Department of Biochemistry and Pharmacogenomics, Faculty of Pharmacy, Medical University of Warsaw, Banacha 1B, 02-097 Warsaw, Poland.
Centre for Preclinical Research, Medical University of Warsaw, Banacha 1B, 02-097 Warsaw, Poland.
Int J Mol Sci. 2022 Feb 28;23(5):2720. doi: 10.3390/ijms23052720.
Uterine fibroids (UFs) are monoclonal, benign tumors that contain abnormal smooth muscle cells and the accumulation of extracellular matrix (ECM). Although benign, UFs are a major source of gynecologic and reproductive dysfunction, ranging from menorrhagia and pelvic pain to infertility, recurrent miscarriage, and preterm labor. Many risk factors are involved in the pathogenesis of UFs via genetic and epigenetic mechanisms. The latter involving DNA methylation and demethylation reactions provide specific DNA methylation patterns that regulate gene expression. Active DNA demethylation reactions mediated by ten-eleven translocation proteins (TETs) and elevated levels of 5-hydroxymethylcytosine have been suggested to be involved in UF formation. This review paper summarizes the main findings regarding the function of TET enzymes and their activity dysregulation that may trigger the development of UFs. Understanding the role that epigenetics plays in the pathogenesis of UFs may possibly lead to a new type of pharmacological fertility-sparing treatment method.
子宫肌瘤(UFs)是一种单克隆良性肿瘤,包含异常的平滑肌细胞和细胞外基质(ECM)的积累。尽管是良性的,但 UFs 是妇科和生殖功能障碍的主要来源,从月经过多和盆腔疼痛到不孕、反复流产和早产。许多风险因素通过遗传和表观遗传机制参与 UFs 的发病机制。后者涉及 DNA 甲基化和去甲基化反应,提供了调节基因表达的特定 DNA 甲基化模式。据推测,由 ten-eleven translocation 蛋白(TETs)介导的活性 DNA 去甲基化反应和 5-羟甲基胞嘧啶水平的升高与 UF 的形成有关。本文综述了 TET 酶的主要功能发现及其活性失调可能触发 UF 发展。了解表观遗传学在 UF 发病机制中的作用,可能会导致一种新的药理学保留生育力的治疗方法。