TMPRSS2 As an Influential Human Gene for COVID-19

: In December 2019, the new virus, COVID-19, emerged and led to a pandemic respiratory acute disease. Almost all countries have experienced different rates of morbidity and mortality. These differences can be attributed to factors such as a diagnostic test capacity for COVID-19 and the health system efficiency. Besides the differences between countries related to the COVID-19 management, different patients represent a diverse range of clinical symptoms, from outpatient to patients admitted to the intensive care unit (ICU) due to the severity of symptoms. To gain deeper insights into such disparities in the severity of COVID-19 clinical presentations, epidemiological studies have reported risk factors such as old age, male sex, underlying chronic diseases such as diabetes, inflammatory and cardiovascular diseases, which have a bearing on susceptibility to COVID-19. In addition to these risk factors, the molecular mechanism involved in the virus entry process has been under investigation. Apart from a well-known protein called ACE2 (angiotensin-converting enzyme 2), which plays the receptor role for COVID-19, another essential protein in this pathway is TMPRSS2 (transmembrane protease, serine 2). This protease has a crucial role in effective membrane integration between the virus and the target cell. This process can affect the severity of the infection and the mortality rate of the disease. Thus, it seems that understanding the role of TMPRSS2 in COVID-19 infection can help better management by designing TMPRSS2 inhibitors drugs. Given the variants of the TMPRSS2 gene, which are associated with the severity of symptoms, people exposed to severe forms of this disease can be identified before the deterioration of the disease to adopt appropriate therapeutic approaches. Therefore, this study focused on the different levels of the TMPRSS2 interactions with COVID-19 virus and disease severity.

Investigating Differential Expression of mTOR1/UCA1 in Tumor Samples of Colorectal Cancer Compared with Tumor Marginal Samples

Background: Colorectal cancer (CRC) is the second and third most common cancer in men and women respectively, and the fourth cause of cancer death of individuals. Mutations in specific genes can lead to colorectal cancer. UCA1 is one of the oncogenic genes that have been shown to stimulate cell proliferation. mTOR1 is another gene that leads to the growth of cancer cells through anabolic processes and autophagy inhibition. Objectives: In this study, we evaluate the expression of these two genes in different phases of CRC, that helps the early detection of colorectal cancer which can increase the survival rate. Methods: First, we collected 25 colorectal cancer tumor tissues and 25 adjacent normal tissues as a control group. Then, RNA was extracted from tissue samples and cDNA synthesized. The UCA1 and mTOR1 expression was evaluated in CRC tissues compared to adjacent normal tissues by Real Time PCR. Results: Our results showed that the UCA1 and mTOR1 expression in the tumor tissues was significantly higher than in the adjacent normal tissues (P < 0.05). There was also a significant difference in Lynph inv and Vescu inv with mTOR1 expression (P < 0.05). Conclusions: Our results showed that UCA1/mTOR1 may be important genes involved in colorectal cancer. mTOR1 was also identified as one of the possible genes in metastasis of colorectal cancer. Thus, UCA1 and mTOR1 can probably be considered as biomarkers in CRC therapy and diagnosis.

Review of Prenatal Aneuploidy Screening Uptake Rate and Trends in Iran, and Developed Countries

: Prenatal screening of different anomalies including chromosomal aneuploidies have become a part of routine pregnancy care in most countries around the world. These tests can help pregnant mothers to have informed decisions. In this study we gathered relevant scientific and governmental/official data about uptake rate of these screenings in different developed countries and Iran. We have tried to use the latest articles and reports, and also consider to the global trend of screening and abortion policies in developed countries. Also, some pitfalls when comparing prenatal screening of different countries will be explained. These data can help to have a better insight about Iran’s prenatal screening status when compared with developed countries to improve public health policies.

Assessment of the Relationship Between ERBB4 rs13393577 Polymorphism and Breast Cancer Susceptibility in Iranian Population

Background: Studies have shown that the polymorphism of genes involved in breast cancer in combination with environmental factors has an important role in the progression of breast cancer. Objectives: In this study, the association between polymorphism of the ERBB4 gene with breast cancer was investigated. Methods: In the present study, 110 patients with breast cancer and 110 healthy individuals were selected as controls. DNA extraction was performed on patients’ samples. The tetra-ARMS-PCR method was used to study rs13393577 polymorphism. Finally, statistical analysis was performed using SPSS software using t-test. Results: The results of the study in the patients' group showed that the frequencies of TT, CT, and CC genotypes were 73, 15, and 1.8%, and allelic frequency in this group for T and C alleles were 95 and 5%, respectively. In addition, the results of the study in the control group showed that the frequencies of TT, CT, and CC genotypes were 86, 11, and 0.9%, respectively. The allelic frequencies in the control group for the T and C alleles were 97 and 3%, respectively. In addition, the risk ratio and allelic reliability were obtained for T allele was OR: 3.06: and CI = 0.31 – 29.94 and for C allele was OR: 0.32: and CI: 0.03 - 3.19, respectively. Finally, statistical analysis showed that no significant difference was observed between the two groups (P > 0.05). Conclusions: The results of the present study showed that rs13393577 polymorphism in the EGFR gene (ERBB4) is not a genetic predisposing factor for breast cancer.

