title: No variants in the cardiac actin gene in Finnish patients with dilated or hypertrophic cardiomyopathy.
abstract: BACKGROUND
  Dilated and hypertrophic cardiomyopathies are primary myocardial diseases that cause considerable morbidity and mortality. Although these cardiomyopathies are clinically heterogeneous, genetic factors play an important role in their etiology and pathogenesis. The defects in the cardiac actin (ACTC) gene can cause both cardiomyopathies. The aim of our study was to screen for variants in the ACTC gene in patients with dilated or hypertrophic cardiomyopathy from Eastern Finland.
  
  
  METHODS
  Altogether, 32 patients with dilated and 40 patients with hypertrophic cardiomyopathy were included in the study. Commonly approved diagnostic criteria were applied, and secondary cardiomyopathies were carefully excluded. All 6 exons of the ACTC gene were amplified with polymerase chain reaction and screened for variants with single-strand conformation polymorphism analysis.
  
  
  CONCLUSIONS
  We did not find any new or previously reported variants. Our results indicate that defects in the ACTC gene do not explain dilated cardiomyopathy or hypertrophic cardiomyopathy in subjects from Eastern Finland and confirm earlier results that the ACTC gene does not play an important role in the genetics of dilated or hypertrophic cardiomyopathies.
authors.affiliation: Department of Medicine, University of Kuopio, Finland.
authors.forename: Satu
authors.initials: S
authors.lastname: Kärkkäinen
authors.forename: Keijo
authors.initials: K
authors.lastname: Peuhkurinen
authors.forename: Pertti
authors.initials: P
authors.lastname: Jääskeläinen
authors.forename: Raija
authors.initials: R
authors.lastname: Miettinen
authors.forename: Päivi
authors.initials: P
authors.lastname: Kärkkäinen
authors.forename: Johanna
authors.initials: J
authors.lastname: Kuusisto
authors.forename: Markku
authors.initials: M
authors.lastname: Laakso
mesh_terms: D000199:Actins / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D005260:Female; D005387:Finland; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008875:Middle Aged; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D000199:Actins