Medical epigenetics最新文献_第4页

Epidemiology, Epigenetics, and Psychopathology 流行病学、表观遗传学和精神病理学

Medical epigenetics Pub Date : 2014-05-21 DOI: 10.1159/000362762

A. Bustamante, M. Uddin

引用次数: 1

Epigenetic Regulation of Infant Neurobehavioral Outcomes. 婴儿神经行为结果的表观遗传调控。

Medical epigenetics Pub Date : 2014-05-01 DOI: 10.1159/000361026

Corina Lesseur, Alison G Paquette, Carmen J Marsit

{"title":"Epigenetic Regulation of Infant Neurobehavioral Outcomes.","authors":"Corina Lesseur, Alison G Paquette, Carmen J Marsit","doi":"10.1159/000361026","DOIUrl":"10.1159/000361026","url":null,"abstract":"During fetal development and early-infancy, environmental signals can induce epigenetic changes that alter neurobehavioral development and later-life mental health. Several neurodevelopmental genetic diseases influence epigenetic regulatory genes and genomic imprinting. Recently, brain epigenetic marks have been involved in idiopathic neurodevelopmental disorders including autism spectrum disorders (ASD). The placenta is an important regulator of the intrauterine environment that links maternal and fetal nervous systems. Placental epigenetic signatures have been associated with neurodevelopment of healthy newborns quantified through the NICU Network Neurobehavioral Scales (NNNS). Associations have been observed for DNA methylation of genes involved in cortisol (NR3C1, HSD11B), serotonin (HTR2A), and metabolic (LEP) pathways. Dysregulation of imprinted genes and microRNAs has also been associated with neurobehavior assessed by NNNS. Further analysis is needed to characterize the mechanisms by which the epigenome influences neurodevelopment, and the connection between this dysregulation and mental health disorders. In the future, epigenetic marks could serve as functional biomarkers of mental health and cognitive function.","PeriodicalId":90260,"journal":{"name":"Medical epigenetics","volume":"2 2","pages":"71-79"},"PeriodicalIF":0.0,"publicationDate":"2014-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4116357/pdf/nihms582319.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32557521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Epigenetics of Cardiovascular Disease - A New "Beat" in Coronary Artery Disease. 心血管疾病的表观遗传学-冠状动脉疾病的新“节拍”。

Medical epigenetics Pub Date : 2014-04-01 DOI: 10.1159/000360766

Paul J Turgeon, Aravin N Sukumar, Philip A Marsden

{"title":"Epigenetics of Cardiovascular Disease - A New \"Beat\" in Coronary Artery Disease.","authors":"Paul J Turgeon, Aravin N Sukumar, Philip A Marsden","doi":"10.1159/000360766","DOIUrl":"https://doi.org/10.1159/000360766","url":null,"abstract":"Genome-wide association studies (GWAS) have become a powerful tool in the identification of disease-associated variants. Unfortunately, many of these studies have found that the estimated variability in cardiovascular disease risk cannot be fully explained by traditional paradigms of genetic variation in protein coding genes. Moreover, traditional views do not sufficiently explain the well-known link between cardiovascular disease and environmental influence. We posit that epigenetics, defined as chromatin-based mechanisms important in the regulation of gene expression that do not involve changes in the DNA sequence per se, represents the missing link. The nuclear-based mechanisms that contribute to epigenetic gene regulation can be broadly separated into three unique but highly interrelated processes: DNA methylation and hydroxymethylation; histone density and post-translational modifications; and RNA-based mechanisms. Together they complement the cis/trans perspective on transcriptional control paradigms in blood vessels. Moreover, it provides a molecular basis for understanding how the environment impacts the genome to modify cardiovascular disease risk over the lifetime of a cell and its offspring. This review provides an introduction to epigenetic function and cardiovascular disease, with a focus on endothelial cell biology. Additionally, we highlight emerging concepts on epigenetic gene regulation that are highly relevant to atherosclerosis and coronary artery disease.","PeriodicalId":90260,"journal":{"name":"Medical epigenetics","volume":"2 1","pages":"37-52"},"PeriodicalIF":0.0,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000360766","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32823622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 41

Nutrition and Epigenetics in Human Health 人类健康中的营养和表观遗传学

Medical epigenetics Pub Date : 2014-02-12 DOI: 10.1159/000358883

R. Murray, G. Burdge, K. Godfrey, K. Lillycrop

引用次数: 7

From Normal Development to Disease: The Biochemistry and Regulation of GLI2 从正常发育到疾病:GLI2的生物化学和调控

