Meneton P, Lesage F, Barhanin J
INSERM U367, Paris, France.
Semin Nephrol. 1999 Sep;19(5):438-57.
The identification of multigene families encoding K-ATPases, K channels, and K transporters is a major step in understanding the molecular mechanisms engaged in K homeostasis. These membrane proteins, which also transport Na, H, or Cl ions, have been shown to play fundamental roles in cellular housekeeping functions (volume regulation, uptake of nutrients) and in specialized tissue functions (transepithelial transport of solutes and water, uptake of neurotransmitters, control of vascular tone). The association of mutations (especially in the K channels) with human diseases and disorders as well as the creation of animal models harboring specific gene inactivation should allow investigators to reach nonambiguous conclusions about the roles of these genes. These approaches should be complemented by techniques such as DNA array and chip hybridization and computer-based simulation in order to form an integrated view of the functional interactions between the genes underlying physiological and pathological processes.
鉴定编码钾离子ATP酶、钾离子通道和钾离子转运体的多基因家族是理解参与钾离子稳态的分子机制的重要一步。这些膜蛋白还能转运钠、氢或氯离子,已被证明在细胞维持功能(体积调节、营养物质摄取)和特殊组织功能(溶质和水的跨上皮转运、神经递质摄取、血管张力控制)中发挥着重要作用。突变(尤其是钾离子通道中的突变)与人类疾病和病症的关联,以及建立携带特定基因失活的动物模型,应能使研究人员就这些基因的作用得出明确结论。这些方法应辅以DNA阵列和芯片杂交以及基于计算机的模拟等技术,以便对生理和病理过程背后基因之间的功能相互作用形成综合观点。