فهرست مطالب

Journal of Human Genetics and Genomics
Volume:6 Issue: 2, Dec 2022

  • تاریخ انتشار: 1402/08/01
  • تعداد عناوین: 6
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  • Mehran Gholamin*, Mojtaba Jafarinia, Mohammad Kargar, Samaneh Talebi Page 1
    Background

    Esophageal carcinoma (ESCA) is one of the most common types of cancer. ESCA accounted for the sixth leading cause of cancer-related deaths globally. Most patients are diagnosed at late stages of ESCA, with distance metastasis or chemoresistance, which leads to a poor prognosis. Previous studies demonstrated lncRNA presentation and roles in ESCA cells and patients' tissue. It has been proposed that lncRNAs can be considered a new prognostic and diagnostic biomarker in ESCA. In this study, we comprehensively explored the interaction of lncRNAs with miRNAs and mRNAs of the TCGA database and proposed a novel promising biomarker with good diagnostic and prognostic values.

    Methods

    The public data of RNA-seq, miR-seq, and related clinical data were downloaded from the TCGA database. Differential expression analysis was conducted by “limma” in R. GO, and KEGG signaling pathways were used for enrichments. STRING database was used for PPI analysis. CE-network was constructed by the STAR database in R. Kaplan-Meier survival analysis (log-rank test), and ROC curve analysis was used to indicate the diagnostic and prognostic values of the biomarkers.

    Results

    Differentially expressed data illustrated that 45.8% of the total mRNAs in the data related to ESCA patients showed increased expression and 54.2% decreased expression. The GO and KEGG pathway analysis showed that the differentially expressed mRNAs were enriched in critical biological processes. Important protein-protein interaction hubs were identified. The ceRNA network data demonstrated critical lncRNAs essential in ESCA development, including TMEM16B-AS1, AC093010.3, SNHG3, and PVT1. The data revealed that the lncRNA WDFY3-AS2, AC108449.2, DLEU2, AC007128.1, and AP003356.1 are potential diagnostic and prognostic biomarkers in ESCA patients.

    Conclusion

    Altogether, this study demonstrates lncRNA, miRNA, and mRNA interaction and mentions regulatory networks which can be considered as a therapeutic option in ESCA. In addition, we proposed potential diagnostic and prognostic biomarkers for ESCA patients.

    Keywords: Esophageal carcinoma, Tumorigenesis, Long non-coding RNAs, MicroRNA
  • Bahareh Fazli, Fahimeh Baghbani-Arani*, Ehsan Nazemalhosseini Mojarad Page 2
    Background

     The onset of colorectal cancer requires the transformation of normal epithelial cells into neoplastic cells and eventually the growth of polyps and the progression to malignancy. The purpose of this study was to compare the expression of E-cadherin, β-catenin, and APC genes at the mRNA level and their relationship with the pathological features of colorectal polyps.

    methods

     The present descriptive-analytical study was conducted on 40 biopsy specimens collected from patients with colorectal polyps and 10 healthy tissue samples from the Department of Gastroenterology at Ayatollah Taleghani Educational Hospital in Tehran (Iran), subsequently recording their demographic and clinical characteristics. After RNA extraction and cDNA synthesis, the expression of E-cadherin, β-catenin, and APC genes was evaluated by real-time PCR. 

    Results

     According to the present findings, the APC gene expression level indicated a significant decrease in the types of adenomatous polyps, but no change was shown in hyperplastic polyps. In addition, the β-catenin gene expression level did not change in adenomatous and hyperplastic polyps. The E-cadherin gene expression level was decreased in the group of villous polyps. 

    Conclusion

     Studies have shown that a decrease in the expression level of the APC gene is one of the primary events in the formation of colorectal polyps, as well as a decrease in the expression level of the E-cadherin gene is considered a late event of polyp malignancy. These genes can be applied as biomarkers for early detection of colorectal cancer.

    Keywords: colorectal cancer, Real-time PCR, E-cadherin, β-catenin, APC
  • Fatemeh Ghafarifar, Abdolhossein Dalimi*, Mehrdad Hashemi, Fatemeh Ghaffarifar Page 3
    Background

    The Leishmaniasis is a zoonosis disease with a global spread that occurs in two, cutaneous and visceral forms. In Iran, three species of Leishmania tropica, Leishmania major, and Leishmania infantum has been reported from different regions of the country. Nowadays, molecular methods are usually used for the diagnosis and identification of parasite species. Amplification of the ITS1 gene can also be used to differentiate symptomatic and asymptomatic visceral leishmaniasis as well as types of cutaneous leishmaniasis.

    Objectives

    The main aim of our research was to diagnose and identify the common Leishmania species in Iran through ITS1 gene amplification and using the PCR-RFLP method.

