Deregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblasts
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 t...
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| creator | del Rey, Mónica Benito, Rocío Fontanillo, Celia Campos-Laborie, Francisco J Janusz, Kamila Velasco-Hernández, Talía Abáigar, María Hernández, María Cuello, Rebeca Borrego, Daniel Martín-Zanca, Dionisio De Las Rivas, Javier Mills, Ken I Hernández-Rivas, Jesús M |
| description | 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. |
| doi_str_mv | 10.1371/journal.pone.0126555 |
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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.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0126555</identifier><identifier>PMID: 25955609</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Anemia ; Anemia, Refractory - genetics ; Anemia, Sideroblastic - genetics ; Anemia, Sideroblastic - metabolism ; Bioinformatics ; Biosynthesis ; Bone marrow ; Cation Transport Proteins - genetics ; Deregulation ; DNA Mutational Analysis - methods ; Dysplasia ; Gene expression ; Gene Expression Profiling - methods ; Gene Expression Regulation ; Genes ; Genetic aspects ; Genetic Predisposition to Disease ; Hematology ; Humans ; Iron ; Iron - metabolism ; Leukemia ; Metabolism ; Mitochondria ; Mitochondria - genetics ; Mitochondria - metabolism ; Mitochondrial Membrane Transport Proteins - genetics ; Mitochondrial Proteins - genetics ; Mutation ; Myelodysplastic syndrome ; Oligonucleotide Array Sequence Analysis - methods ; Pathogenesis ; Patients ; Phosphoproteins - genetics ; Physiological aspects ; Proteins ; Refractory anemia ; Ribonucleoprotein, U2 Small Nuclear - genetics ; RNA Splicing Factors ; Sideroblasts ; Studies</subject><ispartof>PloS one, 2015-05, Vol.10 (5), p.e0126555-e0126555</ispartof><rights>COPYRIGHT 2015 Public Library of Science</rights><rights>2015 del Rey et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2015 del Rey et al 2015 del Rey et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-13e9de0f1349a40787fd0e5bb4ae645d291c96be5e4fc65be5e6660ba940ad33</citedby><cites>FETCH-LOGICAL-c692t-13e9de0f1349a40787fd0e5bb4ae645d291c96be5e4fc65be5e6660ba940ad33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425562/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425562/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2096,2915,23845,27901,27902,53766,53768,79343,79344</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25955609$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Collins, James F.</contributor><creatorcontrib>del Rey, Mónica</creatorcontrib><creatorcontrib>Benito, Rocío</creatorcontrib><creatorcontrib>Fontanillo, Celia</creatorcontrib><creatorcontrib>Campos-Laborie, Francisco J</creatorcontrib><creatorcontrib>Janusz, Kamila</creatorcontrib><creatorcontrib>Velasco-Hernández, Talía</creatorcontrib><creatorcontrib>Abáigar, María</creatorcontrib><creatorcontrib>Hernández, María</creatorcontrib><creatorcontrib>Cuello, Rebeca</creatorcontrib><creatorcontrib>Borrego, Daniel</creatorcontrib><creatorcontrib>Martín-Zanca, Dionisio</creatorcontrib><creatorcontrib>De Las Rivas, Javier</creatorcontrib><creatorcontrib>Mills, Ken I</creatorcontrib><creatorcontrib>Hernández-Rivas, Jesús M</creatorcontrib><title>Deregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblasts</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>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.</description><subject>Anemia</subject><subject>Anemia, Refractory - genetics</subject><subject>Anemia, Sideroblastic - genetics</subject><subject>Anemia, Sideroblastic - metabolism</subject><subject>Bioinformatics</subject><subject>Biosynthesis</subject><subject>Bone marrow</subject><subject>Cation Transport Proteins - genetics</subject><subject>Deregulation</subject><subject>DNA Mutational Analysis - methods</subject><subject>Dysplasia</subject><subject>Gene expression</subject><subject>Gene Expression Profiling - methods</subject><subject>Gene Expression Regulation</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic Predisposition to