Medical epigenetics Pub Date : 2014-02-07 DOI: 10.1159/000358364

A. McCleary-Wheeler

{"title":"From Normal Development to Disease: The Biochemistry and Regulation of GLI2","authors":"A. McCleary-Wheeler","doi":"10.1159/000358364","DOIUrl":"https://doi.org/10.1159/000358364","url":null,"abstract":"GLI2 is an oncogene encoding a unique transcription factor with both repressor and activator functions. Vitally important in development, it is also thought to be necessary for homeostasis of adult cells. However, deregulation of the GLI2 protein can result in detrimental effects to an organism, such as congenital defects or cancer. Historically deemed an activator and effector molecule of the Hedgehog signaling pathway, GLI2 has since been shown to be a critical effector of other signaling pathways, thus positioning itself as a potent mediator of signaling crosstalk. While GLI2 activity can be modulated by a variety of signaling influences, its regulation at the gene level is less understood. Indeed, gene mutations in GLI2 have been reported, but these generally led to developmental defects and are less commonly identified in tumors as being a cause of its deregulation. While the biological importance of GLI2 overexpression in a multitude of unrelated cancers has been well established, questions about the mechanisms leading to aberrant expression have remained largely unanswered. Furthering our understanding of both the transcriptional regulation of the GLI2 gene and the target genes regulated by GLI2 may identify novel therapeutic targets for cancer treatment.","PeriodicalId":90260,"journal":{"name":"Medical epigenetics","volume":"2 1","pages":"1 - 19"},"PeriodicalIF":0.0,"publicationDate":"2014-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000358364","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64703263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 8

Pyrosequencing Evaluation of Widely Available Bisulfite Conversion Methods: Considerations for Application. 焦磷酸测序对亚硫酸氢盐转化方法的评价:应用考虑。

Medical epigenetics Pub Date : 2014-01-01 DOI: 10.1159/000358882

Benedetta Izzi, Alexandra M Binder, Karin B Michels

{"title":"Pyrosequencing Evaluation of Widely Available Bisulfite Conversion Methods: Considerations for Application.","authors":"Benedetta Izzi, Alexandra M Binder, Karin B Michels","doi":"10.1159/000358882","DOIUrl":"https://doi.org/10.1159/000358882","url":null,"abstract":"Introduction: Bisulfite treatment of DNA introduces methylation-dependent sequence changes through selective chemical conversion of nonmethylated cytosine to uracil and serves as pretreatment step for the majority of DNA methylation analysis methods.Methods: We have evaluated the conversion performance of five of the most commonly used bisulfite treatment kits [MethylDetector (Active Motif), Epitect+ (Qiagen), Zymo Methylation, Zymo Gold and Zymo Lightning (all from Zymo Research)] by pyrosequencing four different regions with variable methylation levels, including: a repetitive element (ALUSX), a gene with low levels of methylation (IL6ST), an imprinted gene expected to be approximately 50% methylated (IGF2), and a fully methylated gene (ST3GAL2). In addition, we have studied the influence of duration (3 vs. 16 h) and type (fixed temperature vs. cycling program) of incubation protocol on the conversion efficiency of each evaluated kit.Results: All kits produced similar conversion rates of ALUSX, IGF2 and ST3GAL2, while the conversion of the low methylated IL6ST gene was variable between kits. The Zymo kits were highly consistent in their performance even when different protocols of incubation were applied, generating full conversion at the low methylated gene IL6; this was not true for the MethylDetector and Epitect+ kits. However, long-cycling incubation could produce similar conversion rates for the same locus in combination with Active Motif and Qiagen kits.Conclusions: The selection of a long-cycling protocol during conversion permits standardization of protocols, improving the reproducibility of methylation estimates across laboratories for gene-specific, genome-wide and bisulfite-based sequencing analyses.","PeriodicalId":90260,"journal":{"name":"Medical epigenetics","volume":"2 1","pages":"28-36"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000358882","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32436713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 31

Investigating Epigenetic Effects of Prenatal Exposure to Toxic Metals in Newborns: Challenges and Benefits. 调查新生儿产前暴露于有毒金属的表观遗传效应:挑战和益处。

