Loussouarn Gildas, Baró Isabelle, Escande Denis
L'institut du Thorax, Inserm U533, Université de Nantes, France.
Methods Mol Biol. 2006;337:167-83. doi: 10.1385/1-59745-095-2:167.
KCNQ1 is a voltage-activated potassium channel alpha-subunit expressed in various cell types, including cardiac myocytes and epithelial cells. KCNQ1 associates with different beta-subunits of the KCNE protein family. In the human heart, KCNQ1 associates with KCNE1 to generate the IKs current characterized by its slow activation and deactivation kinetics. Mutations in either KCNQ1 or KCNE1 are responsible for at least four channelopathies that lead to cardiac dysfunction and one that leads to congenital deafness: the Romano-Ward syndrome, the short QT syndrome, atrial fibrillation, and the Jervell and Lange-Nielsen syndrome (cardioauditory syndrome). To date, nearly 100 different KCNQ1 mutations have been reported as responsible for the cardiac long QT syndrome, characterized by prolonged QT interval, syncopes, and sudden death. Patch clamp and immunofluorescence techniques are instrumental for characterization of the molecular mechanisms responsible for the altered function of KCNQ1 and its partners.
KCNQ1是一种电压激活钾通道α亚基，表达于多种细胞类型，包括心肌细胞和上皮细胞。KCNQ1与KCNE蛋白家族的不同β亚基相关联。在人类心脏中，KCNQ1与KCNE1结合产生IKs电流，其特征在于激活和失活动力学缓慢。KCNQ1或KCNE1中的突变至少导致四种导致心脏功能障碍的离子通道病和一种导致先天性耳聋的疾病： Romano-Ward综合征、短QT综合征、心房颤动和Jervell和Lange-Nielsen综合征（心听觉综合征）。迄今为止，已报道近100种不同的KCNQ1突变导致心脏长QT综合征，其特征为QT间期延长、晕厥和猝死。膜片钳和免疫荧光技术有助于表征导致KCNQ1及其伴侣功能改变的分子机制。