Disease</subject><subject>Hematology</subject><subject>Humans</subject><subject>Iron</subject><subject>Iron - metabolism</subject><subject>Leukemia</subject><subject>Metabolism</subject><subject>Mitochondria</subject><subject>Mitochondria - genetics</subject><subject>Mitochondria - metabolism</subject><subject>Mitochondrial Membrane Transport Proteins - genetics</subject><subject>Mitochondrial Proteins - genetics</subject><subject>Mutation</subject><subject>Myelodysplastic syndrome</subject><subject>Oligonucleotide Array Sequence Analysis - methods</subject><subject>Pathogenesis</subject><subject>Patients</subject><subject>Phosphoproteins - genetics</subject><subject>Physiological aspects</subject><subject>Proteins</subject><subject>Refractory anemia</subject><subject>Ribonucleoprotein, U2 Small Nuclear - genetics</subject><subject>RNA Splicing Factors</subject><subject>Sideroblasts</subject><subject>Studies</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><sourceid>DOA</sourceid><recordid>eNqNk12L1DAUhoso7rr6D0QLgujFjGmapM2NsKxfAwsLungb0uS0kyFNxiRV99-bcbrLjOyF9KLh5DlvkvecUxTPK7Ss6qZ6t_FTcNIut97BElWYUUofFKcVr_GCYVQ_PFifFE9i3CBE65axx8UJppxShvhp4T5AgGGyMhnvSt-XAziIZYAcAV0mX5qQN6TT5WiSV2vvdDDSliMk2Xlr4lgal_k-SJV8uMkojEaWv0xal8G4oYxGQ_CdlTHFp8WjXtoIz-b_WXH96eP1xZfF5dXn1cX55UIxjtOiqoFrQH1VEy4Jatqm1who1xEJjFCNeaU464AC6RWjuwVjDHWSEyR1XZ8VL_eyW-ujmJ2KouItpi3BiGditSe0lxuxDWaU4UZ4acTfgA-DkCEZZUHkG_Qtkq1qECHQNpLjPjtJdK0QkK7LWu_n06ZuBK3ApSDtkejxjjNrMfifghCcy4CzwJtZIPgfE8QkRhMVWJu99FO-N2sRRk2uZkZf_YPe_7qZGmR-gHG9z-eqnag4J3XFOca0ydTyHip_OldQ5bbqTY4fJbw9SshMgt9pkFOMYvXt6_-zV9-P2dcH7BqkTevo7bTryXgMkj2ogo8xN92dyRUSu6m4dUPspkLMU5HTXhwW6C7pdgzqP9clCTs</recordid><startdate>20150508</startdate><enddate>20150508</enddate><creator>del Rey, Mónica</creator><creator>Benito, Rocío</creator><creator>Fontanillo, Celia</creator><creator>Campos-Laborie, Francisco J</creator><creator>Janusz, Kamila</creator><creator>Velasco-Hernández, Talía</creator><creator>Abáigar, María</creator><creator>Hernández, María</creator><creator>Cuello, Rebeca</creator><creator>Borrego, Daniel</creator><creator>Martín-Zanca, Dionisio</creator><creator>De Las Rivas, Javier</creator><creator>Mills, Ken I</creator><creator>Hernández-Rivas, Jesús M</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20150508</creationdate><title>Deregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblasts</title><author>del Rey, Mónica ; Benito, Rocío ; Fontanillo, Celia ; Campos-Laborie, Francisco J ; Janusz, Kamila ; Velasco-Hernández, Talía ; Abáigar, María ; Hernández, María ; Cuello, Rebeca ; Borrego, Daniel ; Martín-Zanca, Dionisio ; De Las Rivas, Javier ; Mills, Ken I ; Hernández-Rivas, Jesús M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c692t-13e9de0f1349a40787fd0e5bb4ae645d291c96be5e4fc65be5e6660ba940ad33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Anemia</topic><topic>Anemia, Refractory - genetics</topic><topic>Anemia, Sideroblastic - genetics</topic><topic>Anemia, Sideroblastic - metabolism</topic><topic>Bioinformatics</topic><topic>Biosynthesis</topic><topic>Bone marrow</topic><topic>Cation Transport Proteins - genetics</topic><topic>Deregulation</topic><topic>DNA Mutational Analysis - methods</topic><topic>Dysplasia</topic><topic>Gene expression</topic><topic>Gene Expression Profiling - methods</topic><topic>Gene Expression Regulation</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic Predisposition to Disease</topic><topic>Hematology</topic><topic>Humans</topic><topic>Iron</topic><topic>Iron - metabolism</topic><topic>Leukemia</topic><topic>Metabolism</topic><topic>Mitochondria</topic><topic>Mitochondria - genetics</topic><topic>Mitochondria - metabolism</topic><topic>Mitochondrial Membrane Transport Proteins - genetics</topic><topic>Mitochondrial Proteins - genetics</topic><topic>Mutation</topic><topic>Myelodysplastic syndrome</topic><topic>Oligonucleotide Array Sequence Analysis - methods</topic><topic>Pathogenesis</topic><topic>Patients</topic><topic>Phosphoproteins - genetics</topic><topic>Physiological aspects</topic><topic>Proteins</topic><topic>Refractory anemia</topic><topic>Ribonucleoprotein, U2 Small