• 제목/요약/키워드: Epigenetic factors

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한국 조현병 환자에서 검지-약지 길이비와 발병 연령 및 대사 장애와의 연관성 (The Association of the 2nd to 4th Digit Ratio with the Age of Onset and Metabolic Factors in Korean Patients with Schizophrenia)

  • 김홍래;이중선;주연호;원승희;류승형;홍경수;권준수;이승연;오홍석;최준호;이유상
    • 생물정신의학
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    • 제24권3호
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    • pp.142-148
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    • 2017
  • Objectives The ratio of second to fourth digit length (2D : 4D) could be a potential epigenetic marker of sexual dimorphism reflecting prenatal testosterone exposure. Testosterone is known to affect the development of the brain through an epigenetic mechanism. The purpose of this study was to investigate the effects of exposure to fetal testosterone on the metabolic syndrome based on 2D : 4D of schizophrenia patients and the relationship with the age of onset of schizophrenia. Methods A total of 214 schizophrenia patients participated in this study. The participant's physical and blood tests were performed according to the American National Cholesterol Education Program's Third Amendment of the Metabolic Syndrome Diagnostic Criteria, and the 2D : 4D was measured by the method designed by McFadden. Data were statistically analyzed by t-test, Pearson's correlation analysis and multiple regression model analysis. Results 2D : 4D was significantly higher in female than male in both hands, and there was a statistically significant negative correlation between 2D : 4D and the age of onset of schizophrenia in male. However, 2D : 4D did not show statistically significant correlation with metabolic factors. Conclusions Fetal testosterone suggests the possibility of affecting the age of onset of schizophrenia through the epigenetic mechanism, but there is no clear relationship with metabolic factors.

The first review study on association of DNA methylation with gastric cancer in Iranian population

  • Shahbazi, Mahsa;Yari, Kheirollah;Rezania, Niloufar
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권5호
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    • pp.2499-2506
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    • 2016
  • Background: Gastric cancer (GC) is the second leading cause of cancer-related death worldwide. Several environmental, genetic and epigenetic factors have been suggested to have a role in GC development. Epigenetic mechanisms like histone changes and promoter hyper-methylation are now being increasingly studied. Associations between methylation of many gene promoters with the risk of gastric cancer have been investigated worldwide. Such aberrant methylation may result in silencing of specific genes related to cell cycling, cell adhesion, apoptosis and DNA repair. Thus this molecular mechanism might have a key role in proliferation and migration of cancerous cells. Materials and Methods: In this review article we included studies conducted on DNA methylation and gastric cancer in Iranian populations. Using Science direct, Pubmed/PMC, Springer, Wiley online library and SciELO databases, all published data until 31 January 2016 were gathered. We also searched Science direct data base for similar investigations around the world to make a comparison between Iran and other countries. Results: By searching these databases, we found that the association between methylation of seven gene promoters and gastric cancer had been studied in Iran until 31 January 2016. These genes were p16, hLMH1, E-cadherin, CTLA4, $THR{\beta}$, mir9 and APC. Searching in science direct database also showed that 92 articles had been published around the world till January 2016. Our investigation revealed that despite the importance of GC and its high prevalence in Iran, the methylation status of only a few gene promoters has been studied so far. More studies with higher sample numbers are needed to reveal the relation of methylation status of gene promoters to gastric cancer in Iran. Conclusions: Further studies will be helpful in identifying associations of DNA methylation in candidate genes with gastric cancer risk in Iranian populations.

An Epigenetic Mechanism Underlying Doxorubicin Induced EMT in the Human BGC-823 Gastric Cancer Cell

  • Han, Rong-Fei;Ji, Xiang;Dong, Xing-Gao;Xiao, Rui-Jing;Liu, Yan-Ping;Xiong, Jie;Zhang, Qiu-Ping
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권10호
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    • pp.4271-4274
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    • 2014
  • The epithelial to mesenchymal transition (EMT) is a key step during embryonic morphogenesis and plays an important role in drug resistance and metastasis in diverse solid tumors. We previously reported that 48 h treatment of anti-cancer drug doxorubicin could induce EMT in human gastric cancer BGC-823 cells. However, the long term effects of this transient drug treatment were unknown. In this study we found that after 48 h treatment with $0.1{\mu}g/ml$ doxorubicin, most cells died during next week, while a minor population of cells survived and formed colonies. We propagated the surviving cells in drug free medium and found that these long term cultured drug survival cells (abbreviated as ltDSCs) retained a mesenchymal-like cell morphology, and expressed high levels of EMT-related molecules such as vimentin, twist and ${\beta}$-catenin. The expression of chromatin reprogramming factors, Oct4 and c-myc, were also higher in ltDSCs than parental cells. We further demonstrated that the protein level of p300 was upregulated in ltDSCs, and inhibition of p300 by siRNA suppressed the expression of vimentin. Moreover, the ltDSCs had higher colony forming ability and were more drug resistant when compared to parental cells. Our results suggested that an epigenetic mechanism is involved in the EMT of ltDSCs.

