Doyle J L, Stubbs L
Division, Oak Ridge National Laboratory, TN 37831-8077, USA.
Trends Genet. 1998 Mar;14(3):92-8. doi: 10.1016/s0168-9525(97)01370-x.
Ion channels are essential to a wide range of physiological functions including neuronal signaling, muscle contraction, cardiac pacemaking, hormone secretion and cell proliferation. The important role that highly regulated ion influx plays in these processes has been underscored by a recent flurry of discoveries linking ion-channel gene mutations to inherited disorders. Ion channels of many different types have been demonstrated as being causative factors in genetic disease. This review discusses the growing number of disorders associated with genes of the voltage-gated ion channel superfamily, with special focus on those characterized by neurological, neuromuscular, or cardiac dysfunction in humans and mice.
离子通道对于广泛的生理功能至关重要，包括神经元信号传导、肌肉收缩、心脏起搏、激素分泌和细胞增殖。最近一系列将离子通道基因突变与遗传性疾病联系起来的发现，突显了高度调控的离子内流在这些过程中所起的重要作用。许多不同类型的离子通道已被证明是遗传疾病的致病因素。本综述讨论了与电压门控离子通道超家族基因相关的疾病数量不断增加的情况，特别关注那些在人类和小鼠中以神经、神经肌肉或心脏功能障碍为特征的疾病。
