A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy
Copyright policy )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.
- UNIVERSIDADE DE SAO PAULO Brazil
- Universidade de São Paulo Brazil
- Universidade Federal do Espírito Santo Brazil
- Instituto do Coração - HCFMUSP Brazil
Medicine(all), Adult, Cardiomyopathy, Dilated, Male, Biochemistry, Genetics and Molecular Biology(all), Research, Polymorphism, Single Nucleotide, Cohort Studies, Tacrolimus Binding Proteins, Pharmacology, Toxicology and Pharmaceutics(all), Mutation, Humans, Female, Genetic Testing, Alleles
Medicine(all), Adult, Cardiomyopathy, Dilated, Male, Biochemistry, Genetics and Molecular Biology(all), Research, Polymorphism, Single Nucleotide, Cohort Studies, Tacrolimus Binding Proteins, Pharmacology, Toxicology and Pharmaceutics(all), Mutation, Humans, Female, Genetic Testing, Alleles
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