Drummond Iain A
Massachusetts General Hospital, MA, USA.
Biochim Biophys Acta. 2011 Oct;1812(10):1322-6. doi: 10.1016/j.bbadis.2011.03.003. Epub 2011 Mar 9.
Polycystic kidney disease is the most common heritable disease in humans. In addition to epithelial cysts in the kidney, liver and pancreas, patients with autosomal dominant polycystic kidney disease (ADPKD) also suffer from abdominal hernia, intracranial aneurysm, gastrointestinal cysts, and cardiac valvular defects, conditions often associated with altered extracellular matrix production or integrity. Despite more than a decade of work on the principal ADPKD genes, PKD1 and PKD2, questions remain about the basis of cystic disease and the role of extracellular matrix in ADPKD pathology. This review explores the links between polycystins, focal adhesions, and extracellular matrix gene expression. These relationships suggest roles for polycystins in cell-matrix mechanosensory signaling that control matrix production and morphogenesis. This article is part of a Special Issue entitled: Polycystic Kidney Disease.
多囊肾病是人类最常见的遗传性疾病。除了肾脏、肝脏和胰腺出现上皮囊肿外,常染色体显性多囊肾病(ADPKD)患者还患有腹疝、颅内动脉瘤、胃肠道囊肿和心脏瓣膜缺损,这些病症通常与细胞外基质产生或完整性改变有关。尽管对主要的ADPKD基因PKD1和PKD2进行了十多年的研究,但关于囊性疾病的发病基础以及细胞外基质在ADPKD病理中的作用仍存在疑问。本综述探讨了多囊蛋白、黏着斑和细胞外基质基因表达之间的联系。这些关系表明多囊蛋白在控制基质产生和形态发生的细胞 - 基质机械感觉信号传导中发挥作用。本文是名为《多囊肾病》的特刊的一部分。