[Epigenetic dysregulation and emerging treatment strategies in myelodysplastic syndromes].

Hiroyoshi Kunimoto
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Abstract

The epigenome regulates transcription of target genes through DNA methylation- or histone methylation/acetylation/phosphorylation/ubiquitination-mediated alteration of genomic function or chromatin conformation. Recent genomic studies have shown that multiple genes encoding epigenetic regulators are frequently and recurrently mutated in MDS, suggesting that epigenetic dysregulation is significantly associated with the molecular pathogenesis and clinical features of MDS. In this review, we will present our recent findings together with others, focusing on physiological molecular functions of epigenetic regulators recurrently mutated in MDS and on functional correlation between dysregulated epigenomic regulators and molecular pathogenesis/clinical features of MDS.

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[骨髓增生异常综合征中的表观遗传失调和新兴治疗策略]。
表观基因组通过 DNA 甲基化或组蛋白甲基化/乙酰化/磷酸化/泛素化介导的基因组功能或染色质构象的改变来调控靶基因的转录。最近的基因组研究表明,编码表观遗传调控因子的多个基因在 MDS 中频繁发生突变,表明表观遗传失调与 MDS 的分子发病机制和临床特征密切相关。在这篇综述中,我们将介绍我们和其他研究人员的最新发现,重点关注在MDS中反复突变的表观遗传调节因子的生理分子功能,以及表观遗传调节因子失调与MDS的分子发病机制/临床特征之间的功能相关性。
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