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Long QT syndrome: ionic basis and arrhythmia mechanism in long QT syndrome type 1.

机译:长QT综合征:1型长QT综合征的离子基础和心律失常机制。

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摘要

Long QT syndrome type 1 (LQT1) causes torsades de pointes arrhythmia, ventricular fibrillation, and sudden death. It usually is inherited as an autosomal dominant trait (Romano-Ward syndrome). The primary defect in LQT1 is a mutation in KVLQT1, a gene that encodes the pore-forming alpha-subunit of a K+ channel. KvLQT1 alpha-subunits coassemble with minK beta-subunits to form channels that conduct the slow delayed rectifier K+ current (I(Ks)) in the heart. Recessive mutations in KVLQT1 cause Jervell and Lange-Nielsen syndrome, which is characterized by more severe arrhythmias and congenital neural deafness. Heterologous expression studies demonstrated that mutations in KVLQT1 reduce I(Ks) by causing loss of channel function, altered channel gating, and/or a dominant-negative effect. It remains to be proven that an understanding of the molecular basis of LQT1 will lead to more effective therapy.
机译:1型长QT综合征(LQT1)导致尖端扭转型心律失常,心室纤颤和猝死。它通常作为常染色体显性遗传(Romano-Ward综合征)遗传。 LQT1的主要缺陷是KVLQT1的突变,该基因编码K +通道的成孔性α-亚基。 KvLQT1α亚基与minKβ亚基共同组装,形成传导心脏中缓慢延迟的整流器K +电流(I(Ks))的通道。 KVLQT1的隐性突变会导致Jervell和Lange-Nielsen综合征,其特征为更严重的心律不齐和先天性神经性耳聋。异源表达研究表明,KVLQT1中的突变通过引起通道功能丧失,通道门控改变和/或显性负效应降低I(Ks)。尚需证明,对LQT1分子基础的了解将导致更有效的治疗。

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