ArticleARYA atherosclerosis2015
E101K and M123V alpha-cardiac actin gene mutations are not associated with cardiomyopathy in Iranian population.
Article in ARYA atherosclerosis, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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5 authors at 2 institutions in 1 country.
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Abstract
backgroundCardiomyopathies are myocardial disorders in which the heart muscle is structurally and functionally abnormal. Several mutations in sarcomere protein coding genes are responsible for different types of cardiomyopathies. ACTC1 is one of the main sarcomere components in heart muscle. Two mutations of E101K and M123V in this gene are shown to be associated with cardiomyopathies.
methodsIn this case and control study, a sample of contains 30 hypertrophic cardiomyopathy and 100 dilated cardiomyopathy patients, as well as 130 healthy individuals were screened for two mutations of E101K and M123V. The genotypes of samples were determined in whole blood genomic DNA by restriction fragment length polymorphism polymerase chain reaction (RFLP-PCR) and mismatched-PCR-RLFP techniques.
resultsAll patients and healthy peoples had wild type genotype for both locations and even no heterozygous was detected.
conclusionDespite previous reports, no association was observed between both mutations with cardiomyopathy. Our results indicated that two mutations of E101K and M123V of ACTC1 gene may are not associated with cardiomyopathy in Iranian population.
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26715934PMC4680077W2231071586What OpenQuestion holds
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