منابع مشابه
Beyond Long QT Syndrome
The basic science of membrane channels has set in motion striking clinical results, especially in cardiology. The clinical phenotype of cardiac channelopathies is conspicuous; sudden death or cardiac arrest may be the initial presentation. The last 2 decades have changed the face of diagnosis and treatment of inherited channelopathies for families who have a high, and often unrecognized, likeli...
متن کاملLong-QT syndrome-associated missense mutations in the pore helix of the HERG potassium channel.
BACKGROUND Mutations in the human ether-à-go-go-related gene (HERG) cause chromosome 7-linked long-QT syndrome (LQTS), an inherited disorder of cardiac repolarization that predisposes affected individuals to arrhythmia and sudden death. METHODS AND RESULTS Here, we characterize the physiological consequences of 3 LQTS-associated missense mutations (V612L, T613M, and L615V) located in the pore...
متن کاملNovel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome.
Hereditary long QT syndrome (hLQTS) is a heterogeneous genetic disease characterized by prolonged QT interval in the electrocardiogram, recurrent syncope, and sudden cardiac death. Mutations in the cardiac potassium channel HERG (KCNH2) are the second most common form of hLQTS and reduce the delayed rectifier K(+) currents, thereby prolonging repolarization. We studied a novel COOH-terminal mis...
متن کاملhERG channel trafficking: novel targets in drug-induced long QT syndrome.
The cardiac potassium channel hERG (human ether-a-go-go-related gene) encodes the alpha-subunit of the rapid delayed rectifier current I(Kr) in the heart, which contributes to terminal repolarization in human cardiomyocytes. Direct block of hERG/I(Kr) channels by a large number of therapeutic compounds produces acLQTS [acquired LQTS (long QT syndrome)] characterized by drug-induced QT prolongat...
متن کاملHERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects.
Mutations in HERG are associated with human chromosome 7-linked congenital long QT (LQT-2) syndrome. We used electrophysiological, biochemical, and immunohistochemical methods to study the molecular mechanisms of HERG channel dysfunction caused by LQT-2 mutations. Wild type HERG and LQT-2 mutations were studied by stable and transient expression in HEK 293 cells. We found that some mutations (Y...
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ژورنال
عنوان ژورنال: Acta Pharmacologica Sinica
سال: 2013
ISSN: 1671-4083,1745-7254
DOI: 10.1038/aps.2013.6