title: A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy.
abstract: BACKGROUND
  Calstabins 1 and 2 bind to Ryanodine receptors regulating muscle excitation-contraction coupling. Mutations in Ryanodine receptors affecting their interaction with calstabins lead to different cardiac pathologies. Animal studies suggest the involvement of calstabins with dilated cardiomyopathy.
  
  
  RESULTS
  We tested the hypothesis that calstabins mutations may cause dilated cardiomyopathy in humans screening 186 patients with idiopathic dilated cardiomyopathy for genetic alterations in calstabins 1 and 2 genes (FKBP12 and FKBP12.6). No missense variant was found. Five no-coding variations were found but not related to the disease.
  
  
  CONCLUSIONS
  These data corroborate other studies suggesting that mutations in FKBP12 and FKBP12.6 genes are not commonly related to cardiac diseases.
authors.affiliation: Laboratory of Genetic and Molecular Cardiology, Heart Institute, University of Sao Paulo Medical School, Brazil.
authors.forename: Diogo G
authors.initials: DG
authors.lastname: Biagi
authors.forename: José G
authors.initials: JG
authors.lastname: Mill
authors.forename: Alfredo J
authors.initials: AJ
authors.lastname: Mansur
authors.forename: José E
authors.initials: JE
authors.lastname: Krieger
authors.forename: Alexandre C
authors.initials: AC
authors.lastname: Pereira
mesh_terms: D000328:Adult; D000483:Alleles; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D022021:Tacrolimus Binding Proteins / Q000235:genetics*
chemical_list: C550432:FKBP1A protein, human; D022021:Tacrolimus Binding Proteins; C403484:tacrolimus binding protein 1B