Medical epigenetics Pub Date : 2014-01-01 DOI: 10.1159/000362336

Monica D Nye, Rebecca C Fry, Cathrine Hoyo, Susan K Murphy

{"title":"Investigating Epigenetic Effects of Prenatal Exposure to Toxic Metals in Newborns: Challenges and Benefits.","authors":"Monica D Nye, Rebecca C Fry, Cathrine Hoyo, Susan K Murphy","doi":"10.1159/000362336","DOIUrl":"https://doi.org/10.1159/000362336","url":null,"abstract":"Increasing evidence suggest that epigenetic alterations can greatly impact human health, and that epigenetic mechanisms (DNA methylation, histone modifications, and microRNAs) may be particularly relevant in responding to environmental toxicant exposure early in life. The epigenome plays a vital role in embryonic development, tissue differentiation and disease development by controlling gene expression. In this review we discuss what is currently known about epigenetic alterations in response to prenatal exposure to inorganic arsenic (iAs) and lead (Pb), focusing specifically on their effects on DNA methylation. We then describe how epigenetic alterations are being studied in newborns as potential biomarkers of in utero environmental toxicant exposure, and the benefits and challenges of this approach. In summary, the studies highlighted herein indicate how epigenetic mechanisms are impacted by early life exposure to iAs and Pb, and the research that is being done to move towards understanding the relationships between toxicant-induced epigenetic alterations and disease development. Although much remains unknown, several groups are working to understand the correlative and causal effects of early life toxic metal exposure on epigenetic changes and how these changes may result in later development of disease.","PeriodicalId":90260,"journal":{"name":"Medical epigenetics","volume":"2 1","pages":"53-59"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000362336","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32444728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 26

MicroRNA Function in Human Diseases MicroRNA在人类疾病中的功能

Medical epigenetics Pub Date : 2013-11-26 DOI: 10.1159/000356447

S. Natarajan, Mary A. Smith, Cody J. Wehrkamp, Ashley M. Mohr, J. Mott

引用次数: 18

Critical Role of the HP1-Histone Methyltransferase Pathways in Cancer Epigenetics hp1 -组蛋白甲基转移酶通路在癌症表观遗传学中的关键作用

Medical epigenetics Pub Date : 2013-11-01 DOI: 10.1159/000355978

Gabriel Velez, R. Urrutia, G. Lomberk

引用次数: 2

Aberrant DNA Methylation in Breast Cancer Cells 乳腺癌细胞中的异常DNA甲基化

Medical epigenetics Pub Date : 2013-10-25 DOI: 10.1159/000355616

E. Campoy, Sergio R. Laurito, Guillermo Urrutia, M. T. Branham, M. Roqué

{"title":"Aberrant DNA Methylation in Breast Cancer Cells","authors":"E. Campoy, Sergio R. Laurito, Guillermo Urrutia, M. T. Branham, M. Roqué","doi":"10.1159/000355616","DOIUrl":"https://doi.org/10.1159/000355616","url":null,"abstract":"The epigenome is regulated by a large number of macromolecular machines that are dynamically involved in various processes, including DNA methylation, histone modification and non-coding RNA signals, all of them working together to regulate the proper expression of the genome. Thus, in contrast with the genome, whose sequence is carefully conserved during cell life, the epigenome is highly dynamic. The epigenomic modifications are acquired during normal cell differentiation, replicated during mitosis and passed to daughter cells. A fundamental epigenetic attribute is that this plasticity occurs in response to environmental signals. It is therefore now accepted that the environment influences modifications in the cellular transcriptome through the epigenome. In developmental and evolutionary terms, the regulation of gene expression through epigenomic modifications is an advantageous shortcut and a highly conserved mechanism. However, it implies an increased risk for misregulation, as, for example, aberrant epigenomic modifications associate with the development of different human diseases, i.e. lupus, asthma, neurological diseases and cancer. Although epigenetic alterations in breast cancer have been deeply studied and discussed in the last decades, apparently contradictory results are yet often observed. Consequently, in this review, we will briefly discuss the latest findings of aberrant DNA methylation in breast tumorigenesis. Emphasis will be given to the discussion of the idea that different environments could explain paradoxical biological and pathobiological behaviors in individual patients and thus should be taken into consideration for the design and implementation of diagnosis, prognosis and predictive biomarkers.","PeriodicalId":90260,"journal":{"name":"Medical epigenetics","volume":"1 1","pages":"88 - 92"},"PeriodicalIF":0.0,"publicationDate":"2013-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000355616","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64680895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0