Jiang Lu, Sun Lina, Edwards Genea, Manley Michael, Wallace Darren P, Septer Seth, Manohar Chirag, Pritchard Michele T, Apte Udayan
Department of Pharmacology, Toxicology and Therapeutics, University of Kansas Medical Center, Kansas City, KS, USA.
Department of Internal Medicine, University of Kansas Medical Center, Kansas City, KS, USA.
Gene Expr. 2017 Nov 27;17(4):313-326. doi: 10.3727/105221617X15034976037343. Epub 2017 Sep 15.
Autosomal recessive polycystic kidney disease/congenital hepatic fibrosis (ARPKD/CHF) is a rare but fatal genetic disease characterized by progressive cyst development in the kidneys and liver. Liver cysts arise from aberrantly proliferative cholangiocytes accompanied by pericystic fibrosis and inflammation. Yes-associated protein (YAP), the downstream effector of the Hippo signaling pathway, is implicated in human hepatic malignancies such as hepatocellular carcinoma, cholangiocarcinoma, and hepatoblastoma, but its role in hepatic cystogenesis in ARPKD/CHF is unknown. We studied the role of the YAP in hepatic cyst development using polycystic kidney (PCK) rats, an orthologous model of ARPKD, and in human ARPKD/CHF patients. The liver cyst wall epithelial cells (CWECs) in PCK rats were highly proliferative and exhibited expression of YAP. There was increased expression of YAP target genes, Ccnd1 (cyclin D1) and Ctgf (connective tissue growth factor), in PCK rat livers. Extensive expression of YAP and its target genes was also detected in human ARPKD/CHF liver samples. Finally, pharmacological inhibition of YAP activity with verteporfin and short hairpin (sh) RNA-mediated knockdown of YAP expression in isolated liver CWECs significantly reduced their proliferation. These data indicate that increased YAP activity, possibly through dysregulation of the Hippo signaling pathway, is associated with hepatic cyst growth in ARPKD/CHF.
常染色体隐性多囊肾病/先天性肝纤维化(ARPKD/CHF)是一种罕见但致命的遗传性疾病,其特征是肾脏和肝脏中囊肿进行性发展。肝囊肿由异常增殖的胆管细胞产生,并伴有囊肿周围纤维化和炎症。Yes相关蛋白(YAP)是Hippo信号通路的下游效应物,与人类肝脏恶性肿瘤如肝细胞癌、胆管癌和肝母细胞瘤有关,但其在ARPKD/CHF肝囊肿发生中的作用尚不清楚。我们使用多囊肾(PCK)大鼠(ARPKD的直系同源模型)和人类ARPKD/CHF患者研究了YAP在肝囊肿发展中的作用。PCK大鼠的肝囊肿壁上皮细胞(CWECs)高度增殖,并表现出YAP的表达。PCK大鼠肝脏中YAP靶基因Ccnd1(细胞周期蛋白D1)和Ctgf(结缔组织生长因子)的表达增加。在人类ARPKD/CHF肝脏样本中也检测到YAP及其靶基因的广泛表达。最后,用维替泊芬对YAP活性进行药理抑制以及在分离的肝脏CWECs中用短发夹(sh)RNA介导的YAP表达敲低显著降低了它们的增殖。这些数据表明,YAP活性增加,可能是通过Hippo信号通路失调,与ARPKD/CHF中的肝囊肿生长有关。