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SRSF2突变及其在骨髓增生异常综合征中的研究进展

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剪接体蛋白的突变是骨髓增生异常综合征(myelodysplastic syndromes,MDS)中常见的基因突变之一.其中,SRSF2突变通过其位于N末端的RNA识别基序结构域(recognition motif domain,RRM)结合mRNA外显子剪接增强子(exonic splice enhancer,ESE)基序来促进外显子识别,从而导致异常的剪接事件的发生,部分异常剪接事件与MDS的发病机制直接相关,SRSF2突变为MDS的不良预后因素.因此,本文就SRSF2突变及其导致MDS的作用机制、靶向伴有SRSF2突变的MDS患者的治疗、SRSF2突变对MDS预后的影响作一综述,以期探索新的治疗靶标.
SRSF2 mutation and its research progress in myelodysplastic syndromes
Spliceosomal protein mutation is one of the most common genetic mutations in myelodysplastic syndromes(MDS).Among them,the SRSF2 mutation promotes exon recognition through its N-terminal RNA recognition motif domain(RRM)binding to the mRNA exon splicing enhancer(ESE)motif.This results in the occurrence of abnormal splicing events.SRSF2 mutations can lead to abnormal splicing events,some of which are directly related to the pathogenesis of MDS.Current studies have shown that SRSF2mutation is an adverse prognostic factor for MDS.Therefore,this paper reviews SRSF2mutation and its mechanism of MDS,targeted treatment of MDS patients with SRSF2 mutation,and the impact of SRSF2 mutation on the prognosis of MDS,in order to explore new therapeutic targets.

myelodysplastic syndromeSRSF2prognosis

刘仪凡、韩帆、张雪鹏、席亚明

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兰州大学第一临床医学院,兰州 730000

兰州大学第一医院血液科,兰州 730000

骨髓增生异常综合征 SRSF2 预后

兰州市科技计划项目

2020-ZD-76

2023

生命的化学
中国生物化学与分子生物学会

生命的化学

CSTPCD
影响因子:0.404
ISSN:1000-1336
年,卷(期):2023.43(10)
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