Factors Affecting the Efficiency of Animal Cloning by Somatic Cell Nuclear Transfer

  • Kim, Min-Goo;Park, Chi-Hun;Lee, Sang-Goo;Seo, Hee-Won;Choi, Yo-Han;Lee, Chang-Kyu;Ka, Hak-Hyun
    • 한국수정란이식학회지
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    • 제23권2호
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    • pp.67-76
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    • 2008
  • Since the birth of Dolly using fully differentiated somatic cells as a nuclear donor, viable clones were generated successfully in many mammalian species. These achievements in animal cloning demonstrate developmental potential of terminally differentiated somatic cells. At the same time, the somatic cell nuclear transfer (SCNT) technique provides the opportunities to study basic and applied biosciences. However, the efficiency generating viable offsprings by SCNT remains extremely low. There are several explanations why cloned embryos cannot fully develop into viable animals and what factors affect developmental potency of reconstructed embryos by the SCNT technique. The most critical and persuasive explanation for inefficiency in SCNT cloning is incomplete genomic reprogramming, such as DNA methylation and histone modification. Numerous studies on genomic reprogramming demonstrated that incorrect DNA methylation and aberrant epigenetic reprogramming are considerably correlated with abnormal development of SCNT cloned embryos even though its mechanism is not fully understood. The SCNT technique is useful in cloning farm animals because pluripotent stem cells are not established in farm animal species. Therapeutic cloning combined with genetic manipulation will help to control various human diseases. Also, the SCNT technique provides a chance to overcome excessive demand for the organs by production of transgenic animals as xenotransplantation resources. Here, we describe the factors affecting the efficiency of generating cloned farm animals by the SCNT technique and discuss future directions of animal cloning by SCNT to improve the cloning efficiency.

Epigenetic Control of Oxidative Stresses by Histone Acetyltransferases in Candida albicans

  • Kim, Jueun;Park, Shinae;Lee, Jung-Shin
    • Journal of Microbiology and Biotechnology
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    • 제28권2호
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    • pp.181-189
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    • 2018
  • Candida albicans is a major pathogenic fungus in humans, and meets at first the innate immune cells, such as macrophages, in its host. One important strategy of the host cell to kill C. albicans is to produce reactive oxygen species (ROS) by the macrophages. In response to ROS produced by the macrophages, C. albicans operates its defense mechanisms against them by expressing its oxidative stress response genes. Although there have been many research studies explaining the specific transcription factors and the expression of the oxidative stress genes in C. albicans, the regulation of the oxidative stress genes by chromatin structure is little known. Epigenetic regulation by the chromatin structure is very important for the regulation of eukaryotic gene expression, including the chromatin structure dynamics by histone modifications. Among various histone modifications, histone acetylation is reported for its direct relationship to the regulation of gene expression. Recent studies reported that histone acetyltransferases regulate genes to respond to the oxidative stress in C. albicans. In this review, we introduce all histone acetyltransferases that C. albicans contains and some papers that explain how histone acetyltransferases participate in the oxidative stress response in C. albicans.

The Laying Hen: An Animal Model for Human Ovarian Cancer

  • Lee, Jin-Young;Song, Gwonhwa
    • Reproductive and Developmental Biology
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    • 제37권1호
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    • pp.41-49
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    • 2013
  • Ovarian cancer is the most lethal world-wide gynecological disease among women due to the lack of molecular biomarkers to diagnose the disease at an early stage. In addition, there are few well established relevant animal models for research on human ovarian cancer. For instance, rodent models have been established through highly specialized genetic manipulations, but they are not an excellent model for human ovarian cancer because histological features are not comparable to those of women, mice have a low incidence of tumorigenesis, and they experience a protracted period of tumor development. However, the laying hen is a unique and highly relevant animal model for research on human ovarian cancer because they spontaneously develop epithelial cell-derived ovarian cancer (EOC) as occurs in women. Our research group has identified common histological and physiological aspects of ovarian tumors from women and laying hens, and we have provided evidence for several potential biomarkers to detect, monitor and target for treatment of human ovarian cancers based on the use of both genetic and epigenetic factors. Therefore, this review focuses on ovarian cancer of laying hens and relevant regulatory mechanisms, based on genetic and epigenetic aspects of the disease in order to provide new information and to highlight the advantages of the laying hen model for research in ovarian carcinogenesis.

