抄録
Kidney is the main organ in the maintenance of water and electrolyte homeostasis of extracellular fluid of the body. Extensive physiological research has been performed to understand this important kidney function. The research has developed from the organ level to molecular level and the development was accompanied by advancement of experimental technology, i.e., from the clearance method to molecular biology. Molecular biological studies have identified a wide variety of channel and transporter proteins that exist in renal epithelial cells. Coupled with human genetic studies it has been shown that mutations of the genes encoding renal membrane transport proteins (channels and transporters) cause human hereditary diseases such as water and solute loosing or retaining diseases. At present nearly all genes responsible for relatively popular human hereditary solute and water disorders have been determined and the current research interest is focusing on the mechanisms of regulation of the membrane transport proteins at molecular level. For this aim the disease-causing mutations found in hereditary diseases have provided valuable information, for example, possible phosphorylation sites and protein-protein interaction domains. In this lecture, I will present our data on water channels (aquaporin) and chloride channels and their diseases of the kidney, and will show how molecular and genetic studies work together to open a new field of the transport protein research. [J Physiol Sci. 2006;56 Suppl:S2]
