title: Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy.
abstract: OBJECTIVE
  Mutations in ion channels genes are potential cause of cardiomyopathy. The SCN5A gene (sodium channel, voltage gated, type V alpha subunit gene; 3p21) belongs to the family of cardiac sodium channel genes. Mutations in SCN5A gene lead to decreased Na+ current and ion unbalance. The SCN5A gene mutations are found in approximately 2% of patients with dilated cardiomyopathy (DCM), and they may be potential phenotype modifiers in hypertrophic cardiomyopathy (HCM). The role of SCN5A gene mutations in cardiomyopathy is not fully elucidated.
  
  
  METHODS
  Three selected exons (12, 20, and 21) of the SCN5A gene in the cohort of 58 East Slovak patients with dilated and HCM were analyzed by the Sanger sequencing method in order to detect etiopathogenic mutations associated with dilated and HCM.
  
  
  RESULTS
  The mutation screening of three selected exons of SCN5A gene in the cohort of 27 DCM, 12 HCM patients, and 16 controls identified 10 missense genetic variants. Three of them (T1247I, A1260D, and G1262S), all in exon 21 of the SCN5A gene, were potentially damaging and disease-causing variants.
  
  
  CONCLUSIONS
  Data from this study demonstrate that SCN5A gene variants have important role in the etiopathogenesis of dilated and HCM.
authors.affiliation: Department of Biology, Faculty of Humanities and Natural Sciences, University of Prešov, Prešov, Slovak Republic.
authors.forename: Mariana
authors.initials: M
authors.lastname: Priganc
authors.affiliation: Department of Biology, Faculty of Humanities and Natural Sciences, University of Prešov, Prešov, Slovak Republic.
authors.forename: Michaela
authors.initials: M
authors.lastname: Zigová
authors.affiliation: Department of Biology, Faculty of Humanities and Natural Sciences, University of Prešov, Prešov, Slovak Republic.
authors.forename: Iveta
authors.initials: I
authors.lastname: Boroňová
authors.affiliation: Department of Biology, Faculty of Humanities and Natural Sciences, University of Prešov, Prešov, Slovak Republic.
authors.forename: Jarmila
authors.initials: J
authors.lastname: Bernasovská
authors.affiliation: Department of Biology, Faculty of Humanities and Natural Sciences, University of Prešov, Prešov, Slovak Republic.
authors.forename: Dana
authors.initials: D
authors.lastname: Dojčáková
authors.affiliation: Department of Biology, Faculty of Humanities and Natural Sciences, University of Prešov, Prešov, Slovak Republic.
authors.forename: Viktória
authors.initials: V
authors.lastname: Szabadosová
authors.affiliation: Department of Biology, Faculty of Humanities and Natural Sciences, University of Prešov, Prešov, Slovak Republic.
authors.forename: Marta
authors.initials: M
authors.lastname: Mydlárová Blaščáková
authors.affiliation: Department of Biology, Faculty of Humanities and Natural Sciences, University of Prešov, Prešov, Slovak Republic.
authors.forename: Iveta
authors.initials: I
authors.lastname: Tóthová
authors.affiliation: Cardiocentre, Faculty Hospital of J.A. Rayman, Prešov, Slovak Republic.|Department of Urgent Health Care, Faculty of Health Care, University of Prešov, Prešov, Slovak Republic.
authors.forename: Ján
authors.initials: J
authors.lastname: Kmec
authors.affiliation: Center of Languages and Cultures of National Minorities, University of Prešov, Prešov, Slovak Republic.
authors.forename: Ivan
authors.initials: I
authors.lastname: Bernasovský
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution / Q000235:genetics; D001483:Base Sequence; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D017422:Sequence Analysis, DNA; D000069456:Silent Mutation / Q000235:genetics; D018154:Slovakia; D012964:Sodium / Q000378:metabolism; D055815:Young Adult
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D012964:Sodium
keywords: East Slovak patients; SCN5A gene; cardiomyopathy; potentially damaging variants