Abstract
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.
Highlights
Brugada syndrome (BrS) is an inheritable arrhythmogenic disease
About 30–35% of BrS patients were identified with pathogenic mutant genes, while SCN5A mutations/variations encoding the Nav1.5 α-subunit of the cardiac sodium channel accounted for 20 to 30% [5, 8,9,10]
Our main findings in the study of the genetic characteristics of SCN5A in Chinese BrS patients were as follows: [1] More SCN5A gene mutations/variations were found in northern China than in southern China
Summary
Brugada syndrome (BrS) is an inheritable arrhythmogenic disease. The typical electrocardiographic manifestations include ST segment elevation ≥2 mm and T wave inversion on the right thoracic lead (V1–V3) of ECG. BrS is prone to polymorphic ventricular tachycardia, ventricular fibrillation, and sudden cardiac death while the heart structure is normal [1, 2]. 23 genes have been confirmed to be related to BrS [5,6,7], including gene mutations/variations that lead to ion channel dysfunction such as sodium, calcium, and potassium ions. About 30–35% of BrS patients were identified with pathogenic mutant genes, while SCN5A mutations/variations encoding the Nav1.5 α-subunit of the cardiac sodium channel accounted for 20 to 30% [5, 8,9,10]. The recommended treatment for BrS is ICD implantation and medication (quinidine, isoproterenol, etc.); therapeutic effect is unsatisfactory
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