Nuclear - genetics</topic><topic>RNA Splicing Factors</topic><topic>Sideroblasts</topic><topic>Studies</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>del Rey, Mónica</creatorcontrib><creatorcontrib>Benito, Rocío</creatorcontrib><creatorcontrib>Fontanillo, Celia</creatorcontrib><creatorcontrib>Campos-Laborie, Francisco J</creatorcontrib><creatorcontrib>Janusz, Kamila</creatorcontrib><creatorcontrib>Velasco-Hernández, Talía</creatorcontrib><creatorcontrib>Abáigar, María</creatorcontrib><creatorcontrib>Hernández, María</creatorcontrib><creatorcontrib>Cuello, Rebeca</creatorcontrib><creatorcontrib>Borrego, Daniel</creatorcontrib><creatorcontrib>Martín-Zanca, Dionisio</creatorcontrib><creatorcontrib>De Las Rivas, Javier</creatorcontrib><creatorcontrib>Mills, Ken I</creatorcontrib><creatorcontrib>Hernández-Rivas, Jesús M</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Opposing Viewpoints</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Animal Behavior Abstracts</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Biotechnology Research Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Ecology Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Immunology Abstracts</collection><collection>Meteorological & Geoastrophysical Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Agricultural Science Collection</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Materials Science & Engineering Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>Advanced Technologies & Aerospace Collection</collection><collection>Agricultural & Environmental Science Collection</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Technology Collection</collection><collection>Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Materials Science Collection</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Materials Science Database</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Meteorological & Geoastrophysical Abstracts - 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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.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>25955609</pmid><doi>10.1371/journal.pone.0126555</doi><tpages>e0126555</tpages><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 1932-6203 |
| ispartof | PloS one, 2015-05, Vol.10 (5), p.e0126555-e0126555 |
| issn | 1932-6203 1932-6203 |
| language | eng |
| recordid | cdi_plos_journals_1982584209 |
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| subjects | Anemia Anemia, Refractory - genetics Anemia, Sideroblastic - genetics Anemia, Sideroblastic - metabolism Bioinformatics Biosynthesis Bone marrow Cation Transport Proteins - genetics Deregulation DNA Mutational Analysis - methods Dysplasia Gene expression Gene Expression Profiling - methods Gene Expression Regulation Genes Genetic aspects Genetic Predisposition to Disease Hematology Humans Iron Iron - metabolism Leukemia Metabolism Mitochondria Mitochondria - genetics Mitochondria - metabolism Mitochondrial Membrane Transport Proteins - genetics Mitochondrial Proteins - genetics Mutation Myelodysplastic syndrome Oligonucleotide Array Sequence Analysis - methods Pathogenesis Patients Phosphoproteins - genetics Physiological aspects Proteins Refractory anemia Ribonucleoprotein, U2 Small Nuclear - genetics RNA Splicing Factors Sideroblasts Studies |
| title | Deregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblasts |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-30T19%3A57%3A15IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Deregulation%20of%20genes%20related%20to%20iron%20and%20mitochondrial%20metabolism%20in%20refractory%20anemia%20with%20ring%20sideroblasts&rft.jtitle=PloS%20one&rft.au=del%20Rey,%20M%C3%B3nica&rft.date=2015-05-08&rft.volume=10&rft.issue=5&rft.spage=e0126555&rft.epage=e0126555&rft.pages=e0126555-e0126555&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0126555&rft_dat=%3Cgale_plos_%3EA431992257%3C/gale_plos_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1982584209&rft_id=info:pmid/25955609&rft_galeid=A431992257&rft_doaj_id=oai_doaj_org_article_9a4f80a8c7044e87a92f0534d3c0e4bb&rfr_iscdi=true |