Aug 2020, Volume 7 Issue 02
    

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  • Editorial
    Feiyu Diao
  • Review Article
    Xiaojuan Wang, Na Li, Wei Li, Xinlei Gao, Muha Cha, Lijin Qin, Lihong Liu

    Adverse stress influences the normal growth and development of plants. With the development of molecular biology technology, understanding the molecular mechanism of plants in response to adverse stress has gradually become an important topic for academic exploration. The expression of the transcriptome is dynamic, which reflects the level of expression of all genes in a particular cell, tissue, or organ of an individual organism at a particular stage of growth and development. Transcriptomics can disclose the expression at the whole genome level under stress from the whole transcriptional level, which can be useful in understanding the complex regulatory network associated with the adaptability and tolerance of plants to stress. In this article, we review the application of transcriptomics in understanding the response of plants to biotic stresses such as diseases and insect infestation and abiotic stresses such as water, temperature, salt, and heavy metals to provide a guideline for related research.

  • Review Article
    Wedad Saeed Al-Qahtani, Ebtesam Al-Olayan, Fatimah Gh. Albani, Rania Saad Suliman, Nada Hamad Aljarba, E.M. Al-Humaidhi, Alanood S. Almurshedi, Dalia Mostafa Domiaty, Manal Abdullah Alduwish, Aljohara M. Al-Otaibi, Abdelbaset Mohamed Elasbali, Hussain Gadelkarim Ahmed, Bassam Ahmed Almutlaq

    Background Cancer and diabetes have a tremendous impact on health globally. This study aimed to evaluate the KRAS gene in colon cancer tissues obtained from patients with type 2 diabetes mellitus (T2DM).
    Materials and Methods Data from 315 cases (156 colon diabetics and 159 patients were nondiabetics) were retrospectively retrieved. mRNA from surgically resected colon cancer tumors were also retrieved.
    Results The expression of KRAS mRNA was significantly higher in patients afflicted with T2DM than nondiabetic patients. The KRAS mRNA levels were significantly amplified from primary to metastatic lesions (p < 0.001).
    Conclusion The association between T2DM and colon cancer was well-established in the present study.

  • Original Article
    Mahmoud Abudayyak, Tuğçe Boran, Rumeysa Tukel, Ezgi Oztas, Gül Özhan

    Paraoxonase 1 (PON1) enzyme plays a major role in antioxidant defense and protects the cells against reactive species. The most common PON1 Q192R and L55M polymorphisms are responsible for a wide variation of PON1 activity, which showed an up to 13-fold interindividual variation among the same genotype. PON1 genotypes were evaluated with the development of pancreatitis, colorectal cancer, and hypothyroidism in a hospital-based, case-control study. Individuals with rs662 G allele had a two-fold risk of developing hypothyroidism. A weak association was found between rs854560 T allele and pancreatitis. The results were preliminary. Further studies with a larger number and detailed biochemical parameters are needed.

  • Original Article
    Tamar Kvaratskhelia, Elene Abzianidze, Ketevan Asatiani, Merab Kvintradze, Sandro Surmava, Eka Kvaratskhelia

    The aim of this study was to investigate the frequency of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms in Georgian females with hypothyroidism. Thirty-four patients and 29 healthy individuals were recruited in this study. Polymerase chain reaction-restriction fragment length polymorphism analyses were used for genotyping of MTHFR polymorphisms. The results of this study suggest that the MTHFR C677T variant was significantly associated with hypothyroidism. In addition, in individuals with T allele risk of hypothyroidism significantly increased. Combination of CT/AA genotypes was more prevalent in the hypothyroid patients than in the control group. Thus, C677T polymorphism could be a possible genetic factor contributing to the pathophysiology of hypothyroidism, possibly through hyperhomocysteinemia.

  • Original Article
    Darja Kanduc, Yehuda Shoenfeld

    Sequence analyses highlight a massive peptide sharing between immunoreactive Epstein-Barr virus (EBV) epitopes and human proteins that—when mutated, deficient or improperly functioning—associate with tumorigenesis, diabetes, lupus, multiple sclerosis, rheumatoid arthritis, and immunodeficiencies, among others. Peptide commonality appears to be the molecular platform capable of linking EBV infection to the vast EBV-associated diseasome via cross-reactivity and questions the hypothesis of the “negative selection” of self-reactive lymphocytes. Of utmost importance, this study warns that using entire antigens in anti-EBV immunotherapies can associate with autoimmune manifestations and further supports the concept of peptide uniqueness for designing safe and effective anti-EBV immunotherapies.

  • Original Article
    Darja Kanduc, Yehuda Shoenfeld

    Comparing mammalian proteomes for molecular mimicry with infectious pathogens highlights the highest levels of heptapeptide sharing between pathogens and human, murine, and rat proteomes, while the peptide sharing level is minimal (or absent) with proteomes from nonhuman primates such as gorilla, chimpanzee, and rhesus macaque. From the medical point of view, the data might be useful to clinicians and vaccinologists to develop and evaluate immunomodulatory and immunotherapeutic approaches. As a matter of fact, primates seem to be unreliable animal models for revealing potential autoimmune events in preclinical testing of immunotherapies. In terms of genomics, the scarce or absent peptide sharing between pathogens and primates versus the massive peptide sharing existing between pathogens and humans lets foresee mechanisms of pathogen sequence insertion/deletion/alteration that have differently operated in mammals over evolutionary timescales. Why and how the human genome has been colonized by pathogen sequences and why and how primates escaped such a colonization appears to be the new scientific challenge in our efforts to understand not only the origin of Homo sapiens but also his autoimmune diseasome.

  • Case Report
    Sinem Yalcintepe, Selma Demir, Emine Ikbal Atli, Murat Deveci, Engin Atli, Hakan Gurkan

    Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases. Especially cardiovascular system disorders (aortic root dilatation and enlargement of the pulmonary artery) may be life-threatening. We report here the genetic analysis results of three unrelated cases clinically diagnosed as Marfan syndrome. Deoxyribonucleic acid (DNA) was isolated from EDTA (ethylenediaminetetraacetic acid)-blood samples of the patients. A next-generation sequencing panel containing 15 genes including FBN1 was used to determine the underlying pathogenic variants of Marfan syndrome. Three different variations, NM_000138.4(FBN1):c.229G > A(p.Gly77Arg), NM_000138.4(FBN1):c.165-2A > G (novel), NM_000138.4(FBN1):c.399delC (p.Cys134ValfsTer8) (novel) were determined in our three cases referred with a prediagnosis of Marfan syndrome. Our study has confirmed the utility of molecular testing in Marfan syndrome to support clinical diagnosis. With an accurate diagnosis and genetic counseling for prognosis of patients and family testing, the prenatal diagnosis will be possible.