Three Novel Mutations in Iranian Patients with Tay-Sachs Disease

ABSTRACT Background: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in an Iranian population. Methods: In this study, we examined 31 patients for TSD-causing mutations using PCR, followed by restriction enzyme digestion. Results: Molecular genetics analysis of DNA from 23 patients of TSD revealed mutations that has been previously reported, including four-base duplications c.1274_1277dupTATC in exon 11 and IVS2+1G>A, deletion TTAGGCAAGGGC in exon 10 as well as a few novel mutations, including C331G, which altered Gln>Glu in HEXB, A>G, T>C, and p.R510X in exon 14, which predicted a termination codon or nonsense mutation. Conclusion: In conclusion, with the discovery of these novel mutations, the genotypic spectrum of Iranian patients with TSD disease has been extended and could facilitate definition of disease-related mutations

Three Novel Mutations in Iranian Patients with Tay-Sachs Disease

ABSTRACT Background: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in an Iranian population. Methods: In this study, we examined 31 patients for TSD-causing mutations using PCR, followed by restriction enzyme digestion. Results: Molecular genetics analysis of DNA from 23 patients of TSD revealed mutations that has been previously reported, including four-base duplications c.1274_1277dupTATC in exon 11 and IVS2+1G>A, deletion TTAGGCAAGGGC in exon 10 as well as a few novel mutations, including C331G, which altered Gln>Glu in HEXB, A>G, T>C, and p.R510X in exon 14, which predicted a termination codon or nonsense mutation. Conclusion: In conclusion, with the discovery of these novel mutations, the genotypic spectrum of Iranian patients with TSD disease has been extended and could facilitate definition of disease-related mutations

Corrosion Inhibition on Mild Steel by Phosphonium Salts in 1M HNO3 Aqueous Medium

The corrosion inhibition on mild steel by phosphonium salts in 1 M HNO3 medium has been investigated by weight loss and polarization techniques. The result revealed that these derivatives are excellent inhibitors. Potentiostatic polarization, impedance and electrochemical noise studies showed mixed type inhibitors. Ellipsometer, quantum chemical and FTIR results indicated Phosphonium bromide derivatives exhibit excellent corrosion protective thin layer performance

The Relationship Between Personality Traits, Stress and Job Satisfaction of Employees of Iran Telecom Companies

Background & Objectives: Job satisfaction is affected by several factors including personality characteristics and job stress. This study aimed to investigate the relationship between personality traits, job satisfaction, and stress-related. Materials and Methods: This analytical study was performed among the telecommunications industry workers. 254 persons were randomly selected as the population of the study . Eysenck Personality Questionnaire and job satisfaction and stress questionnaires were applied to gather the required data. The collected data were analyzed using SPSS statistical software. Results: There was an inverse relationship between job satisfaction and job stress. The results of job stress questionnaires showed that 176, 37, and 8 employees were under high, moderate, and low stress, respectively. Overall job satisfaction scores were 14.25 + 10.95. The relationship between job stress and scale E showed a significant positive correlation between two variables so that as the level of introspection increases, people will feel more jop stress. The two scale N and L have meaningful relationship with job satisfaction so that the more stable the character, the higher the job satisfaction . Conclusion: It can be concluded that in order for promoting the job satisfaction and reducing the job stress, self-confidence enhancing skills should be trained to the employees

The Effect of Exercise Dependence and Narcissism Components on Eating Disorders in Men Bodybuilders

Physical activity is considered a healthy behavior as lifestyle component that can prevent chronic disease and attributed to numerous psychological and physical benefits. The purpose of this study was to investigate the effect of exercise dependence and narcissism components on eating disorders in male bodybuilders.The study was a correlational study and the statistical population consisted of male bodybuilders in city clubs with more than one year of continuous training of at least three sessions a week. 250 male bodybuilders were selected by cluster sampling. The research tool consisted of three questionnaires: narcissistic personality, exercise dependency and eating disorders. For data analysis correlation and regression tests were performed by SPSS version 21 and p-value less than 0.05 was considered as significant. The results showed that addiction to exercise and narcissism and their components had a significant positive relationship with eating disorders (all P-values < 0.01). Regression models revealed that exercise dependence and narcissism were able to predict 46% of variance in eating disorder (p < 0.01). According to the data, nutritional behaviors can be promoted by improving narcissistic tendencies and dependency on exercis