A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy

J Negat Results Biomed. 2012 Jan 11;11:4. doi: 10.1186/1477-5751-11-4.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Cardiomyopathy, Dilated / genetics*
  • Cohort Studies
  • Female
  • Genetic Testing*
  • Humans
  • Male
  • Mutation / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Tacrolimus Binding Proteins / genetics*


  • FKBP1A protein, human
  • Tacrolimus Binding Proteins
  • tacrolimus binding protein 1B