标题：Effects of l-leucine in 5q- syndrome and other RPS14-deficient erythroblasts# t7 r, Q" A- ] `" V0 S
作者：B H Yip, A Pellagatti, C Vuppusetty, A Giagounidis, U Germing, A A Lamikanra, D J Roberts, M Fernandez-Mercado, E-J McDonald, S Killick, J S Wainscoat and J Boultwood7 j$ w1 n! e3 a0 u' L w. i
摘要： The 5q- syndrome is the most distinct of all the myelodysplastic syndromes (MDS) with a clear genotype/phenotype relationship. The RPS14 gene, encoding a ribosomal protein and mapping to the commonly deleted region (CDR) of the 5q- syndrome,1 shows haploinsufficiency in the CD34+ cells of patients with this disorder. The genes in the 5q- syndrome CDR were studied by an RNA-mediated interference-based approach and it was shown that haploinsufficiency of RPS14 in normal CD34+ cells resulted in a block in erythroid differentiation with relative preservation of megakaryocyte differentiation, suggesting that RPS14 haploinsufficiency is the probable cause of the erythroid defect in this disorder. Several lines of converging evidence suggest that p53 activation secondary to ribosomal haploinsufficiency is the mechanism that underlies the anemia in the 5q- syndrome.作者: 蔚海橙天 时间: 2012-9-7 19:30
