Chatzidavid Sevastianos, Kontandreopoulou Christina-Nefeli, Giannakopoulou Nefeli, Diamantopoulos Panagiotis T, Stafylidis Christos, Kyrtsonis Marie-Christine, Dimou Maria, Panayiotidis Panayiotis, Viniou Nora-Athina
Hematology Unit, First Department of Internal Medicine, Laikon General Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Thalassemia and Sickle Cell Disease Center, Laikon General Hospital, Athens, Greece.
Adv Hematol. 2024 Feb 23;2024:1370364. doi: 10.1155/2024/1370364. eCollection 2024.
Epigenetic regulation has been thoroughly investigated in recent years and has emerged as an important aspect of chronic lymphocytic leukemia (CLL) biology. Characteristic aberrant features such as methylation patterns and global DNA hypomethylation were the early findings of the research during the last decades. The investigation in this field led to the identification of a large number of genes where methylation features correlated with important clinical and laboratory parameters. Gene-specific analyses investigated methylation in the gene body enhancer regions as well as promoter regions. The findings included genes and proteins involved in key pathways that play central roles in the pathophysiology of the disease. Τhe application of these findings beyond the theoretical understanding can not only lead to the creation of prognostic and predictive models and scores but also to the design of novel therapeutic agents. The following is a review focusing on the present knowledge about single gene/gene promoter methylation or mRNA expression in CLL cases as well as records of older data that have been published in past papers.
近年来,表观遗传调控已得到深入研究,并已成为慢性淋巴细胞白血病(CLL)生物学的一个重要方面。诸如甲基化模式和全基因组DNA低甲基化等特征性异常是过去几十年该研究的早期发现。该领域的研究导致鉴定出大量基因,其甲基化特征与重要的临床和实验室参数相关。基因特异性分析研究了基因体增强子区域以及启动子区域的甲基化情况。研究结果包括参与关键通路的基因和蛋白质,这些通路在该疾病的病理生理学中起核心作用。将这些发现应用于理论理解之外,不仅可以创建预后和预测模型及评分,还可以设计新型治疗药物。以下是一篇综述,重点关注目前关于CLL病例中单基因/基因启动子甲基化或mRNA表达的知识,以及过去发表的论文中记录的旧数据。