Genetic Characteristics and Transcriptional Regulation of Sodium Channel Related Genes in Chinese Patients With Brugada Syndrome

Frontiers in Cardiovascular Medicine

article

Ziguan Zhang¹  Hongwei Chen¹  Wenbo Chen¹  Zhenghao Zhang¹  Runjing Li¹  Jiajia Xu¹  Cui Yang¹  Minwei Chen¹  Shixiao Liu¹  Yanling Li¹  TzungDau Wang²  Xin Tu³  Zhengrong Huang¹ 

[1] Department of Cardiology, Xiamen Key Laboratory of Cardiac Electrophysiology, Xiamen Institute of Cardiovascular Diseases, The First Affiliated Hospital of Xiamen University, School of Medicine, Xiamen University;Department of Internal Medicine, Cardiovascular Center and Division of Cardiology, National Taiwan University Hospital and National Taiwan University College of Medicine;Cardio-X Center, 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

关键词: brugada;    SCN5A;    China;    genetic characteristics;    post-transcriptional modifications;   

DOI  :  10.3389/fcvm.2021.714844

学科分类：地球科学(综合)

来源: Frontiers

【 摘 要 】

Objective: To investigate the genetic characteristics and transcriptional regulation of the SCN5A gene of Brugada syndrome (BrS) patients in China. Methods: Using PubMed, Medline, China National Knowledge Internet (CNKI), and Wanfang Database, Chinese patients with BrS who underwent SCN5A gene testing were studied. Results: A total of 27 suitable studies involving Chinese BrS patients who underwent the SCN5A gene test were included. A total of 55 SCN5A gene mutations/variations were reported in Chinese BrS patients, including 10 from southern China and 45 from northern China. Mutations/variations of BrS patients from southern China mostly occurred in the regions of the α-subunit of Nav1.5, including DIII (Domain III), DIV, DIII-DIV, C-terminus regions, and the 3'UTR region. Furthermore, we analyzed the post-transcriptional modifications (PTMs) throughout the Nav1.5 protein encoded by SCN5A and found that the PTM changes happened in 72.7% of BrS patients from southern China and 26.7% from northern China. Conclusions: SCN5A mutations/variations of BrS patients in southern China mostly occurred in the DIII-DIV to C-terminus region and the 3'-UTR region of the SCN5A gene, different from northern China. PTM changes were consistent with the mutation/variation distribution of SCN5A, which might be involved in the regulation of the pathogenesis of BrS patients.

【 授权许可】

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