondrial mutations in this disease. Modest changes in mutation numbers and mitochondrial microsatelites may be evidence of increased mutagenesis in mtDNA, or, more likely, a reflection of limited clonality among hematopoietic stem cells in this bone marrow failure syndrome.
No. 8


genomic instability, MDS, mitochondrial DNA, mutations, sideroblastic anemia


Shin, M. , Kajigaya, S. , Levin, B. and Young, N. (2003), Mitochondrial DNA Mutations in Patients With Myelodysplastic Syndromes, Blood (Accessed June 21, 2024)


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Created March 31, 2003, Updated October 12, 2021