Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia.

In conclusion, heterozygous mutations in the known DBA genes RPS19, RPS26 and RPS17 were detected in seven out of nine Korean DBA patients. Among these patients, RPS19 was the most frequently mutated gene. In addition, decreased RPS19 mRNA expression and p53 overexpression were observed in the Korean DBA patients, which supports the hypothesis that haploinsufficiency and p53 hyperactivation represent a central pathway underlying the pathogenesis of DBA.
PMID: 24675553 [PubMed - in process]

Source: exp Mol Med - March 31, 2014 Category: Molecular Biology Authors: Chae H, Park J, Lee S, Kim M, Kim Y, Lee JW, Chung NG, Cho B, Chul Jeong D, Kim J, Kim JR, Park G Tags: Exp Mol Med Source Type: research