Meng Fan-Kai, Huang Li-Fang, Zhou Jian-Feng, Sun Han-Ying
Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2013 Aug;21(4):1088-90. doi: 10.7534/j.issn.1009-2137.2013.04.053.
Myelodysplastic syndromes (MDS) are heterogeneous clonal hematopoietic stem cell disorders with different mechanisms and diverse prognosis. The excess of ring sideroblasts (RS) is an important presentation MDS, but the mechanisms of RS appearance are obscure and the treatment of MDS-RS is intractable. Splicing factors play a very important role in the maturation process of eucaryon mRNA, recent studies indicate that there is a significant causal relationship between splicing factor 3B subunit 1 (SF3B1) mutation and the presence of ring sideroblasts. Lucubrating the downstream molecular of the mutated SF3B1 can facilitate exploring the mechanisms and new therapeutic strategies of MDS-RS.
骨髓增生异常综合征(MDS)是一组异质性的克隆性造血干细胞疾病,其发病机制各异,预后也不尽相同。环形铁粒幼细胞(RS)增多是MDS的一个重要表现,但RS出现的机制尚不清楚,且MDS-RS的治疗也很棘手。剪接因子在真核生物mRNA的成熟过程中起着非常重要的作用,最近的研究表明,剪接因子3B亚基1(SF3B1)突变与环形铁粒幼细胞的存在之间存在显著的因果关系。深入研究突变型SF3B1的下游分子有助于探索MDS-RS的发病机制和新的治疗策略。