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 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. METHODS: In 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. RESULTS: All patients and healthy peoples had wild type genotype for both locations and even no heterozygous was detected. CONCLUSION: Despite 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.&nbsp;</p

Downregulation of long noncoding RNA B4GALT1-AS1 is associated with breast cancer development

Abstract The misregulation of long non-coding RNAs (lncRNAs) is related to the progressive evolution of various human cancers, such as Breast cancer (BC). The role of lncRNA B4GALT1-AS1 has been investigated in some human cancers. Therefore, studying B4GALT1-AS1 expression was aimed for the first time in the tumor and marginal tissues of BC in this study. The cancer genome atlas (TCGA) database was utilized to evaluate the relative expression of B4GALT1-AS1 in BC and other cancers. RNA was extracted from twenty-eight paired BC and marginal tissues, and cDNA was synthesized. The quantitative expression level of B4GALT1-AS1 was evaluated using real-time PCR. The bioinformatics analyses were performed to identify co-expression genes and related pathways. B4GALT1-AS1 was significantly downregulated in BC specimens compared to tumor marginal samples. The TCGA data analysis confirmed the downregulation of B4GALT1-AS1 in BC. The bioinformatics analysis discovered the correlation between 700 genes and B4GALT1-AS1 and identified GNAI1 as the high degree gene which was positively correlated with B4GALT1-AS1 expression. It seems B4GALT1-AS1 provides its function, at least partly, in association with one of the hippo pathway components, YAP, in other cancers. This protein has the opposite role in BC and its loss of function can result in poor survival in BC. Further research is needed to investigate the interaction between B4GALT1‐AS1 and YAP in various subtypes of BC

Investigating Quantitative analysis of the gene expression of calcium/calmodulin-dependent protein kinase IV by the effect of Olibanum alcoholic extract in PC12 cell line

Background & Objective: Long-term memory depends on protein synthesis. The product of Camkiv gene promotes memory via activating its proteins. The treatment of laboratory animals by Olibanum leads to memory improvement and the recovery of Alzheimer. Therefore, the aim of this study is the evaluation of Olibanum ethanolic extract on the Camkiv expression in PC12 cells. Materials & Methods: Olibanum toxicity on the cell viability was investigated by MTT test. Cells were treated with concentrations 10,25,40,55,70 and 85 μg/ml of extract in time intervals 12,24,48 and 72 hours and their absorption rate was measured. Then, cells were treated by concentrations 2 and 20 μg/ml of extract in mentioned times. Extracted RNA was converted into cDNA and real-time PCR performed. Results: Cell death was raised by increasing time and concentration of extract treatment. IC50 values were obtained as 71.01, 52.95, 21.05 and 13.85 μg/ml in 12, 24, 48 and 72 hours of treatment, respectively. Besides, concentrations 2 and 20 μg/ml significantly increased Camkiv expression following 24 hour treatment. The maximum expression of Camkiv was observed in 48 hour treatment. The effect of Olibanum on gene upregulation was stable until 72 hours. Conclusion: The Olibanum ethanolic extract can remarkably upregulate Camkiv expression for a long time. These results are consistent with the previous studies indicating the effect of Olibanum on upregulation of Bdnf, Camkiv‌-downstream gene. However, regarding the existence of the two-direction pathway in the expression regulation of Bdnf and Camkiv‌, comprehensive studies are required to determine exact mechanism of Olibanum function in the brain