Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Proc Natl Acad Sci U S A. 2013 Jun 25;110(26):10765-70. doi: 10.1073/pnas.1301693110. Epub 2013 Jun 12.
Polycystic kidney disease (PKD), the most common genetic cause of chronic kidney failure, is characterized by the presence of numerous, progressively enlarging fluid-filled cysts in the renal parenchyma. The cysts arise from renal tubules and are lined by abnormally functioning and hyperproliferative epithelial cells. Despite recent progress, no Food and Drug Administration-approved therapy is available to retard cyst growth. MicroRNAs (miRNAs) are short noncoding RNAs that inhibit posttranscriptional gene expression. Dysregulated miRNA expression is observed in PKD, but whether miRNAs are directly involved in kidney cyst formation and growth is not known. Here, we show that miR-17∼92, an oncogenic miRNA cluster, is up-regulated in mouse models of PKD. Kidney-specific transgenic overexpression of miR-17∼92 produces kidney cysts in mice. Conversely, kidney-specific inactivation of miR-17∼92 in a mouse model of PKD retards kidney cyst growth, improves renal function, and prolongs survival. miR-17∼92 may mediate these effects by promoting proliferation and through posttranscriptional repression of PKD genes Pkd1, Pkd2, and hepatocyte nuclear factor-1β. These studies demonstrate a pathogenic role of miRNAs in mouse models of PKD and identify miR-17∼92 as a therapeutic target in PKD. Our results also provide a unique hypothesis for disease progression in PKD involving miRNAs and regulation of PKD gene dosage.
多囊肾病 (PKD) 是慢性肾衰竭最常见的遗传原因,其特征是肾实质中有大量不断增大的充满液体的囊肿。这些囊肿起源于肾小管,由功能异常和过度增殖的上皮细胞组成。尽管最近取得了进展,但仍没有获得美国食品和药物管理局批准的疗法来延缓囊肿生长。microRNAs (miRNAs) 是短的非编码 RNA,可以抑制转录后基因表达。PKD 中观察到 miRNA 表达失调,但 miRNA 是否直接参与肾脏囊肿的形成和生长尚不清楚。在这里,我们发现,致癌 miRNA 簇 miR-17∼92 在 PKD 的小鼠模型中上调。在小鼠中,肾脏特异性过表达 miR-17∼92 会产生肾脏囊肿。相反,在 PKD 的小鼠模型中,肾脏特异性抑制 miR-17∼92 会延缓肾脏囊肿的生长,改善肾功能并延长生存期。miR-17∼92 可能通过促进增殖并通过对 PKD 基因 Pkd1、Pkd2 和肝细胞核因子-1β 的转录后抑制来介导这些效应。这些研究表明 miRNA 在 PKD 的小鼠模型中具有致病性作用,并确定 miR-17∼92 是 PKD 的治疗靶点。我们的研究结果还为 miRNA 参与 PKD 疾病进展并调节 PKD 基因剂量提供了一个独特的假说。