Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death
Nature, ISSN: 0028-0836, Vol: 421, Issue: 6923, Page: 634-639
2003
- 864Citations
- 283Captures
- 2Mentions
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Metrics Details
- Citations864
- Citation Indexes858
- 858
- CrossRef727
- Clinical Citations3
- PubMed Guidelines3
- Policy Citations2
- Policy Citation2
- Patent Family Citations1
- Patent Families1
- Captures283
- Readers283
- 283
- Mentions2
- References2
- Wikipedia2
Article Description
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 Ca 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.
Bibliographic Details
Springer Science and Business Media LLC
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