Kopparapu Pradeep Kumar, Bhoi Sujata, Mansouri Larry, Arabanian Laleh S, Plevova Karla, Pospisilova Sarka, Wasik Agata M, Croci Giorgio Alberto, Sander Birgitta, Paulli Marco, Rosenquist Richard, Kanduri Meena
a Department of Clinical Chemistry and Transfusion Medicine , Institute of Biomedicine, Sahlgrenska Academy, Gothenburg University , Sweden.
b Department of Immunology , Genetics and Pathology, Science for Life Laboratory, Uppsala University , Uppsala , Sweden.
Epigenetics. 2016 May 3;11(5):335-43. doi: 10.1080/15592294.2016.1164375. Epub 2016 Apr 6.
Downregulation of miR26A1 has been reported in various B-cell malignancies; however, the mechanism behind its deregulation remains largely unknown. We investigated miR26A1 methylation and expression levels in a well-characterized series of chronic lymphocytic leukemia (CLL) and mantle cell lymphoma (MCL). From 450K methylation arrays, we first observed miR26A1 (cg26054057) as uniformly hypermethylated in MCL (n = 24) (all >75%), while CLL (n = 18) showed differential methylation between prognostic subgroups. Extended analysis using pyrosequencing confirmed our findings and real-time quantitative PCR verified low miR26A1 expression in both CLL (n = 70) and MCL (n = 38) compared to normal B-cells. Notably, the level of miR26A1 methylation predicted outcome in CLL, with higher levels seen in poor-prognostic, IGHV-unmutated CLL. Since EZH2 was recently reported as a target for miR26A1, we analyzed the expression levels of both miR26A1 and EZH2 in primary CLL samples and observed an inverse correlation. By overexpression of miR26A1 in CLL and MCL cell lines, reduced EZH2 protein levels were observed using both Western blot and flow cytometry. In contrast, methyl-inhibitor treatment led to upregulated miR26A1 expression with a parallel decrease of EZH2 expression. Finally, increased levels of apoptosis were observed in miR26A1-overexpressing cell lines, further underscoring the functional relevance of miR26A1. In summary, we propose that epigenetic silencing of miR26A1 is required for the maintenance of increased levels of EZH2, which in turn translate into a worse outcome, as shown in CLL, highlighting miR26A1 as a tumor suppressor miRNA.
已有报道称,miR26A1在多种B细胞恶性肿瘤中表达下调;然而,其失调背后的机制在很大程度上仍不清楚。我们研究了一系列特征明确的慢性淋巴细胞白血病(CLL)和套细胞淋巴瘤(MCL)中miR26A1的甲基化和表达水平。从450K甲基化阵列中,我们首先观察到miR26A1(cg26054057)在MCL(n = 24)中均呈高度甲基化(均>75%),而CLL(n = 18)在预后亚组之间表现出差异甲基化。使用焦磷酸测序进行的扩展分析证实了我们的发现,实时定量PCR验证了与正常B细胞相比,CLL(n = 70)和MCL(n = 38)中miR26A1表达均较低。值得注意的是,miR26A1甲基化水平可预测CLL的预后,在预后不良、IGHV未突变的CLL中水平更高。由于最近报道EZH2是miR26A1的靶点,我们分析了原发性CLL样本中miR26A1和EZH2的表达水平,并观察到两者呈负相关。通过在CLL和MCL细胞系中过表达miR26A1,使用蛋白质免疫印迹法和流式细胞术均观察到EZH2蛋白水平降低。相反,甲基化抑制剂处理导致miR26A1表达上调,同时EZH2表达平行下降。最后,在过表达miR26A1的细胞系中观察到凋亡水平增加,进一步强调了miR26A1的功能相关性。总之,我们提出,miR26A1的表观遗传沉默是维持EZH2水平升高所必需的,而EZH2水平升高反过来又导致更差的预后,如在CLL中所示,这突出了miR26A1作为一种肿瘤抑制性微小RNA的作用。