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Mar 2024 DOI 10.14302/issn.2689-4602.jes-24-4982
O. Henderson JeffreyCorresponding author
Mammalian Rbm45 is predominately expressed in neuronal tissue and is integral in brain development and neuronal differentiation under physiological conditions. Dysregulation of Rbm45 has been strongly associated with neurodegenerative disorders in humans and can drive hepatocellular carcinoma through reprogramming lipid metabolism. Intriguingly, Rbm45 is an ancient protein, evolutionarily conserved throughout metazoans, including in sponges which lack a nervous system. Curiously, the evolution of Rbm45 gene structure and protein domain conservation across kingdom Animalia is largely unknown. We performed phylogenetic analysis of Rbm45 nucleotide and amino acid sequences from 36 species representing 9 phyla: Porifera, Cnidaria, Priapulida, Mollusca, Brachiopoda, Arthropoda, Echinodermata, Hemichordata, and Chordata. While the tree from Rbm45 nucleotide sequence data resulted in clades Protostomia and Deuterostomia showing paraphyly, the phylogeny derived from Rbm45 amino acid sequence largely recapitulated known monophyletic relationships among metazoans. Human RBM45 protein structure includes three RNA-binding domains (RBD), a homo-oligomerization association (HOA) domain, a nuclear localization sequence (NLS), and a nuclear export sequence (NES). Multiple sequence alignment across the same 36 taxa used for phylogenetic analysis revealed conservation of all three RBDs, the HOA, and NLS; in contrast the NES was only detected in clade Craniata and not in clades Ambulacraria and Protostomia. Rbm45 gene structure analysis revealed increasing gene complexity concomitant with increasing evolutionary complexity. Rbm45 from non-bilaterian taxa had from 2 to 4 large exons, while bilaterian taxa had between 6 to17 small exons. These findings demonstrate that Rbm45 is an ancient, highly conserved gene among metazoans suggesting a function in a breadth of neural/sensory systems.
Feb 2022 DOI 10.14302/issn.2379-8572.joa-22-4072
Mario Biava PierCorresponding author
Centro Medico Turati, Piazza Cavour 1, Milano (MI)
This translational paper discusses differentiation‑stage factors from zebrafish embryos as epigenetic regulators with potential to reverse neurosensory hearing loss. It outlines experimental evidence, delivery concepts, and research gaps.
Apr 2020 DOI 10.14302/issn.2574-4518.jsdr-20-3161
Sedky KarimCorresponding author
Psychiatry Residency Director and Medical Student Education Director, Cooper Medical School of Rowan University
Delayed sleep phase syndrome (DSPS) is a circadian rhythm disorder where individuals experience difficulty modifying the time they go to sleep and wake up in response to environmental changes. The circadian rhythm itself is regulated by a variety of clock genes, and various other genes (e.g., AA-NAT gene, CKIϵ gene) code for proteins that regulate clock genes. Various polymorphisms of the clock gene influencers have been shown to increase susceptibility to DSPS. This paper seeks to examine how certain cultural characteristics (e.g., napping, timing of meals, exposure to artificial light) and the presence of the AA-NAT gene (G619A polymorphism) and the CKIϵ gene (S408N polymorphism) influence the prevalence of DSPS amongst Japanese and Brazilian populations.
Dec 2019 DOI 10.14302/issn.2694-1198.jge-19-3079
Volobuev A.N.Corresponding author
Samara State Medical University, Department of Medical Physics, Samara, Russia
The problem of natural selection against recessive homozygotes in a population is investigated. It is shown that natural selection of mutant alleles linked with the Х-chromosome in a population at women is described by the nonlinear differential equation of the third order. The order of the differential equation characterizes a power of selection. It is marked that the high order of the differential equation of natural selection allows level all mutational processes in Earth populations.
Mar 2018 DOI 10.14302/issn.2639-3166.jar-18-1987
Narain PremCorresponding author
Professor and Independent Researcher, 29278 Glen Oaks Blvd. W., Farmington Hills MI 48334-2932
The scientific and technological interventions for attaining precision in plant genetics and breeding since Mendel’s discovery of genetic laws have been critically reviewed in terms of cloning technology and reverse genetics, chip technology, genetically modified organisms and CRISPR-based gene editing technology. Their roles in further refining the plant genetics and breeding practices particularly their exploitation in creating variations and their use for development of superior genotypes in model crops like wheat and rice have been discussed. It is stressed how such interventions could prove to be promising for meeting future crop improvement program in terms of climate change, bio-fortification, imaging technology, statistics, big data revolution and deep learning.