Spectrum of Mutations of Familial Mediterranean Fever Gene by Whole Sequencing Method in Iranian Patients

Background: Familial Mediterranean fever (FMF) is the most common type of periodic fever syndrome. The disease is most prevalent in the western Mediterranean population, but today it is widespread in the world due to the large ethnic migrations of Turks, Jews, Arabs and Armenians. The MEFV gene is the only gene known to be associated with the disease. Objectives: The aim of this study was to characterize pathogenic mutations in patients with typical FMF symptoms by sequencing the entire MEFV gene. Methods: This is a descriptive-analytical study that was performed during ten years from 2009 to 2019. On 252 patients after clinical diagnosis based on existing criteria to determine mutations referred to Tehran Medical Genetics Laboratory and the whole sequencing method for MEFV gene was used to determine mutations. Results: Out of 252 patients, 143 (56.7%) had pathogenic variants, and 109 (43.3%) had no variants reported as pathogenic mutations. Variants were identified as fallow: (1) 8.7% as homozygous; (2) 22.2% as compound heterozygous; (3) 25.7% as heterozygous. The most common variants were M694V (c.2080A > G) and E148Q (c.442G > C). Conclusions: This study showed that the age of onset of the disease was in the first and second decades of life amongst our patients and the most common complaints of patients were periodic fever and abdominal pain. The most frequent allele was M694V (c.2080A > G) followed by E148Q (c.442G > C) allele.

Evaluation of Human Mesenchymal Stem Cells Differentiation to Neural Cells on Polycaprolactone Nanofiber Scaffolds

: Differentiation of human mesenchymal stem cells (hMSC) to neural cells on Nano-scaffolds is a promising method for the treatment of the damaged nervous system through bionanomaterial-cell transplantation. The hMSC’s multipotential features have been discovered in various tissue engineering researches. This investigation shows the in-vitro development and neural differentiation of hMSC in 3D and 2D environments. The 3D environment which used in this study is nanofibrous polycaprolactone (PCL). The differentiation potential of mesenchymal stem cells (MSCs) to neural cells, on the random polycaprolactone (PCL) nanofibrous scaffolds, and tissue plate was examined. Researches have proved that interaction of extracellular nanofibrous matrix with in-vivo cells, gives mechanical maintenance to the cells and plays a functional role in the control of cellular behaviour. Stem cells are developing as a fundamental tool in the evolution of tissue engineering and regenerative medication. PCL characterization was determined employing scanning electron microscopy (SEM). Agents like, retinoic acid, epidermal growth factor (EGF), fibroblast growth factor (FGF-2), and Ibmx, which they are neural inducing agents, added in DMDM/F12 to differentiate MSCs to neural cells. Reproduction of mesenchymal cells on PCL nanofibrous scaffolds and neural morphology revealed through a scanning electron microscope (SEM) and optical microscope outcomes. The differentiated mesenchymal cells on nanofibrous scaffolds express neural gene markers including; β- tubulin III and Map2 on the day of 14. Our investigation recommends the potential usage of differentiated neural cells from hMSCs on Nano-scaffolds toward the improvement of neural cells. This study conducted in 2011.

Preimplantation Genetic Diagnosis for Beta Thalassemia

Background: Beta thalassemia is an autosomal recessive genetic disease with the symptoms of severe anaemia, ineffective erythropoiesis and bone deformities. Preimplantation genetic diagnosis is a noninvasive clinical tool for couples who are at risk of affected pregnancy to have a healthy child. Objectives: Here we report a PGD test for a couple who were heterozygous for CD36/37(-T) mutation in HBB gene and had terminated one affected pregnancy. Methods: Haplotype analysis of 6 flanking STR markers as well as variant detection by cycle sequencing were included in our PGD test in order to investigate the status of the embryos reliably. Results: Three out of five embryos were transferable. Conclusions: One normal and one carrier embryo were transferred which resulted in the singleton pregnancy and the birth of a healthy girl.

MicroRNAs as Regulatory Elements of Mammalian Spermatogenesis

: In recent decades, infertility is becoming a public health issue. Male spermatogenesis failure has been considered a major contributory factor to infertility. Mammalian spermatogenesis is a well-defined process, requiring highly regulation processes in both transcriptional and the posttranscriptional levels. Discovery of microRNAs (miRNAs or miR) as essential class of gene expression regulators has provided new insights into a multitude of biological processes including spermatogenesis. In current review study, we first provide a short overview of spermatogenesis process, and then focus on recent studies that have elucidated the essential role of miRNAs in different steps of sperm production.