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Accumulation of homoplasmic mtDNA point mutations in erythroblasts isolated from the bone marrow of patients with refractory anemia with ring sideroblasts (RARS)
Babusiaková E, Vyoral D, Neuwirtová R, Sisková M, Zeman J, Kmoch S.
Jazyk angličtina Země Nizozemsko
Grantová podpora
NR8065
MZ0
CEP - Centrální evidence projektů
- MeSH
- lidé středního věku MeSH
- lidé MeSH
- mitochondriální DNA MeSH
- mutace MeSH
- refrakterní anemie MeSH
- senioři MeSH
- sideroblastická anemie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
It was hypothesised that mitochondrial iron overload in patients with refractory anemia with ring sideroblasts (RARS) results from mitochondrial DNA (mtDNA) mutations. To analyse the mtDNA sequence of iron storing mitochondria sensitively, we developed new protocols for selective erythroblasts isolation, mtDNA PCR amplification and sequencing. Using this approach, we found in each of the three RARS patients examined a unique spectrum of homoplasmic mtDNA point mutations affecting several mtDNA genes. Prediction analyses suggest that identified mutations do not result in major perturbations of mitochondrial functions and are tolerated. We discuss a mechanism explaining how the mutations identified may contribute to RARS pathogenesis.
Department of Internal Medicine General Faculty Hospital Prague Czech Republic
Department of Paediatrics General Faculty Hospital Prague Czech Republic
Institute of Haematology and Blood Transfusion Prague Czech Republic
Citace poskytuje Crossref.org
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- $a It was hypothesised that mitochondrial iron overload in patients with refractory anemia with ring sideroblasts (RARS) results from mitochondrial DNA (mtDNA) mutations. To analyse the mtDNA sequence of iron storing mitochondria sensitively, we developed new protocols for selective erythroblasts isolation, mtDNA PCR amplification and sequencing. Using this approach, we found in each of the three RARS patients examined a unique spectrum of homoplasmic mtDNA point mutations affecting several mtDNA genes. Prediction analyses suggest that identified mutations do not result in major perturbations of mitochondrial functions and are tolerated. We discuss a mechanism explaining how the mutations identified may contribute to RARS pathogenesis.
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