آتوسا مرادزادگان

Charcot-Marie-Tooth disease is a group of genetically heterogeneous inherited disorders characterized by progressive sensory-motor or motor neuropathy, which often leading to leg abnormalities. The purpose of this study is to identify possible genes and mutations involved in bone genetic disorders, as well as to find new mutations that cause this disease, which can be used as background information and help to develop panels designed to diagnose this disorder.

After collecting the peripheral blood of the patients and other participants in the study, the DNA material was purified by the salting out method and sequenced with the Illumina 100X device. The standard Sanger method was used to confirm the variant.

IIn this study, two families from Khuzestan province were investigated. In the patient of the first family, NM_002180: exon3: c.449+1G>T mutation was detected, which was homozygous in the patient and heterozygous in his parents. This variant has been reported before, but it is a scarce variant that is not routinely checked. The mutation NM_002180: exon5: c.548A>C was detected in the second family.

By conducting more studies on a large number of families, it is possible to understand the frequency and type of mutations of genes involved in Charcot-Marie-Tooth disease in Iran and then consider the design of a special panel for this disease, which is a great help in diagnosing and preventing the disease. It will prevent the occurrence of new cases in families and improve the health of society.

Stomach cancer is one of the most common malignancies worldwide, which leads to high mortality. The HMGA (high mobility group) family consists of chromatin structures that regulate proteins and play an meaningful role in tumorigenesis. This study was conducted to investigate the expression changes of these proteins in the patient population of Khuzestan, Iran.

In this survey, 60 tissue samples, including 30 gastric cancer tumor samples and 30 non-tumor samples (tumor margins), were prepared from the tumor tissue bank of Imam Khomeini Hospital (RA) in Ahvaz. After extracting RNA and evaluating its quantity and quality using a nanodrop device and agarose gel electrophoresis, the expression of HMGA-1 and HMGA-2 genes was assessed with a Real-time PCR technique. Statistical analysis was performed using t-test and ANOVA statistical methods.

The results showed that the relative expression of the HMGA-1 gene in tumor samples compared to non-tumor samples increased significantly by 17 times (P = 0.0001). Similarly, HMGA-2 gene expression in tumor samples significantly increased 15 times compared to ordinary samples (P = 0.0038).

This study points to the potential role of HMGA-1 and HMGA-2 in the development of gastric cancer in medical tumor samples in Khuzestan province, Iran. These findings align with previous research highlighting the roles of HMGA in various cancers, consistent with their potential role in tumorigenesis.

Pomegranate peel extract (PPE) exhibits biological activities with potential therapeutic applications. In this research, the antioxidant properties of the combination of atorvastatin and PPE, and the effect of this combination on the regulation of inflammatory factors and the gene pathway of glucose transport regulation (GLUT4) in tissue fibroblast cells (3T3-L1).

This research was done in a descriptive-analytical way. The percentage of cell survival after treatment with suitable concentrations of aqueous extract of pomegranate peel (AEPP) and atorvastatin drug was obtained. The amount of inflammatory cytokines IL-1, IL-6, and TNF-α in the supernatant solution of treated cells was measured using the ELISA method. Then the antioxidant activity and GLUT4 expression were measured using real-time PCR.

The highest antioxidant capacity is related to the combination of AEPP with atorvastatin. Also, the level of IL-1, TGF-B, and IL-6 cytokines increased. Furthermore, atorvastatin significantly increased the level of GLUT4 in adipocytes compared to the combination of atorvastatin and AEPP concentration, as well as AEPP alone.

The results showed that the combined use of AEPP and Atorvastatin can improve the efficiency of antioxidant pathways in the cell and significantly reduce the level of reactive oxygen. In addition, atorvastatin has a greater effect on regulating the function of inflammatory factors and the adipose glucose transporter 4 (GLUT4) regulatory gene pathway than the combination of atorvastatin and AEPP concentrations. However, more studies are needed in this area.

Doxorubicin (DOX), an anthracycline antibiotic, is one of the most effective anticancer agents used to treat breast cancer. Multidrug resistance is a major problem in the treatment of breast cancer, and researchers have tried to find an efficient strategy to overcome it. In this study, the synergistic anticancer effects of resveratrol (RSV) and DOX on human breast cancer cell lines (MCF-7) were investigated.

