diamond blackfan anemia at the crossroad between ribosome biogenesis and heme metabolism钻石blackfan贫血在核糖体生物起源和血红素代谢之间的十字路口.pdfVIP

Hindawi Publishing Corporation Advances in Hematology Volume 2010, Article ID 790632, 8 pages doi:10.1155/2010/790632 Review Article Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism Deborah Chiabrando and Emanuela Tolosano Molecular Biotechnology Center, University of Torino, Via Nizza 52, 10126 Torino, Italy Correspondence should be addressed to Emanuela Tolosano, emanuela.tolosano@unito.it Received 20 November 2009; Revised 22 January 2010; Accepted 16 February 2010 Academic Editor: Jeffery Lynn Miller Copyright © 2010 D. Chiabrando and E. Tolosano. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Diamond-Blackfan anemia (DBA) is a rare, pure red-cell aplasia that presents during infancy. Approximately 40% of cases are associated with other congenital defects, particularly malformations of the upper limb or craniofacial region. Mutations in the gene coding for the ribosomal protein RPS19 have been identified in 25% of patients with DBA, with resulting impairment of 18S rRNA processing and 40S ribosomal subunit formation. Moreover, mutations in other ribosomal protein coding genes account for about 25% of other DBA cases. Recently, the analysis of mice from which the gene coding for the heme exporter Feline Leukemia Virus subgroup C Receptor (FLVCR1) is deleted suggested that this gene may be involved in the pathogenesis of DBA. FLVCR1- null mice show a phenotype resembling that of DBA patients, including erythroid failure and malformations. Interestingly, some DBA patients have disease linkage to chromosome 1q31, where FLVCR1 is mapped. More