Simula Research Laboratory, Oslo, Norway.
Department of Pharmacology, University of California, Davis, California United States of America.
PLoS Comput Biol. 2021 Aug 12;17(8):e1009233. doi: 10.1371/journal.pcbi.1009233. eCollection 2021 Aug.
Mutations are known to cause perturbations in essential functional features of integral membrane proteins, including ion channels. Even restricted or point mutations can result in substantially changed properties of ion currents. The additive effect of these alterations for a specific ion channel can result in significantly changed properties of the action potential (AP). Both AP shortening and AP prolongation can result from known mutations, and the consequences can be life-threatening. Here, we present a computational method for identifying new drugs utilizing combinations of existing drugs. Based on the knowledge of theoretical effects of existing drugs on individual ion currents, our aim is to compute optimal combinations that can 'repair' the mutant AP waveforms so that the baseline AP-properties are restored. More specifically, we compute optimal, combined, drug concentrations such that the waveforms of the transmembrane potential and the cytosolic calcium concentration of the mutant cardiomyocytes (CMs) becomes as similar as possible to their wild type counterparts after the drug has been applied. In order to demonstrate the utility of this method, we address the question of computing an optimal drug for the short QT syndrome type 1 (SQT1). For the SQT1 mutation N588K, there are available data sets that describe the effect of various drugs on the mutated K+ channel. These published findings are the basis for our computational analysis which can identify optimal compounds in the sense that the AP of the mutant CMs resembles essential biomarkers of the wild type CMs. Using recently developed insights regarding electrophysiological properties among myocytes from different species, we compute optimal drug combinations for hiPSC-CMs, rabbit ventricular CMs and adult human ventricular CMs with the SQT1 mutation. Since the 'composition' of ion channels that form the AP is different for the three types of myocytes under consideration, so is the composition of the optimal drug.
突变已知会导致整合膜蛋白(包括离子通道)的基本功能特征发生紊乱。即使是有限的或点突变也会导致离子电流的特性发生显著改变。这些改变对特定离子通道的附加效应会导致动作电位(AP)的性质发生显著变化。已知的突变可导致 AP 缩短和 AP 延长,其后果可能危及生命。在这里,我们提出了一种利用现有药物组合来识别新药的计算方法。基于对现有药物对单个离子电流的理论影响的了解,我们的目标是计算出最佳组合,可以“修复”突变的 AP 波形,从而恢复基线 AP 特性。更具体地说,我们计算出最佳的组合药物浓度,使得突变心肌细胞(CM)的跨膜电位和胞质钙浓度的波形在药物施加后尽可能类似于其野生型对应物。为了证明该方法的实用性,我们解决了计算 1 型短 QT 综合征(SQT1)最佳药物的问题。对于 N588K 突变,有可用的数据集描述了各种药物对突变 K+通道的影响。这些已发表的发现是我们计算分析的基础,该分析可以确定最佳化合物,即突变型 CM 的 AP 类似于野生型 CM 的基本生物标志物。利用最近关于来自不同物种的心肌细胞的电生理特性的见解,我们为携带 SQT1 突变的 hiPSC-CM、兔心室 CM 和成人人类心室 CM 计算了最佳药物组合。由于考虑到的三种心肌细胞形成 AP 的离子通道“组成”不同,因此最佳药物的组成也不同。