Abstract
LQT2 is one form of the congenital long QT syndrome. It results from mutations in the human ether-a-go-go-related gene (HERG), and more than 80 mutations, usually causing single amino acid substitutions in the HERG protein, are known. HERG encodes the ion channel pore-forming subunit protein for the rapidly activating delayed rectifier K+ channel (I(Kr)) in the heart. This review summarizes current findings about mutations causing LQT2, the mechanisms by which mutations may cause the clinical phenotype of a reduction in I(Kr) and a prolonged QT interval, and how this may be involved in the generation of ventricular arrhythmias.
MeSH terms
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Amino Acid Substitution
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Arrhythmias, Cardiac / etiology
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Arrhythmias, Cardiac / metabolism
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Arrhythmias, Cardiac / physiopathology*
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Arrhythmias, Cardiac / therapy
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Cation Transport Proteins*
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DNA-Binding Proteins*
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ERG1 Potassium Channel
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Ether-A-Go-Go Potassium Channels
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Genes, Dominant
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Humans
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Long QT Syndrome / complications
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Long QT Syndrome / genetics
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Long QT Syndrome / physiopathology*
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Long QT Syndrome / therapy
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Mutation
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Potassium / metabolism
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Potassium Channels / genetics
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Potassium Channels / metabolism
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Potassium Channels, Voltage-Gated*
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Protein Transport / genetics
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Temperature
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Trans-Activators*
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Transcriptional Regulator ERG
Substances
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Cation Transport Proteins
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DNA-Binding Proteins
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ERG protein, human
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ERG1 Potassium Channel
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Ether-A-Go-Go Potassium Channels
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KCNH2 protein, human
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KCNH6 protein, human
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Potassium Channels
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Potassium Channels, Voltage-Gated
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Trans-Activators
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Transcriptional Regulator ERG
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Potassium