Sci. STKE, 14 January 2003
Heart Disease Out of Rhythm
Atrial fibrillation (AF), a common rhythm disturbance in the heart, is increasing in prevalence as the population ages, yet little is known about its molecular pathogenesis. Chen et al. studied a large family in China with hereditary AF and identified the culprit gene as KCNQ1 on chromosome 11p15.5. KCNQ1 encodes a potassium channel subunit that has been previously linked to the pathogenesis of familial ventricular fibrillation and long QT syndrome. Importantly, the KCNQ1 mutations in the latter disorders lead to loss of channel function, whereas the mutation in the AF family produces a gain of function. Thus, alterations in a single ion channel can evoke distinct heart arrhythmias, a finding that may have important implications for the pharmacologic treatment of these disorders.
Y.-H. Chen, S.-J. Xu, S. Bendahhou, X.-L. Wang, Y. Wang, W.-Y. Xu, H.-W. Jin, H. Sun, X.-Y. Su, Q.-N. Zhuang, Y.-Q. Yang, Y.-B. Li, Y. Liu, H.-J. Xu, X.-F. Li, N. Ma, C.-P. Mou, Z. Chen, J. Barhanin, W. Huang, KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science 299, 251-254 (2003). [Abstract] [Full Text]
Citation: Out of Rhythm. Sci. STKE 2003, tw26 (2003).
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