May 2015 DOI 10.14302/issn.2379-7835.ijn-14-603
Lundstrom KennethCorresponding author
PanTherapeuitcs, Rue des Remparts 4, CH1095 Lutry, Switzerland
Epigenetic mechanisms based on DNA methylation, histone modifications and RNA interference have recently showed important association to the development of a wide variety of diseases such as cancer, cardiovascular, metabolic, skin, autoimmune diseases and neurologic disorders. In the context of preventive aspects, the importance of nutrition on epigenetic function has been revealed. Therefore, drastic changes in dietary modifications may contribute to reduced disease risk. For instance, dietary intervention has been showed to affect DNA methylation in Alzheimer’s disease patients. Moreover, maternal high-fat diet can regulate gene expression through promoter histone modifications. Most importantly, RNA interference and particularly micro-RNA mediated regulation of gene expression has been linked to disease development. Remarkably, dietary intake has been demonstrated to significantly affect various miRNAs and their regulation on gene function. In this review, the relationship between epigenetics and disease and development of drugs based on epigenetic targets is presented as well as the influence of dietary intake on epigenetic mechanisms and its effect on disease prevention and therapy will be discussed.
Apr 2022 DOI 10.14302/issn.2372-6601.jhor-22-4133
Qing XinCorresponding author
Department of Pathology, Harbor-UCLA Medical Center, 1000 West Carson Street, Torrance, CA 90502, USA.
Background Monoclonal gammopathy of undetermined significance (MGUS) and chronic myeloid leukemia (CML) are diseases of different lineages. The diagnosis of both MGUS and CML in the same patient is a rare occurrence and has not been reported in much literature. Case Presentation We describe a 56-year-old man with a history of rheumatoid arthritis incidentally found to have an increase in IgA paraprotein. With less than 10% monoclonal plasma cells on the bone marrow biopsy and absence of hypercalcemia, renal failure, anemia and bone lesions, MGUS was diagnosed. The conventional cytogenetics at the time showed the presence of the Philadelphia chromosome in 30% of metaphases. However, there was no morphologic evidence of CML in the peripheral blood or bone marrow. Patient received no treatment and lost follow-up until 3 years later when a routine CBC showed leukocytosis and thrombocytosis. CML, chronic phase was diagnosed following a bone marrow aspiration and biopsy with Philadelphia chromosome observed in 100% of metaphases. Patient was treated with imatinib and later switched to dasatinib and complete molecular remission was continued to be achieved. Discussion and Conclusion Here we report a case of pre-leukemic CML as an incidental finding during the diagnosis of MGUS. The possible underlying mechanisms of the association are discussed although the exact cause of the coexistence is unclear.
Mar 2021 DOI 10.14302/issn.2329-9487.jhc-21-3742
Sisay TesfayeCorresponding author
Associate Professor
Cardiovascular disease is actually a major cause of mortality, illness and hospitalization worldwide. Several risk factors have been identified that are strongly associated with the development of cardiovascular disease. Public prevention strategies have relied predominately on managing environmental factors that contribute to cardiovascular disease, such as obesity, smoking and lack of exercise. The understanding of the role of genetics in cardiovascular disease development has become much more important to link genetics with the onset of disease and response to therapy. This seeks to examine how genes can predispose individuals to cardiovascular disease and how this knowledge might be applied to more comprehensive preventive strategies in the future. In addition, the review explores possibilities for genetics in cardiovascular disease treatment, particularly through the use of identified driver genes and gene therapy. To fully understand the biological implications of these associations, there is a need to relate them to the exquisite, multilayered regulation of protein expression and regulatory elements, mutation, microRNAs and epigenetics. Understanding how the information contained in the DNA relates to the operation of these regulatory layers will allow us not only to better predict the development of cardiovascular disease but also to develop more effective therapies.
