Understanding the molecular mechanisms underlying Alzheimer’s disease (AD) is necessary for the diagnosis and treatment of this neurodegenerative disorder. It is therefore important to detect the most important genes and miRNAs, which are associated with molecular events, and studying their interactions for recognition of AD mechanisms. Here we focus on the genes and miRNAs expression profile, which we have detected the miRNA target genes involved in AD. These are the most quintessential to find the most important miRNA, to target genes and their important pathways. A total of 179 differentially expressed miRNAs (DEmiRs) and 1404 differentially expressed genes (DEGs) were obtained from a comprehensive meta-analysis. Also, regions specific genes with their molecular function in AD have been demonstrated. We then focused on miRNAs which regulated most genes in AD, alongside we analyzed their pathways. The miRNA-30a-5p and miRNA-335 elicited a major function in AD after analyzing the regulatory network, we showed they were the most regulatory miRNAs in the AD. In conclusion, we demonstrated the most important genes, miRNAs, miRNA-mRNA interactions and their related pathways in AD using Bioinformatics methods. Accordingly, our defined genes and miRNAs could be used for future molecular studies in the context of AD.

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Aim: Modifications of oxytocin (OT) concentration and OT receptor (OXTR) expression level have different effects on breast cancer-derived cells. This study was conducted to evaluate OT variation in breast cancer patients and to evaluate OXTR expression changes in breast cancer tissues. Methods: The plasma concentrations of OT in both breast cancer patients and healthy individuals’ samples were assessed. OXTR variations were then assessed in both cancerous and noncancerous breast tissues. Results: OT had an increase in breast cancer patients and expression of OXTR in contralateral breast was more than cancerous tissues. Conclusion: Despite the high levels of OT concentration in breast cancer patients, it seems that a lower expression of OXTR in cancerous tissues can be effective in the breast cancer progression.

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Glucose 6-phosphate dehydrogenase is a highly polymorphic enzyme encoded by a human X-linked gene (Xq2.8). This enzyme catalyses the first step of pentose phosphate pathway, that converts glucose 6-phosphate to 6-phosphogluconate with production of NADPH2. G6PD deficiency is the most common human metabolic inborn error affecting more than 400 million people world wide. The main clinical manifestations are acute hemolytic anemia and jaundice, triggered by infection or ingestion of Fava beans or oxidative drugs. A predominant variant of G6PD named Mediterranean is often associated with favism. This has been evident in several countries including Northern coastal provinces of Iran. Other current variants are Chatham and Cosenza. Molecular identification of the most prevalent mutations in G6PD gene was carried out in 71 males and females with G6PD deficiency. They were from Iranian Northern province of Golestan. DNA was extracted from blood samples and analyzed for known G6PD mutation by PCR and restriction fragment length polymorphisms (RFLP) technique. Adapting this method, revealed that Mediterranean mutation at nt 563(C-->T) is predominant in the area (69%) and 26.7% of patients have Chatham mutation at nt 1003(G-->A). Findings indicate a higher prevalence of these mutations, in Golestan compared to Mazandaran (66.2% Mediterranean and 19% Chatham mutation) and Gilan (86.4% Mediterranean and 9.71% Chatham mutations). Cosenza mutation at nt 1376(G-->C), by PCR-RFLP technique was not found among other 3 samples (4.3%). The similarity of these results with mutations in Italy indicates probable existence of a common ancestral origin in the observed populations.

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Most studies have revealed the effects of caveolins in cancer inhibition. However, due to a lack of reports about their new transcripts, their presence and their effects on different cancers are unclear. This study was conducted to evaluate the cavolin-2 (cav-2) transcripts expression changes in tumoral and corresponding tissues and in contralateral breast, to investigate their variation associated with the variation of caveolin-1 (cav-1) expression in breast cancer. There were 40 breast-derived tumoral, corresponding, and contralateral tissues obtained from the patients with breast cancer. The RNA and proteins were extracted from these samples. So, cav-1 and cav-2 transcripts' variation were assessed in whole tumoral, corresponding, and contralateral breast. Also, their expression modifications were evaluated via the Western blotting technique. The results derived from this study verified the presence of transcript III of cav-2 for the first time, which was reported only in the gene bank, but we could not detect and validate any protein associated with these transcripts. Also, the decreasing trend of cav-1 and the cav-2 (transcripts I and II) were observed in tumoral tissues compared to unaffected tissues especially in stages I and II. It seems that the descending expression levels of cav-1 and cav-2 (transcript I, II) besides the lasting expression of cav-2 (transcript III) are associated with the incidence and promotion of breast cancer, especially in the initial stages of breast cancer. So, this may show a potential in determining the patients who can undergo the prophylactic mastectomy. Moreover, the results of the study demonstrated that transcript III may be a candidate as a non-coding RNA.

Alpha-1 antitrypsin (AAT) is a member of the serine protease inhibitors (serpins) family. Hepatocytes are the major source of synthesis and secretion of AAT into the blood stream. However, macrophages of the lungs also take part in this process to a lower extent. 1 Alpha-1 antitrypsin diffuses into tissues where it targets neutrophil elastase, a powerful protease capable of cleaving elastic fibers of alveolar walls and other structural proteins. 2 Being the most abundant human serum protease inhibitor, AAT is encoded by a single gene of 12.2 kb, which is located on the long arm of chromosome 14 (14q31-32.2). The protein is highly polymorphic, and a number of alleles have so far been identified in this regard. These alleles are categorized into the following 4 groups: 1) a normal allele, whose product is AAT with normal function and serum levels ranging from 150 up to 350 mg/dL -1 ; 2) deficient alleles associated with serum AAT levels less than 35% of those of normal subjects, which may or may not function normally; 3) null alleles displaying no detectable serum AAT levels; and 4) dysfunctional alleles. The last group encodes AAT present at normal levels that is not functional. 3,4 Mutations in the AAT gene have shown to be associated with a number of diseases, including renal, arthritis, and malignancies. However, the major association has so far been proposed for lung and liver diseases. 5,6 Proteolytic enzymes play significant roles in malignancies, invasion, and metastasis, which require degradation of the basement membrane, stimulation of angiogenesis, and migration. 7 Studies have indicated that serum levels of AAT increase in malignant diseases, such as gastrointestinal tumors, 8 prostate tumors, 9 brain tumors, 10 biliary tract cancer, 11 pancreatic adenocarcinoma, 12 breast tumors, 13 and esophageal cancer. 14 A significant correlation between serum AAT levels and cancer stage has also been proposed. 15,16 A change in the levels of a particular protease relative to its inhibitor accounts for the increased potential of tumor formation. 16 Esophageal cancer ranks among the top 10 most frequent cancers, characterized by poor prognosis and a 5-year survival rate of less than 10%. Despite many efforts and investigations, the mechanism underlying the development of esophageal Abstract Background: Alpha-1 antitrypsin (AAT) deficiency is an inherited disease characterized by reduced levels of AAT in the serum. The 2 common genotypes of AAT deficiency are type Z (PiZ) and type S (PiS), which are associated with several malignancies.