Cited by 957Cardiac electrophysiology and arrhythmiasIon channel regulation and functionIon Transport and Channel Regulation

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

Mohler, Peter J., Schott, Jean-Jacques, Gramolini, Anthony O., Dilly, Keith W., Guatimosim, Silvia, duBell, William H., Song, Long-Sheng, Haurogné, Karine, Kyndt, Florence, Ali, Mervat E., Rogers, Terry B., Lederer, W. J., Escande, Denis, Marec, Herve Le, Bennett, Vann·2003·Nature

DOI 10.1038/nature01335

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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.

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Authors: Mohler, P. J., Schott, J.-J., Gramolini, A. O., Dilly, K. W., Guatimosim, S., duBell, W. H., Song, L.-S., Haurogné, K., Kyndt, F., Ali, M. E., Rogers, T. B., Lederer, W. J., Escande, D., Marec, H. L., & Bennett, V.
Affiliations: Howard Hughes Medical Institute (US)
Inserm (FR)
University of Maryland, Baltimore (US)
Corresponding author: Bennett, Vann
ORCID: Mohler, Peter J.
Schott, Jean-Jacques
Gramolini, Anthony O.
Dilly, Keith W.
Song, Long-Sheng
Kyndt, Florence
Lederer, W. J.
Escande, Denis
Bennett, Vann
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2003-02
Volume: 421
Issue: 6923
Pages: 634-639
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature01335
OpenAlex: W2115923216
Cited by: 957
References: 35
Citations by year: 2026: 8 · 2025: 7 · 2024: 14 · 2023: 19 · 2022: 23 · 2021: 19 · 2020: 18 · 2019: 22 · 2018: 22 · 2017: 29 · 2016: 27 · 2015: 33 · 2014: 30 · 2013: 56 · 2012: 55
FWCI: 63.04
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
RePEc: Research Papers in Economics (submittedVersion)
Funders: Howard Hughes Medical Institute
Institut National de la Santé et de la Recherche Médicale
Topics: Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion Transport and Channel Regulation
Keywords: ankyrin-B, sudden cardiac death, cardiac arrhythmias, loss-of-function mutations, haploinsufficiency, Na+/K+-ATPase, Na+/Ca2+ exchanger, IP3 receptor, T-tubules, protein targeting, calcium signaling, extrasystoles
MeSH terms: Action Potentials, Sodium-Potassium-Exchanging ATPase, Animals, Bradycardia, Electrocardiography, Female, Heart, Heart Rate, Heterozygote, Humans, Long QT Syndrome, Male, Mutation, Myocardium, Pedigree, Phenotype, Protein Binding, Calcium Channels, Death, Sudden, Cardiac, Ankyrins, Receptors, Cytoplasmic and Nuclear, Patch-Clamp Techniques, Sodium-Calcium Exchanger, Calcium Signaling, Mice, Inositol 1,4,5-Trisphosphate Receptors

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

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