Deregulation of Genes Related to Iron and Mitochondrial Metabolism in Refractory Anemia with Ring Sideroblasts

被引：20

作者：

del Rey, Monica ^{[1
,2
]}

Benito, Rocio ^{[1
,2
]}

Fontanillo, Celia ^{[1
,2
]}

Campos-Laborie, Francisco J. ^{[1
,2
]}

Janusz, Kamila ^{[1
,2
]}

Velasco-Hernandez, Talia ^{[3
]}

Abaigar, Maria ^{[1
,2
]}

Hernandez, Maria ^{[1
,2
]}

Cuello, Rebeca ^{[4
]}

Borrego, Daniel ^{[4
]}

Martin-Zanca, Dionisio ^{[3
]}

Rivas, Javier De Las ^{[1
,2
]}

Mills, Ken I. ^{[5
]}

Hernandez-Rivas, Jesus M. ^{[1
,2
,6
]}

机构：

[1] Univ Salamanca, CSIC, CIC, IBMCC, E-37008 Salamanca, Spain

[2] Inst Invest Biomed Salamanca, IBSAL, Salamanca, Spain

[3] Univ Salamanca, CSIC, Inst Biol Func & Genom, E-37008 Salamanca, Spain

[4] Hosp Clin Valladolid, Serv Hematol, Valladolid, Spain

[5] Queens Univ Belfast, Ctr Canc Res & Cell Biol, Belfast, Antrim, North Ireland

[6] Hosp Univ Salamanca, Serv Hematol, Salamanca, Spain

来源：

PLOS ONE | 2015年 / 10卷 / 05期

关键词：

WORLD-HEALTH-ORGANIZATION; MYELODYSPLASTIC SYNDROMES; SF3B1; MUTATIONS; EXPRESSION; TRANSPORTER; ATAXIA; ABCB7; CLASSIFICATION; IDENTIFICATION; MITOFERRIN;

D O I：

10.1371/journal.pone.0126555

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页数：16

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