title: [Genetic and molecular basis for sodium channel-mediated Brugada syndrome].
abstract: Brugada syndrome is a genetic disease that is characterized by abnormal electrocardiogram findings and an increased risk of sudden cardiac death. This syndrome is linked to mutations in the SCN5A gene in approximately 20% of Brugada syndrome probands. SCN5A encodes the α subunit of the cardiac sodium channel. Studies conducted over the past decade have identified 11 other Brugada syndrome susceptibility genes besides to SCN5A, pointing to genetic heterogeneity of the syndrome. Transmission of the disease shows an autosomal dominant inheritance pattern. This brief review focuses on a reported case of sodium channel-mediated Brugada syndrome, guiding the reader through the process of identification of the genetic variants responsible for the clinically-diagnosed syndrome, mutagenesis to clone SCN5A with and without the 2 variants identified and transfection of the 2 variants into TSA201 cells to determine the functional consequence of these genetic variants on sodium channel expression and function.
authors.affiliation: Departamento de Genética Molecular, Masonic Medical Research Laboratory, Utica, Nueva York, Estados Unidos. Electronic address: barajash@mmrl.edu.
authors.forename: Héctor
authors.initials: H
authors.lastname: Barajas-Martínez
authors.affiliation: Departamento de Genética Molecular, Masonic Medical Research Laboratory, Utica, Nueva York, Estados Unidos.
authors.forename: Dan
authors.initials: D
authors.lastname: Hu
authors.affiliation: Departamento de Genética Molecular, Masonic Medical Research Laboratory, Utica, Nueva York, Estados Unidos.
authors.forename: Charles
authors.initials: C
authors.lastname: Antzelevitch
mesh_terms: D053840:Brugada Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D010375:Pedigree
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human
keywords: Brugada syndrome; Canales de sodio; Genetics; Genética; SCN5A; Sodium channels; Síndrome de Brugada