Research articles

Molecular genetics of Brugada syndrome

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  • 1.Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan 430074, China;Cardio-X Institute, Huazhong University of Science and Technology, Wuhan 430074, China; 2.Institute of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430074, China; 3.Cardio-X Institute, Huazhong University of Science and Technology, Wuhan 430074, China;Institute of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430074, China; 4.Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan 430074, China;Cardio-X Institute, Huazhong University of Science and Technology, Wuhan 430074, China;Center for Cardiovascular Genetics, Cleveland Clinic, Cleveland, OH 44195, USA;

Published date: 01 Aug 2010

Abstract

Brugada syndrome (BrS) is a life-threatening cardiac rhythm disorder characterized by persistent ST-segment elevation in leads V1―V3 and right bundle branch block on electrocardiograms (ECG), and by syncope and sudden death from ventricular tachycardia (VT) and ventricular fibrillation (VF). BrS is responsible for nearly 4% of sudden cardiac deaths and considered to be the most common cause of natural death in males younger than 50 years in some Asian countries. Since the first disease-causing gene for BrS (the cardiac sodium channel gene SCN5A) was identified in 1998, extensive investigations on both clinical and basic aspects of BrS have occurred rapidly. SCN5A mutations remain the most common cause of BrS; nearly 300 SCN5A mutations have been identified and are responsible for 20%―30% of BrS cases. Commercial genetic testing is available for SCN5A. Recently, seven other disease-causing genes for BrS have been identified and include GPD1L (BrS2), CACNA1C (Cav1.2, BrS3), CACNB2 (Cavβ2, BrS4), SCN1B (Navβ1, BrS5), KCNE3 (MiRP2, BrS6), SCN3B (Navβ3, BrS7), and HCN4 (BrS8). This article will briefly review the progress made over the past decade in our understanding of the clinical, genetic and molecular aspects of BrS.

Cite this article

Tie KE, Xin TU, Shuoyan ZHANG, Yuhua LIAO, Qing K. WANG, . Molecular genetics of Brugada syndrome[J]. Frontiers in Biology, 2010 , 5(4) : 339 -347 . DOI: 10.1007/s11515-010-0056-z

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