Dorn Livia, Menezes Luís F, Mikuz Gregor, Otto Herwart F, Onuchic Luiz F, Sergi Consolato
Institute of Pathology, University of Innsbruck, Innsbruck, Austria.
J Cell Mol Med. 2009 Jul;13(7):1279-90. doi: 10.1111/j.1582-4934.2008.00519.x. Epub 2008 Oct 6.
The longest open reading frame of PKHD1 (polycystic kidney and hepatic disease 1), the autosomal recessive polycystic kidney disease (ARPKD) gene, encodes a single-pass, integral membrane protein named polyductin or fibrocystin. A fusion protein comprising its intracellular C-terminus, FP2, was previously used to raise a polyclonal antiserum shown to detect polyductin in several human tissues, including liver. In the current study, we aimed to investigate by immunohistochemistry the detailed polyductin localization pattern in normal (ductal plate [DP], remodelling ductal plate [RDP], remodelled bile ducts) and abnormal development of the primitive intrahepatic biliary system, known as ductal plate malformation (DPM). This work also included the characterization of polyductin expression profile in various histological forms of neonatal and infantile cholestasis, and in cholangiocellular carcinoma (CCC) and hepatocellular carcinoma (HCC). We detected polyductin expression in the intrahepatic biliary system during the DP and the RDP stages as well as in DPM. No specific staining was found at the stage of remodelled bile ducts. Polyductin was also detected in liver biopsies with neonatal cholestasis, including mainly biliary atresia and neonatal hepatitis with ductular reaction as well as congenital hepatic fibrosis. In addition, polyductin was present in CCC, whereas it was absent in HCC. Polyductin was also co-localized in some DP cells together with oval stem cell markers. These results represent the first systematic study of polyductin expression in human pathologies associated with abnormal development of intrahepatic biliary tree, and support the following conclusions: (i) polyductin expression mirrors developmental properties of the primitive intrahepatic biliary system; (ii) polyductin is re-expressed in pathological conditions associated with DPM and (iii) polyductin might be a potential marker to distinguish CCC from HCC.
多囊肝肾病1(PKHD1)是常染色体隐性多囊肾病(ARPKD)的致病基因,其最长的开放阅读框编码一种单次跨膜整合膜蛋白,称为多囊蛋白或纤维囊肿蛋白。一种包含其细胞内C端的融合蛋白FP2,此前被用于制备多克隆抗血清,该抗血清可在包括肝脏在内的多种人体组织中检测到多囊蛋白。在本研究中,我们旨在通过免疫组织化学方法,研究多囊蛋白在正常(胆管板[DP]、重塑胆管板[RDP]、重塑胆管)以及肝内原始胆管系统异常发育(即胆管板畸形[DPM])中的详细定位模式。这项工作还包括对多囊蛋白在各种组织学类型的新生儿和婴儿胆汁淤积、胆管细胞癌(CCC)和肝细胞癌(HCC)中的表达谱进行表征。我们在DP和RDP阶段以及DPM的肝内胆管系统中检测到了多囊蛋白的表达。在重塑胆管阶段未发现特异性染色。在新生儿胆汁淤积的肝活检组织中也检测到了多囊蛋白,主要包括胆道闭锁、伴有胆管反应的新生儿肝炎以及先天性肝纤维化。此外,多囊蛋白在CCC中存在,而在HCC中不存在。多囊蛋白还与卵圆干细胞标志物共同定位于一些DP细胞中。这些结果代表了对多囊蛋白在与肝内胆管树异常发育相关的人类病理学中的表达进行的首次系统研究,并支持以下结论:(i)多囊蛋白的表达反映了肝内原始胆管系统的发育特性;(ii)多囊蛋白在与DPM相关的病理条件下重新表达;(iii)多囊蛋白可能是区分CCC和HCC的潜在标志物。