This research was conducted in 2021-2022 in Afra Laboratory (Tehran, Iran). MCF-7 breast epithelial cells were treated with concentrations of 12.5, 25, 50, 100, and 200 μg/ml RSV for 24, 48, and 72 h, and then the wells containing the cells of this group were treated with different doses of DOX (0.25, 0.5, 2.5, 1, and 5 μg/ml for 24, 48, and 72 h). Afterward, the survival rate of the cell was evaluated using MTT assay and flow cytometry methods.

The results showed that the effect of resveratrol was less than 50% after 24 hours, indicating the effective role of time. In general, the antioxidant property of resveratrol decreased with an increase in concentration, so that the highest percentage of radical inhibition was recorded at a concentration of 25 μg/ml. The percentage of inhibition by DOX was also higher than the inhibition by RSV. However, for both samples, the percentage of radical inhibition decreased with increasing concentration.

Resveratrol treatment increased the cytotoxic activity of DOX against breast cancer cell growth when administered concurrently or 24 h before DOX. These results suggested that treatment with a combination of RSV and DOX might be a useful strategy to enhance the efficacy of DOX by promoting the intracellular accumulation of DOX and reducing multidrug resistance in human breast cancer cells.

Lysosomal storage diseases (LSDs) are a group of metabolic diseases that are caused by mutations in lysosomal enzymes and lead to the accumulation of lysosomal substrates. Gaucher's disease and Niemann-Pick are two autosomal recessive lysosomal disorders caused by mutations in the beta-glucosidase gene and sphingomyelin phosphodiesterase 1 gene, respectively. A powerful diagnostic tool based on Whole-Exome Sequencing (WES) technology paves the way for more appropriate genetic counseling by helping with faster diagnosis.

Whole-Exome sequencing was done using the WES method after sampling in a tube containing EDTA anticoagulant and DNA extraction in this research. After finding the candidate gene, in order to confirm the variant, the PCR method was used for amplification, and Chromas software was used for sequence reading.

The results of sequencing exon 8 of the GBA gene in the first family patient indicated the known homozygous mutation of Gaucher disease in the GBA gene: c.79C > T:p.I260S. The results of sequencing the exon 9 of the NPC1 gene in the patient of the second family indicate a homozygous mutation in the NPC1 gene: c.1350C>G.p.I450M, which is a new variant in Niemanpik patients.

The WES method can reduce the time to diagnose the pathogenic variants of lysosomal storage diseases (LSDs) by simultaneously evaluating several genes and helping to treat patients.

Typically 20-80% of changes in sports performance traits are related to genetic factors. To date, more than 200 genes related to sports performance have been identified. The VDR (Vitamin D receptor) gene can play an important role in cell proliferation, differentiation, and contraction process. The aim of this study is to investigate a variant of the VDR gene in athletes as a genetic marker in determining sports talent.

In this research, 100 professional athletes in 2 groups, men and women and 100 healthy non-athletes with normal BMI were included in the study as a control group. After obtaining informed consent, blood was drawn to determine the genotype of rs10735810 polymorphism or FokI locus by ARMS-PCR method. Data analysis was done with GraphPad Prism 6 software and the Chi-squared test.

The number of people with the F/F genotype in the athletes’ group was 23% and in the control group was 65%, as well as the people with the F/f genotype in the athletes’ group was 64% and in the control group was 20%. The number of people with the f/f genotype in two the athletes group was 13% and the control group was 15%. Also, no significant difference was observed from the comparison of genotypic frequency in the two groups of female and male athletes compared to each other.

This study showed that the effect of the f allele is only in the heterozygous state which indicates the gender-independent effect of this polymorphism in the population.

Sialic acid is a 9-carbon monosaccharide that is predominantly expressed by the central nervous system and is involved in many physiological and pathological events like cancer and autoimmune diseases. miR155-5p is one of the microRNAs playing an active role in hematopoietic, inflammatory, and immune related responses and in inflammatory responses its expression increases in glial cells. Therefore, the present study was performed to investigate the effect of sialic acid on altering the expression of miR-155-5p in glial cells to identify the signaling pathways involved in inflammation. Glial cells were treated with different concentrations of sialic acid and IC-50 cells were examined by MTT assay. Then cell RNA was extracted and cDNA synthesis was performed for real-time PCR. The results from data analysis show that miR-155-5p had higher rate of expression at different concentrations compared to the control state. Considering that sialic acid increases the expression of miR-155-5p gene and results in a weaker defense against inflammation, the significance of miR-155-5p in inflammation and the role of sialic acid in stimulating inflammation is brought to attention, and extensive study into the knowledge of these pathways could pave the way for further research on the therapeutic goals of neuro-inflammatory diseases.