Renal Division, Department of Medicine, Brigham and Women's Hospital, and Harvard Medical School, Boston, MA 02115, USA.
Hum Mol Genet. 2011 Nov 1;20(21):4143-54. doi: 10.1093/hmg/ddr338. Epub 2011 Aug 5.
Autosomal dominant polycystic kidney disease (ADPKD) is a commonly inherited disorder mostly caused by mutations in PKD1, encoding polycystin-1 (PC1). The disease is characterized by development and growth of epithelium-lined cyst in both kidneys, often leading to renal failure. There is no specific treatment for this disease. Here, we report a sustained activation of the transcription factor signal transducer and activator of transcription 3 (STAT3) in ischemic injured and uninjured Pkd1 knockout polycystic kidneys and in human ADPKD kidneys. Through a chemical library screen, we identified the anti-parasitic compound pyrimethamine as an inhibitor of STAT3 function. Treatment with pyrimethamine decreases cell proliferation in human ADPKD cells and blocks renal cyst formation in an adult and a neonatal PKD mouse model. Moreover, we demonstrated that a specific STAT3 inhibitor, S3I-201, reduces cyst formation and growth in a neonatal PKD mouse model. Our results suggest that PC1 acts as a negative regulator of STAT3 and that blocking STAT3 signaling with pyrimethamine or similar drugs may be an attractive therapy for human ADPKD.
常染色体显性多囊肾病(ADPKD)是一种常见的遗传性疾病,主要由 PKD1 基因突变引起,该基因编码多囊蛋白 1(PC1)。该疾病的特征是双肾上皮衬里囊肿的发育和生长,常导致肾衰竭。目前尚无针对该疾病的特定治疗方法。在这里,我们报告了转录因子信号转导子和转录激活子 3(STAT3)在缺血性损伤和未损伤的 Pkd1 敲除多囊肾病以及人类 ADPKD 肾脏中的持续激活。通过化学文库筛选,我们发现抗寄生虫化合物乙胺嘧啶是 STAT3 功能的抑制剂。乙胺嘧啶治疗可减少人类 ADPKD 细胞的增殖,并阻断成年和新生 PKD 小鼠模型中的肾囊肿形成。此外,我们证明了一种特异性 STAT3 抑制剂 S3I-201 可减少新生 PKD 小鼠模型中的囊肿形成和生长。我们的结果表明 PC1 作为 STAT3 的负调节剂起作用,并且用乙胺嘧啶或类似药物阻断 STAT3 信号可能是治疗人类 ADPKD 的一种有吸引力的治疗方法。