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Ain't got rhythm
Genome Biology volume 4, Article number: spotlight-20030210-01 (2003)
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.
Nature , [http://www.nature.com]
Molecular and cellular mechanisms of cardiac arrhythmias.
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Weitzman, J.B. Ain't got rhythm. Genome Biol 4, spotlight-20030210-01 (2003). https://doi.org/10.1186/gb-spotlight-20030210-01
- Sudden Death
- Cardiac Arrhythmia
- Null Mutation
- Channel Subunit