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- W2990553352 abstract "SCN5A gene encoding human cardiac voltage-gated sodium channel α unit is responsible for Brugada syndrome, a disease characterized by ST segment elevation in ECG precordial lead of V_1-V_3 with or without right bundle-branch block, and in cases in which sudden death or syncope occurs, polymorphic ventricular tachycardia (VT) or ventricular fibrillation (VF) may be present. Up to date, more than 10 different mutations, all located in SCN5A gene, have been identified. To understand the association of SCN5A gene mutation with this potentially fatal disease in chinese population, we performed genetic screening in 4 Chinese Brugada syndrome families by way of polymerase chain reaction-single strand conformation polymorphism, and identified an aberrant band in the exon 8 of SCN5A gene in one of the 4 familes which was not present in a cohort of ore than 200 unrelated normal individuals. Direct sequence analysis revealed a G→C transition in the third nucleotide of codon 317 resulting in a substitution of lysine by asparagine (K317N) in extracellular linker between S5 and S6 segments in Domain I of the sodium channel protein. In spite of failure in performing biological expression observations of this mutation, we believe that K317N may affect the permeability of the cardiac sodium channel leading to a decrease of Na+ in-flow during the spike potential of action potential and thus leaving Ito (transient outward current) unopposed at the end of phase I. Family investigation found 10 carriers of this mutation in the total of 21 members in this family, and only 3 carriers had typical ECG pattern at rest, and 4 members who experienced syncope or sudden death all carried this mutation. Our study reveals for the first time that Chinese Brugada syndrome family is associated with SCN5A mutation that is passed down through autosomal dominant heredity, and that the phenotype is not always consistent with the genotype and the penetrance of this mutation is rather low. The findings of this study may provide better insight into the molecular mechanisms of this disease and may potentially facilitate the genetic diagnosis ad therapy of Brugada syndrome in Chinese." @default.
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- W2990553352 date "2002-02-01" @default.
- W2990553352 modified "2023-09-27" @default.
- W2990553352 title "A novel gene mutation of K317N in a Chinese Brugada syndrome family" @default.
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