Deregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblasts

Monica del Rey, Rocío Benito, Celia Fontanillo, Francisco J Campos-Laborie, Kamila Janusz, Talía Velasco-Hernández, María Abáigar, María Hernández, Rebeca Cuello, Daniel Borrego, Dionisio Martín-Zanca, Javier de las Rivas, Ken I Mills, Jesus M. Hernández-Rivas

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The presence of SF3B1 gene mutations is a hallmark of refractory anemia with ring sideroblasts (RARS). However, the mechanisms responsible for iron accumulation that characterize the Myelodysplastic Syndrome with ring sideroblasts (MDS-RS) are not completely understood. In order to gain insight in the molecular basis of MDS-RS, an integrative study of the expression and mutational status of genes related to iron and mitochondrial metabolism was carried out. A total of 231 low-risk MDS patients and 81 controls were studied. Gene expression analysis revealed that iron metabolism and mitochondrial function had the highest number of genes deregulated in RARS patients compared to controls and the refractory cytopenias with unilineage dysplasia (RCUD). Thus mitochondrial transporters SLC25 (SLC25A37 and SLC25A38) and ALAD genes were over-expressed in RARS. Moreover, significant differences were observed between patients with SF3B1 mutations and patients without the mutations. The deregulation of genes involved in iron and mitochondrial metabolism provides new insights in our knowledge of MDS-RS. New variants that could be involved in the pathogenesis of these diseases have been identified.

Original languageEnglish
Article number0126555
Number of pages16
JournalPloS one
Issue number5
Publication statusPublished - 08 May 2015


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