Yano Naohiro, Fedulov Alexey V
Department of Surgery, Rhode Island Hospital, Alpert Medical School of Brown University, 593 Eddy Street, Providence, RI 02903, USA.
Biomedicines. 2023 Apr 30;11(5):1334. doi: 10.3390/biomedicines11051334.
Aberrant DNA hypermethylation at regulatory cis-elements of particular genes is seen in a plethora of pathological conditions including cardiovascular, neurological, immunological, gastrointestinal and renal diseases, as well as in cancer, diabetes and others. Thus, approaches for experimental and therapeutic DNA demethylation have a great potential to demonstrate mechanistic importance, and even causality of epigenetic alterations, and may open novel avenues to epigenetic cures. However, existing methods based on DNA methyltransferase inhibitors that elicit genome-wide demethylation are not suitable for treatment of diseases with specific epimutations and provide a limited experimental value. Therefore, gene-specific epigenetic editing is a critical approach for epigenetic re-activation of silenced genes. Site-specific demethylation can be achieved by utilizing sequence-dependent DNA-binding molecules such as zinc finger protein array (ZFA), transcription activator-like effector (TALE) and clustered regularly interspaced short palindromic repeat-associated dead Cas9 (CRISPR/dCas9). Synthetic proteins, where these DNA-binding domains are fused with the DNA demethylases such as ten-eleven translocation (Tet) and thymine DNA glycosylase (TDG) enzymes, successfully induced or enhanced transcriptional responsiveness at targeted loci. However, a number of challenges, including the dependence on transgenesis for delivery of the fusion constructs, remain issues to be solved. In this review, we detail current and potential approaches to gene-specific DNA demethylation as a novel epigenetic editing-based therapeutic strategy.
在包括心血管疾病、神经疾病、免疫疾病、胃肠道疾病和肾脏疾病在内的众多病理状况中,以及在癌症、糖尿病和其他疾病中,都可见特定基因调控顺式元件处的异常DNA高甲基化。因此,实验性和治疗性DNA去甲基化方法极有可能揭示表观遗传改变的机制重要性,甚至因果关系,并可能为表观遗传治疗开辟新途径。然而,基于引发全基因组去甲基化的DNA甲基转移酶抑制剂的现有方法并不适用于治疗具有特定表观突变的疾病,且实验价值有限。因此,基因特异性表观遗传编辑是使沉默基因表观遗传重新激活的关键方法。通过利用序列依赖性DNA结合分子,如锌指蛋白阵列(ZFA)、转录激活样效应因子(TALE)和成簇规律间隔短回文重复序列相关的无活性Cas9(CRISPR/dCas9),可以实现位点特异性去甲基化。将这些DNA结合结构域与DNA去甲基酶,如十 - 十一易位酶(Tet)和胸腺嘧啶DNA糖基化酶(TDG)融合的合成蛋白,成功诱导或增强了靶向位点的转录反应性。然而,包括依赖转基因来递送融合构建体在内的一些挑战,仍是有待解决的问题。在本综述中,我们详细介绍了作为一种基于新型表观遗传编辑的治疗策略的基因特异性DNA去甲基化的当前和潜在方法。