Impact of perinatal environmental tobacco smoke on the development of childhood allergic diseases

  • Yang, Hyeon-Jong
    • Clinical and Experimental Pediatrics
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    • 제59권8호
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    • pp.319-327
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    • 2016
  • Allergic diseases such as asthma, allergic rhinitis, atopic dermatitis, and food allergy, are most common chronic, noncommunicable diseases in childhood. In the past few decades, the prevalence has increased abruptly worldwide. There are 2 possible explanations for the rising prevalence of allergic diseases worldwide, that an increased disease-awareness of physician, patient, or caregivers, and an abrupt exposure to unknown hazards. Unfortunately, the underlying mechanisms remain largely unknown. Despite the continuing efforts worldwide, the etiologies and rising prevalence remain unclear. Thus, it is important to identify and control risk factors in the susceptible individual for the best prevention and management. Genetic susceptibility or environments may be a potential background for the development of allergic disease, however they alone cannot explain the rising prevalence worldwide. There is growing evidence that epigenetic change depends on the gene, environment, and their interactions, may induce a long-lasting altered gene expression and the consequent development of allergic diseases. In epigenetic mechanisms, environmental tobacco smoke (ETS) exposure during critical period (i.e., during pregnancy and early life) are considered as a potential cause of the development of childhood allergic diseases. However, the causal relationship is still unclear. This review aimed to highlight the impact of ETS exposure during the perinatal period on the development of childhood allergic diseases and to propose a future research direction.

Lung Cancer Staging and Associated Genetic and Epigenetic Events

  • Kim, Dohun;Lee, You-Soub;Kim, Duk-Hwan;Bae, Suk-Chul
    • Molecules and Cells
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    • 제43권1호
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    • pp.1-9
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    • 2020
  • The first step in treating lung cancer is to establish the stage of the disease, which in turn determines the treatment options and prognosis of the patient. Many factors are involved in lung cancer staging, but all involve anatomical information. However, new approaches, mainly those based on the molecular biology of cancer, have recently changed the paradigm for lung cancer treatment and have not yet been incorporated into staging. In a group of patients of the same stage who receive the same treatment, some may experience unexpected recurrence or metastasis, largely because current staging methods do not reflect the findings of molecular biological studies. In this review, we provide a brief summary of the latest research on lung cancer staging and the molecular events associated with carcinogenesis. We hope that this paper will serve as a bridge between clinicians and basic researchers and aid in our understanding of lung cancer.

Variant of CHD1 gene resulting in a Korean case of Pilarowski-Bjornsson syndrome

  • Yoon Sunwoo;Soo Hyun Seo;Ho-Joong Kim;Moon Seok Park;Anna Cho
    • Journal of Genetic Medicine
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    • 제19권2호
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    • pp.111-114
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    • 2022
  • Many monogenic neurodevelopmental disorders have been newly identified in recent years owing to the rapid development of genetic sequencing technology. These include variants of the epigenetic machinery - up to 300 known epigenetic factors of which about 50 have been linked to specific clinical phenotypes. Chromodomain, helicase, DNA binding 1 (CHD1) is an ATP-dependent chromatin remodeler, known to be the causative gene of the autosomal dominant neurodevelopmental disorder Pilarowski-Bjornsson syndrome. Patients exhibit various degrees of global developmental delay, autism, speech apraxia, seizures, growth retardation, and craniofacial dysmorphism. We report the first case of Pilarowski-Bjornsson syndrome in Korea, due to a de novo missense variant of the CHD1 gene (c.862A>G, p.Thr288Ala) in a previously undiagnosed 17-year-old male. His infantile onset of severe global developmental delay, intellectual disability, speech apraxia, and failure to thrive are compatible with Pilarowski-Bjornsson syndrome. We also noted some features not previously reported in this syndrome such as skeletal dysplasia and ichthyosis. Further studies are needed to discover the specific phenotypes and pathogenic mechanisms behind this rare disorder.

Factors Involving Reprogramming in Cloned Embryos

  • Kim, N. H;X. S. Cui;Kim, I. H.;Y. M. Han
    • 한국가축번식학회지
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    • 제27권4호
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    • pp.349-357
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    • 2003
  • Although nuclear transfer (NT) techniques are used to clone animals, its efficiency is very low. Moreover, nuclear transfer has resulted in offspring with severe developmental problems, probably due to incomplete nuclear reprogramming. Nuclear reprogramming is characterized by functional modification of the transferred nucleus to allow it to direct normal embryo development with the potential to grow to term. Although the nature of the reprogramming factor(s) in mammals is not clear, various nuclear as well as cytoplasmic components are involved in the processes. In this article we review recent data on factors involved in the nuclear reprogramming of cloned embryos.