Department of Anesthesiology, Pharmacology, and Therapeutics, University of British Columbia, Vancouver, British Columbia, Canada.
Biophys J. 2011 Aug 3;101(3):662-70. doi: 10.1016/j.bpj.2011.06.028.
G628S is a mutation in the signature sequence that forms the selectivity filter of the human ether-a-go-go-related gene (hERG) channel (GFG) and is associated with long-QT2 syndrome. G628S channels are known to have a dominant-negative effect on hERG currents, and the mutant is therefore thought to be nonfunctional. This study aims to assess the physiological mechanism that prevents the surface-expressing G628S channels from conducting ions. We used voltage-clamp fluorimetry along with two-microelectrode voltage clamping in Xenopus oocytes to confirm that the channels express well at the surface, and to show that they are actually functional, with activation kinetics comparable to that of wild-type, and that the mutation leads to a reduced selectivity to potassium. Although ionic currents are not detected in physiological solutions, removing extracellular K(+) results in the appearance of an inward Na(+)-dependent current. Using whole-cell patch clamp in mammalian transfected cells, we demonstrate that the G628S channels conduct Na(+), but that this can be blocked by both intracellular and higher-than-physiological extracellular K(+). Using solutions devoid of K(+) allows the appearance of nA-sized Na(+) currents with activation and inactivation gating analogous to wild-type channels. The G628S channels are functionally conducting but are normally blocked by intracellular K(+).
G628S 是人类 ether-a-go-go 相关基因 (hERG) 通道选择性滤器形成序列中的一个突变(GFG),与长 QT2 综合征有关。已知 G628S 通道对 hERG 电流具有显性负效应,因此该突变体被认为是非功能性的。本研究旨在评估防止表面表达的 G628S 通道传导离子的生理机制。我们使用电压钳荧光法和双微电极电压钳在非洲爪蟾卵母细胞中进行实验,以确认通道在表面表达良好,并表明它们实际上是功能性的,其激活动力学与野生型相当,并且该突变导致钾离子选择性降低。尽管在生理溶液中未检测到离子电流,但去除细胞外 K(+) 会导致内向 Na(+) 依赖性电流的出现。我们使用哺乳动物转染细胞中的全细胞贴附式膜片钳技术,证明 G628S 通道传导 Na(+),但这可以被细胞内和高于生理的细胞外 K(+) 阻断。使用不含 K(+) 的溶液可以使 nA 大小的 Na(+) 电流出现,其激活和失活门控与野生型通道类似。G628S 通道具有功能传导性,但通常被细胞内 K(+) 阻断。