
doi: 10.1038/nature01335
pmid: 12571597
Mutations in ion channels involved in the generation and termination of action potentials constitute a family of molecular defects that underlie fatal cardiac arrhythmias in inherited long-QT syndrome. We report here that a loss-of-function (E1425G) mutation in ankyrin-B (also known as ankyrin 2), a member of a family of versatile membrane adapters, causes dominantly inherited type 4 long-QT cardiac arrhythmia in humans. Mice heterozygous for a null mutation in ankyrin-B are haploinsufficient and display arrhythmia similar to humans. Mutation of ankyrin-B results in disruption in the cellular organization of the sodium pump, the sodium/calcium exchanger, and inositol-1,4,5-trisphosphate receptors (all ankyrin-B-binding proteins), which reduces the targeting of these proteins to the transverse tubules as well as reducing overall protein level. Ankyrin-B mutation also leads to altered Ca2+ signalling in adult cardiomyocytes that results in extrasystoles, and provides a rationale for the arrhythmia. Thus, we identify a new mechanism for cardiac arrhythmia due to abnormal coordination of multiple functionally related ion channels and transporters.
Ankyrins, Male, Heterozygote, Patch-Clamp Techniques, Myocardium, Action Potentials, Heart, Electrocardiography, Long QT Syndrome, Mice, Death, Sudden, Cardiac, Heart Rate, Mutation, Bradycardia, Animals, Humans, Inositol 1,4,5-Trisphosphate Receptors, Female, Calcium Channels, Calcium Signaling
Ankyrins, Male, Heterozygote, Patch-Clamp Techniques, Myocardium, Action Potentials, Heart, Electrocardiography, Long QT Syndrome, Mice, Death, Sudden, Cardiac, Heart Rate, Mutation, Bradycardia, Animals, Humans, Inositol 1,4,5-Trisphosphate Receptors, Female, Calcium Channels, Calcium Signaling
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