Chávez-Canales María, Gamba Gerardo
Unidad de Investigación UNAM-INCICH, Instituto Nacional de Cardiología Ignacio Chávez and Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Mexico City, Mexico.
Molecular Physiology Unit, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Mexico City, Mexico.
Am J Physiol Renal Physiol. 2025 Feb 1;328(2):F258-F269. doi: 10.1152/ajprenal.00272.2024. Epub 2024 Dec 31.
The field of the with-no-lysine kinases (WNKs) regulation of the thiazide-sensitive NaCl cotransporter (NCC) began at the start of the century with the discovery that mutations in two members of the family, WNK1 and WNK4, resulted in a condition known as familial hyperkalemic hypertension (FHHt). Since FHHt is the mirror image of Gitelman's syndrome that is caused by inactivating mutations of the SLC12A3 gene encoding NCC, it was expected that WNKs modulated NCC activity and that the increased function of the cotransporter is the pathophysiological mechanism of FFHt. This turned out to be the case. However, experiments over the first years generated unexpected observations that confused the field. Although most has been clarified, one issue still under a certain level of controversy is the role of an isoform of WNK1 that is only expressed in the kidney, almost entirely in the distal convoluted tubule, known as KS-WNK1. In this work, we present an overview of how the knowledge about the physiology of KS-WNK1 evolved over the years and propose explanations to understand its role in renal physiology.
无赖氨酸激酶(WNK)对噻嗪类敏感的氯化钠协同转运蛋白(NCC)的调节领域始于本世纪初,当时发现该家族的两个成员WNK1和WNK4发生突变会导致一种名为家族性高钾性高血压(FHHt)的病症。由于FHHt与吉特曼综合征相反,后者由编码NCC的SLC12A3基因的失活突变引起,因此预计WNK会调节NCC活性,并且协同转运蛋白功能增强是FHHt的病理生理机制。事实证明确实如此。然而,最初几年的实验产生了一些意想不到的观察结果,使该领域陷入混乱。尽管大多数问题已经得到澄清,但仍存在一定争议的一个问题是仅在肾脏中表达、几乎完全在远曲小管中表达的WNK1同工型KS-WNK1的作用。在这项工作中,我们概述了多年来关于KS-WNK1生理学的认识是如何演变的,并提出了解释以理解其在肾脏生理学中的作用。