Mar 2020 DOI 10.14302/issn.2575-1212.jvhc-20-3234
di Virgilio FabrizioCorresponding author
DVM, Clinique Vétérinaire Vet24 – 59700 – Marcq en Baroeul, France
Aim of the Research The aim of this study is to analyze a group of dogs of different breeds affected by osteosarcoma (OSA), to document any prevalence of this primary bone neoplasia in breeds that are phylogenetically close and to help with further research human medicine, as a model of study for prevalence and epidemiology of human OSA in multiple populations. Study Design Pilot study from two canine surgery databases between 2002 and 2013. Materials and Methods Breeds were classified in groups based on their phylogenetical proximity. Differences in prevalence of OSA between breeds and groups were evaluated with a permutation test. For each breed and each group, a ranking was made by calculating 95 % confidence intervals and counting the no-overlapping between breeds and groups. The relation between the dogs’ heights and the prevalence of OSA was analyzed using a logistic regression between the disease status and dog size. Results A total of 67 dogs with OSA, in 26 different breeds were included. Ten breeds were overrepresented and, the majority of these, were classified in 2 predisposed groups phylogenetically close to each other. The prevalence of OSA was associated with the dogs’ height within predisposed breeds, but, in general, taller breeds were not the most affected. Conclusions and Clinical Relevance In this study, despite the small number of dogs, we observed that the most commonly affected breeds with OSA are phylogenetically closely related. This highlights the importance of genetics in the aetiology of canine OSA . In this preliminary study, indications are given on breeds, samples and genome locations to be further investigated. This could allow identification of pathogenic alleles in dogs, and potentially in humans. Furthermore this pilot research can represent a model of epidemiologic study of human OSA.
Feb 2020 DOI 10.14302/issn.2639-3166.jar-20-3185
Masoero GiorgioCorresponding author
Accademia di Agricoltura di Torino, Via A. Doria 10, 10123 Torino (Italy).
Four strains of Arbuscular Mycorrhizal (AM) biofertilizer fungi, combined with two potato cultivars, were in-field tested in a four-replicate arrangement in a factorial experiment. As far as general combinability is concerned, cv. Agria was more responsive to different inocula (yield +5.56%, P 0.02) and to two strains in particular (+8%). On the other hand, the results with Innovator, a cultivar that yields 33% less than Agria, showed a significant reduction in the number of tubers for three AM strains, thus proving a clear genetic Biofertilizer * Cultivar interaction. The study of hay litter-bags has shown a high NIR spectral fingerprint for the Cultivar factor (81%), while the Inoculation factor showed a higher spectral fingerprint in Agria (76%) than in Innovator (65%). The Substrate Induced Respiration predicted from the NIR-SCiO spectra of the litter-bags was significantly increased after inoculation (+6.3%, P 0.04), but appeared lower for Agria (-5.4%) vs. Innovator (P 0.05), with a non-significant interaction. The obtained results show that the adaptation of the AM strains to the genetics of potato cultivars is a first step toward reducing chemical inputs, with consequent benefits for the environment, but without an excessive reduction in yield. The litter-bag technique can therefore be recommended for a simplified monitoring of the complicated plant-mycorrhizosphere relationship.
Jun 2019 DOI 10.14302/issn.2688-5328.ijp-19-2731
Wei XiangCorresponding author
Hospital of Suzhou University, Suzhou, China
The rise of epigenetics provides a new idea for studying the regulation of chronic pain-related genes and synaptic plasticity. External environmental stimuli can regulate BDNF genes through different epigenetic modifications. The epigenetic changes of the BDNF gene can affect the expression of its mRNA and protein and participate in the development of chronic pain. By reviewing the literature, this paper reviews the mechanism of epigenetic regulation of brain-derived neurotrophic factor (BDNF) in chronic pain, which provides some new directions and targets for the treatment of chronic pain.
Aug 2018 DOI 10.14302/issn.2689-4602.jes-18-2229
Mikhailovsky GeorgeCorresponding author
Global Mind Share, Norfolk, VA, United States
A historical and conceptual review traces how evolutionary theory has expanded from classical selection to modern syntheses incorporating development, epigenetics, and systems thinking. Implications for research and science communication are discussed.
