Abeer Ramadan

Objectives: In this study, we aimed to better understand the expression of pro-apoptotic Bad and Bax in the pathogenesis of systemic lupus erythematosus (SLE) and their relationship with the disease activity. Patients and methods: Between June 2019 and January 2021, a total of 60 female patients with SLE (median age 29 years; IQR, 25.0-32.0) and 60 age- and sex-matched healthy female controls (median age: 30 years; IQR, 24.0-32.0) were included. The Bax and Bad messenger ribonucleic acid (mRNA) expression was measured by real-time polymerase chain reaction. Results: The expression of Bax and Bad was significantly lower in SLE group than the control group. The median value of mRNA expression of Bax and Bad was 0.72 and 0.84, respectively versus 0.76 and 0.89 in the control group. The median value of (Bax*Bad)/β-actin index was 17.8 in the SLE group and 19.64 in the control group. The expression of both Bax, Bad and (Bax*Bad)/β-actin index had a good significant diagnostic utility (area under the curve [AUC]= 0.64, 0.70, and 0.65, respectively). The Bax mRNA expression showed a significant upregulation with disease flare-up. The efficacy of Bax mRNA expression in predicting SLE flare-up was good (AUC= 73%). In the regression model, the probability of flare-up reached 100%, with increasing Bax/β-actin as well, and the likelihood of flare-up increased 10,314 times with every unit increase of Bax/β-actin mRNA expression. Conclusion: Deregulation of the mRNA expression of Bax may have a role in the susceptibility to SLE and may be associated with disease flare. A better understanding of the expression of these pro-apoptotic molecules may carry a great potential for the development of specific effective therapies.

Purpose: Bronchial asthma is a common chronic respiratory disease in children with complex pathogenesis, characterized by airway hyper‐responsiveness, obstruction, mucus hyperproduction, and airway remodeling. Autophagy is important for cellular physiology, and the ATG5 rs510432 has recently been implicated in several fundamental characteristics of childhood asthma pathogenesis and may play a role in the disease progression. This study aims to assess the expression of ATG5 messenger RNA (mRNA) according to rs510432 polymorphism in asthmatic children and to evaluate their possible relation with the development of the disease.Methods: ATG5 mRNA expression and rs510432 polymorphism were measured using real‐time polymerase chain reaction in 57 asthmatic children patients and 46 healthy controls.Results: ATG5 level was significantly higher in asthmatic children than in controls and a significant increase in the frequency of TT and CC genotype of ATG5 rs510432 gene polymorphism was found in asthmatic patients when compared to control subjects (p < 0.001; and p = 0.01, respectively), and there was a statistically significant decrease in the frequency of CT genotype of ATG5 rs510432 gene polymorphism in asthmatic patients when compared to control subjects (p < 0.001).Conclusion: ATG5 rs510432 gene polymorphism plays an important role in childhood asthma pathogenesis.

Alzheimer’s disease is a genetically heterogeneous brain disease which is associated with a decrease in thinking capacity and changes in personality. Various gene polymorphisms could be associated with the occurrence of Alzheimer’s disease. Objectives: This study aimed at exploring the association of ABCA7 rs3764650, CLU rs11136000, and MS4A6A rs610932 genetic variants with AD in a sample of the Egyptian population. Methods: DNA extraction was done from peripheral blood. Genotyping was done using PCR followed by restriction fragment length polymorphism (RFLP) in 100 Alzheimer patients of age 60 years old or above and 100 cognitively normal controls. DNA sequencing was done for eight samples with different genotypes to confirm the results. Results: No significant difference was found in genotypic or allelic distribution of CLU rs11136000 between patients and controls. the frequency of CLU CC genotype among AD patients, was lower in Apo E 4 carriers compared to Apo E 4 non-carriers with a significant difference (p=0.003). No significant difference was found in genotypic or allelic distribution of ABCA7 rs3764650 and MS4A6A rs610932 between patients and controls. Conclusion: We concluded that AD not associated with Clustrin rs11136000, ABCA7 rs3764650 and MS4A6A rs610932 genes polymorphism.