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Ain't got rhythm

Jonathan B Weitzman

Author Affiliations

Genome Biology 2003, 4:spotlight-20030210-01  doi:10.1186/gb-spotlight-20030210-01

The electronic version of this article is the complete one and can be found online at:


Published:10 February 2003

© 2003 BioMed Central Ltd

Research news

In the February 6 Nature Mohler et al. report the discovery of mutations in the gene encoding ankyrin-B (known as ankyrin 2) in patients suffering from cardiac arrhythmia and inherited long-QT syndrome (Nature 2003, 421:634-639). An A-to-G transition results in a glutamic acid-to-glycine substitution. Mice heterozygote for a null mutation in ANKB also displayed cardiomyocyte defects, cardiac arrythmia and sudden death after exercise. The ankyrin-B protein appears to be important for regulating expression of the sodium pump, the sodium/calcium exchanger, inositol-1,4,5-triphospate receptors, as well as Ca2+ signalling. This is the first report of a mutation in congenital long-QT syndrome that affects a protein other than an ion channel or channel subunit.

References

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  3. Molecular and cellular mechanisms of cardiac arrhythmias.

    PubMed Abstract | Publisher Full Text OpenURL