骨髓增生异常综合征剪接体突变的研究进展
Research progress on spliceosome mutations in myelodysplastic syndromes
黄林娜 1刘鹏琴1
作者信息
- 1. 南华大学附属郴州第一人民医院检验科 湖南省郴州市423000
- 折叠
摘要
研究发现剪接体突变在骨髓增生异常综合征(myelodysplastic syndrome,MDS)疾病的发生发展中发挥重要作用,其突变基因包括SF3B1、U2AF1(U2AF35)、SRSF2、ZRSR2、PRPF40B、SF1、SF3A1和U2AF2等,突变基因(45%~85%)发生在mRNA剪接过程中的3'剪接位点,主要表现为杂合性错义突变.了解RNA剪接对MDS的靶向治疗及预后具有指导作用.本文就剪接体相关突变基因在MDS中的致病机制、靶向治疗及临床预后等进行综述.
Abstract
Spliceosomal dysfunction plays a major role in pathogenesis of myelodysplastic syndrome (MDS). Splicing factor somatic mutations, including SF3B1, U2AF1 (U2AF35), SRSF2, ZRSR2, PRPF40B, SF1, SF3A1, and U2AF2, comprise a common (45%–85%) class of mutated genes in MDS. These genes exist in a mutually exclusive manner at the 3'splice site of mRNA processing and are predomi-nantly heterozygous and missense. RNA splicing might have therapeutic and prognosis values in MDS. This review mainly describes the pathogenesis of common splicing factor gene mutations in MDS and discusses possible therapeutic implications, clinical analysis, and prognosis.
关键词
骨髓增生异常综合征/剪接体/基因突变/靶向治疗Key words
myelodysplastic syndromes/spliceosome/mutations/targeted therapy引用本文复制引用
出版年
2017
NETL
NSTL
维普
万方数据