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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Nature
Article . 2003 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
Nature
Article . 2003
versions View all 2 versions

Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death

Authors: Peter J, Mohler; Jean-Jacques, Schott; Anthony O, Gramolini; Keith W, Dilly; Silvia, Guatimosim; William H, duBell; Long-Sheng, Song; +8 Authors

Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death

Abstract

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.

Keywords

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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Powered by OpenAIRE graph
citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
887
Top 1%
Top 0.1%
Top 0.1%