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Atrial fibrillation (AF) is a common cardiac arrhythmia
whose molecular etiology is poorly understood. We studied a familywith
hereditary persistent AF and identified the causative mutation(S140G)
in the KCNQ1 (KvLQT1) gene on chromosome 11p15.5.
TheKCNQ1 gene encodes the pore-forming subunit of the
cardiac IKschannel (KCNQ1/KCNE1), the
KCNQ1/KCNE2 and the KCNQ1/KCNE3 potassiumchannels. Functional analysis
of the S140G mutant revealed a gain-of-functioneffect on the
KCNQ1/KCNE1 and the KCNQ1/KCNE2 currents, whichcontrasts with the
dominant negative or loss-of-function effectsof the KCNQ1 mutations
previously identified in patients withlong QT syndrome. Thus, the
S140G mutation is likely to initiateand maintain AF by reducing action
potential duration and effectiverefractory period in atrial myocytes.
1 Department of Cardiology, Tongji Hospital,
and Institute of Medical Genetics, Tongji University, 399 Xin Cun Road,
Shanghai 200065, People's Republic of China.
2 Chinese National Human Genome Center at Shanghai,
250 Bi Bo Road, Shanghai 201203, People's Republic of China.
3 Health Science Center, Institute for Biological
Sciences-Chinese Academy of Sciences and Shanghai Second
Medical University, Shanghai 200025, People's Republic of China.
4 Institut de Pharmacologie Moléculaire et
Cellulaire, CNRS, 660 Route des lucioles, 06560 Sophia Antipolis,
France.
5 Institute of Materia Media, Chinese
Academy of Medical Sciences, 1 Xian Nong Tan Street, Beijing 100050, People's Republic of China.
6 State Key Laboratory
of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital
affiliated to Shanghai Second Medical University, Shanghai 200025, People's Republic of China.
*
These authors contributed equally to this work.
To whom correspondence should be addressed. E-mail:
drchen{at}public7.sta.net.cn (Y.-H.C.); xusj{at}chgc.sh.cn
(S.-J. X.)
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subunit of the
cardiac IKs channel (KCNQ1/KCNE1), the
KCNQ1/KCNE2 and the KCNQ1/KCNE3 potassium channels. Functional analysis
of the S140G mutant revealed a gain-of-function effect on the
KCNQ1/KCNE1 and the KCNQ1/KCNE2 currents, which contrasts with the
dominant negative or loss-of-function effects of the KCNQ1 mutations
previously identified in patients with long QT syndrome. Thus, the
S140G mutation is likely to initiate and maintain AF by reducing action
potential duration and effective refractory period in atrial myocytes.