    Methods

    First, L. major, L. tropica, and L. infantum parasites were proliferated in an RPMI culture medium, and DNA was extracted from these species separately then ITS1 gene of the parasite was amplified using the PCR-RFLP method.

    Results

    The result of PCR-RFLP after enzymatic cutting indicated, L. tropica produced 4 fragments of 139, 76, 56, 20 bp bands; L. major showed two fragments of 165, 139 bp bands and L. infantum produced three fragments of 141, 91, 54 bp bands.

    Conclusion

    The results of the present study showed that the use of ITS1 gene and HaeIII enzyme in the PCR-RFLP method is efficient for identifying L. tropica, L. major, and L. infantum.

    Keywords: Leishmania major, L. tropica, L. infantum, RFLP-PCR, ITS1-gene
  • The application of Regenerative Medicine in the Treatment and Management of Covid-19
    Fatemeh Mirparsa*, Melika Sadat Mousavi Jahed, Mohades Amiri Page 4
    Background & Aims

    The spread of the Coronavirus caused domestic and international scientists and researchers to be on the same front to fight this disease with science and technology. Meanwhile, regenerative medicine is one of the fields with much capacity for treating and managing COVID-19. Therefore, this study aims to apply Regenerative Medicine in treating and managing Covid-19.

    Methods

    The present research was conducted as a narrative review. Through using the keywords “Stem cell, “Regenerative Medicine,” “Disease Management,” Treatment,” and “COVID-19 Pandemics”, the resources in databases of Google Scholar, PubMed, SID, and Magiran were obtained. The inclusion criterion was full free access to articles searched for with a time limit from 2019 to 2023. The number of articles was investigated, and after omitting the repeated articles, 37 studies remained. After searching the databases, 285 cases were studied, and by performing the inclusion and exclusion criteria and omitting the repeated ones, 248 articles were excluded, and 37 articles were included.

    Results

    By providing GMP-based services, Reconstructive Medicine has attempted to provide clinical services by global standards and conduct various research in this field. One of these areas is related to the treatment and management of Corona, where there is much capacity to produce a vaccine against this disease.

    Conclusion

    The results of this study showed that the coronavirus epidemic had many consequences, and finding effective and efficient treatments is of great importance. Which can have a special place in this field of regenerative medicine. Therefore, more clinical studies are needed.

    Keywords: regenerative medicine, treatment, management, covid- 19
  • Hadi Alimadad*, Kazem Bidoki, Dawud Esmaili, Abdolmajid Ghasemian Page 5
    Background

    Helicobacter pylori (H. pylori), infecting half of the global population, undergoes genetic diversity. The aim of this study included H. pylori genotyping among patients referred to hospitals of Tehran using PCR-RFLP technique using ureAB and ureCD genes. 

    Materials and methods

     Identifying and genotyping such prevalent and variable pathogens is challenging. To date, two versions of H. pylori have been sequenced, indicating an immense variability in its genome. To distinguish the H. pylori subtypes, the PCR-RFLP technique was used as a differentiation method. Among 37 H. pylori-positive gastric biopsies and 33 viable PCR products, ureAB and ureCD genes were selected for PCR-RFLP using HaeIII and NdeII, respectively. The resultant gel electrophoresis banding patterns were analyzed with visual evaluation. 

    Results

     PCR-RFLP standard run results were more appropriate compared to a single of each technique where a pair of H. pylori strains outlined identical banding patterns considering UreAB/HaeIII and UreCD/NdeII runs. 

    Conclusion

     The findings permit clinicians to make precise judgments on the priority of patients' treatment, cost reduction, and mitigation of the trend of resistance emergence.

    Keywords: Helicobacter pylori, Genotyping, PCR-RFLP technique
  • Soheila Abdi*, Fatemeh Mashayekhi, Amirnader Emami Razavi Page 6

    The Research on the effects of magnetic fields on the expression of miRNAs is helpful to understand better the mechanism of electromagnetic fields' function in the development and progression of cancer. This research investigates the effect of static magnetic fields with 1, 2, and 3 mT intensities on miR-214 expression change in the HCT-116 cell line. We used MTT assay to measure cell viability. In order to measure the expression changes of miR–214, real-time PCR was used. The results showed that the cell survival rate and expression of miR-214 had decreased significantly under the influence of magnetic fields in an intensity-dependent manner. Concerning the role of miRs in regulating signaling pathways involved in cancer promotion and progression, and their effectiveness under exposure to low-frequency magnetic fields, investigating and understanding the effects of different magnetic fields on the expression of miRs can be of great importance in preventing and controlling cancer.

    Keywords: Gene Expression, miR-214, Static magnetic fields, Expression change