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Prepublished online as a Blood First Edition Paper on November 21, 2002; DOI 10.1182/blood-2002-06-1825.
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Blood, 15 April 2003, Vol. 101, No. 8, pp. 3118-3125
NEOPLASIA
Mitochondrial DNA mutations in patients with myelodysplastic
syndromes
Myung Geun Shin,
Sachiko Kajigaya,
Barbara C. Levin, and
Neal S. Young
From the Hematology Branch, National Heart, Lung, and
Blood Institute, National Institutes of Health, Bethesda, MD;
Biotechnology Division, Chemical Science and Technology Laboratory,
National Institutes of Standards and Technology, Gaithersburg, MD.
We undertook to systematically analyze the entire 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 polymorphisms.
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 I 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 microsatellites
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.
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