May 2018
Alatsathianos IoannisCorresponding author
Laboratory of Hygiene, Epidemiology and Medical Statistics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Genetics alone cannot thoroughly expound the environmental impact on the molecular complexity of the endocrine system. Epigenetic-induced alteration in gene expression has emerged as a way in which environmental compounds may exert endocrine effects. The environmental compounds that interfere with normal endocrine signaling are one of the largest classes of toxicants we are exposed to, on a daily basis. Epigenetic mechanisms, mainly the methylation of DNA and the modification of histones, lead to differentiated activation and deactivation of genome domains creating phenotype plasticity and divergent endocrine function among populations and individuals, as well. The issues examined in the present review are related to environmental epigenetics, and more precisely, the epigenetic-mediated modulation and relevance of endocrine disrupting chemicals, focusing on three broad aspects: 1) persistence of EDs, 2) their major hormonal effects and 3) the potential of compounds previously considered as endocrine disruptors to induce epigenetic effects. Evidence suggests that environmental exposures notably impact expression of endocrine-related genes and, thus, affect clinical endocrine outcomes.
Aug 2017 DOI 10.14302/issn.2379-7835.ijn-17-1710
Çöpür MazlumCorresponding author
Associate Professor in Child and Adolescence Psychiatry. Arel University Faculty of Science and Letters Department of Psychology
Background: High number of patients suffering from autism spectrum disorders utilize dietary intervention methods, especially gluten-free/casein-free diet. In contrast with its’ extensive usage no sufficient and consistent data exist to support its’ efficiency and safety. Objective: The main aim of this systematic review is to provide a general look to the efficiency and safety of gluten-free/casein-free diet treatment for autism spectrum disorders. Method: Studies used in this systematic review are gathered from 3 online databases (PubMed, Embase and the Cochrane Library). Inclusion criteria are established for study selection. Articles published in a peer-reviewed article between 1990 and 2016 in English about our topic of interest and conducted with patients under the age of eighteen (18) are selected and further analyzed (“Level of Evidence” and “Grade of Recommendation” criteria are utilized). Results: Even though some studies with high values of “Level of Evidence” claim that gluten-free/casein-free diet is beneficial for patients suffering from autism spectrum disorders, studies with lower risk of bias demonstrate otherwise. Since studies such as case reports and cohort studies may contain bias associated with small sample size, absence of clear assessment methods, lack of randomization and short treatment period we suggest that there is no sufficient data to support gluten-free/casein-free diet treatment. Conclusion: Due to controversial outcomes from studies that have different “Level of Evidence” we speculate that efficiency of gluten-free/casein-free diet might be related to individual genetic differences. Therefore, studies conducted with large study groups could not provide statistically significant data to support this treatment option. Further studies should be conducted, especially in the field of genetics, in order to test our hypothesis.
Feb 2017 DOI 10.14302/issn.2372-6601.jhor-17-1423
YA Dei-AdomakohCorresponding author
Departments of Haematology
Background: The diagnosis and treatment outcomes of Non- Hodgkin Lymphoma’s (NHL) in resource poor countries in the absence of routine molecular studies and immunohistochemistry is challenging. Methods: A retrospective review of case folders of NHL patients aged13 years and above. Information obtained from the case folders included age, sex, histological subtype, subtypes using the Working Formulation and WHO classifications. Treatment given and follow up information were also evaluated. Results: A total of 279 cases of NHL were identified within the study period. The mean age of the patients was 48.8 ± 17.0 years. The male to female ratio was approximately 1.5:1. The majority of cases seen (53%) were diffuse large B- cell lymphoma. Chronic lymphocytic leukaemia/ small lymphocytic lymphoma (22.2%) was the next most common subtype. Other sub types seen, in order of frequency, included diffuse mixed cell lymphoma (6.4%), gastric lymphomas (3.9%), mediastinal B- cell lymphoma (2.9%), Burkitt’s lymphoma (1.8%), splenic marginal zone B-cell lymphoma (1.1%), lymphoblastic lymphoma (1.1%), mucosa- associated lymphoid tissue (MALT) type B- cell lymphoma (0.7%) and follicular lymphoma (0.7%). Conclusion: This study provides an overview of the distribution of NHL subtypes and their outcomes in a resource constrained setting. Immunohistochemistry, cytogenetics and specific molecular studies which are important in characterization of NHLs, should be made affordable and accessible in low income countries.