E101K and M123V alpha-cardiac actin gene mutations are not associated with cardiomyopathy in Iranian population

Background: cardiomyopathies are myocardial disorders in which the heart muscle isstructurally and functionally abnormal. several mutations in sarcomere protein coding genesare responsible for different types of cardiomyopathies. actc1 is one of the main sarcomerecomponents in heart muscle. two mutations of e101k and m123v in this gene are shown to beassociated with cardiomyopathies.methods: in this case and control study, a sample of contains 30 hypertrophic cardiomyopathyand 100 dilated cardiomyopathy patients, as well as 130 healthy individuals were screened fortwo mutations of e101k and m123v. the genotypes of samples were determined in whole bloodgenomic dna by restriction fragment length polymorphism polymerase chain reaction (rflppcr)and mismatched-pcr-rlfp techniques.results: all patients and healthy peoples had wild type genotype for both locations and evenno heterozygous was detected.conclusion: despite previous reports, no association was observed between both mutationswith cardiomyopathy. our results indicated that two mutations of e101k and m123v of actc1gene may are not associated with cardiomyopathy in iranian population.