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首页> 外文会议>Computing in Cardiology Conference >Action potential abnormalities due to loss- or gain-of-function mutations in KCNJ2
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Action potential abnormalities due to loss- or gain-of-function mutations in KCNJ2

机译：由于KCNJ2中功能丧失或获得功能突变而引起的动作电位异常

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摘要

Andersen-Tawil syndrome type 1 (ATS1) and short QT syndrome type 3 (SQT3) are associated with loss-of-function and gain-of-function mutations in the KCNJ2 gene, respectively. This gene encodes the Kir2.1 protein, which is the most abundant member of the Kir2.x family in the Kir2.x tetramers that constitute the channels that conduct the cardiac inward rectifier potassium current (I). The effects of ATS1 and SQT3 related mutations in KeNJ2 on the electrophysiological characteristics of human ventricular cells were assessed in computer simulations using the updated ten Tusscher et al. human ventricular cell model. The model I was replaced with either wild-type or heterozygous mutant Kir2.1 current. In ATS1 simulations, the action potential was only modestly prolonged and calcium-driven spontaneous action potentials could be observed. The resting membrane potential was depolarized by 7 m V, thereby reducing sodium channel availability and thus contributing to a noticeable decrease in conduction velocity. In SQT3 simulations, effects on resting membrane potential and conduction velocity were relatively small. However, action potentials with a markedly shortened duration, increasing the susceptibility to tachyarrhythmias, could be elicited.
机译：1型Andersen-Tawil综合征（ATS1）和3型短QT综合征（SQT3）分别与KCNJ2基因的功能丧失和功能获得突变相关。该基因编码Kir2.1蛋白，该蛋白是Kir2.x四聚体中Kir2.x家族中最丰富的成员，构成了传导心脏向内整流钾电流（I）的通道。使用更新的十个Tusscher等人在计算机模拟中评估了KeNJ2中ATS1和SQT3相关突变对人心室细胞电生理特性的影响。人心室细胞模型。用野生型或杂合突变体Kir2.1电流替代模型I。在ATS1模拟中，仅适度延长了动作电位，并且可以观察到钙驱动的自发动作电位。静息膜电位被7 m V去极化，从而降低了钠通道的利用率，从而导致传导速度显着下降。在SQT3模拟中，对静息膜电位和传导速度的影响相对较小。但是，可以发现持续时间明显缩短的动作电位，增加了对快速性心律失常的敏感性。

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