Knoers N V, Deen P M
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
Curr Opin Pediatr. 1998 Aug;10(4):428-34. doi: 10.1097/00008480-199808000-00018.
In the past year, significant progress has been achieved in the research on aquaporins (AQPs), a family of structurally related molecular water channels. Three novel AQPs were identified, giving a total of ten mammalian AQPs. An important step forward in identifying the aqueous pore in AQP molecules was the determination of the three-dimensional structure of AQP1. The expression pattern of individual AQPs in different tissues was determined in more detail and AQP-knockout mice have been generated. The discovery of a severe urinary concentrating defect in AQP1-knockout mice was remarkable. Only AQP2, the vasopressin-sensitive water channel in the kidney, which is mutated in autosomal recessive and dominant cases of nephrogenic diabetes insipidus, has been shown to be involved in human disease. The finding of changed AQP2 expression in several acquired water balance disorders may pave the way toward developing treatments for these clinical problems.
在过去的一年里，水通道蛋白（AQPs）的研究取得了重大进展。水通道蛋白是一类结构相关的分子水通道家族。已鉴定出三种新型水通道蛋白，使哺乳动物水通道蛋白的总数达到十种。确定水通道蛋白1的三维结构是在识别水通道蛋白分子中的水孔方面向前迈出的重要一步。更详细地确定了各个水通道蛋白在不同组织中的表达模式，并培育出了水通道蛋白基因敲除小鼠。水通道蛋白1基因敲除小鼠出现严重的尿液浓缩缺陷这一发现引人注目。只有水通道蛋白2，即肾脏中对血管加压素敏感的水通道，在常染色体隐性和显性肾性尿崩症病例中发生突变，已被证明与人类疾病有关。在几种获得性水平衡紊乱中发现水通道蛋白2表达发生变化，可能为开发针对这些临床问题的治疗方法铺平道路。
