Hummler Edith
Institut de Pharmacologie et de Toxicologie, Université de Lausanne, Rue du Bugnon 27, CH-1005 Lausanne, Switzerland.
Curr Hypertens Rep. 2003 Feb;5(1):11-8. doi: 10.1007/s11906-003-0005-1.
The epithelial sodium channel (ENaC) is a membrane protein made of three different but homologous subunits (a, b, and g) present in the apical membrane of epithelial cells of, for example, the distal nephron. This channel is responsible for salt reabsorption in the kidney and can cause human diseases by increasing channel function in Liddle's syndrome, a form of hereditary hypertension, or by decreasing channel function in pseudohypoaldosteronism type I, a salt-wasting disease in infancy. This review briefly discusses recent advances in understanding the implication of ENaC in Liddle's syndrome and in pseudohypoaldosteronism type I, both caused by mutations in the SCNN1 (ENaC) genes. Furthermore, it is still an open question to which extent SCNN1 genes coding for ENaC might be implicated in essential hypertension. The development of Scnn1 genetically engineered mouse models will provide the opportunity to test the effect of environmental factors, like salt intake, on the development of this kind of salt- sensitive hypertension.
上皮钠通道(ENaC)是一种膜蛋白,由三个不同但同源的亚基(α、β和γ)组成,存在于例如远端肾单位上皮细胞的顶端膜中。该通道负责肾脏中的盐分重吸收,可通过增加通道功能导致利德尔综合征(一种遗传性高血压)中的人类疾病,或通过降低通道功能导致I型假性醛固酮增多症(一种婴儿期的失盐性疾病)。本综述简要讨论了在理解ENaC在利德尔综合征和I型假性醛固酮增多症中的作用方面的最新进展,这两种疾病均由SCNN1(ENaC)基因突变引起。此外,编码ENaC的SCNN1基因在多大程度上可能与原发性高血压有关仍是一个悬而未决的问题。Scnn1基因工程小鼠模型的开发将提供机会来测试环境因素(如盐摄入)对这种盐敏感性高血压发展的影响。