Ain't got rhythm
© BioMed Central Ltd 2003
Published: 10 February 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.