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Research papers on Epigenetics and disease

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  3. The Key Role of Epigenetics in Human Disease Prevention and Mitigation

    A. Feinberg · 2018 · The New England journal of medicine · 513 citations

    Epigenetics in Disease Prevention and Mitigation Epigenetics is the regulation of gene expression through alterations in DNA or associated factors (other than the DNA sequence). These factors control the diverse manifestations of diseases. Insights into epigenetic modification may lead to new therapies for common diseases.

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  4. The Impact of Nutrition and Environmental Epigenetics on Human Health and Disease

    C. Tiffon · 2018 · International Journal of Molecular Sciences · 381 citations

    Environmental epigenetics describes how environmental factors affect cellular epigenetics and, hence, human health. Epigenetic marks alter the spatial conformation of chromatin to regulate gene expression. Environmental factors with epigenetic effects include behaviors, nutrition, and chemicals and industrial pollutants. Epigenetic mechanisms are also implicated during development in utero and at the cellular level, so environmental exposures may harm the fetus by impairing the epigenome of the developing organism to modify disease risk later in life. By contrast, bioactive food components may trigger protective epigenetic modifications throughout life, with early life nutrition being partic

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  6. The Role of Epigenetics in Autoimmune/Inflammatory Disease

    Anna E. A. Surace, C. Hedrich · 2019 · Frontiers in Immunology · 249 citations

    Historically, systemic self-inflammatory conditions were classified as either autoinflammatory and caused by the innate immune system or autoimmune and driven by adaptive immune responses. However, it became clear that reality is much more complex and that autoimmune/inflammatory conditions range along an “inflammatory spectrum” with primarily autoinflammatory vs. autoimmune conditions resembling extremes at either end. Epigenetic modifications influence gene expression and alter cellular functions without modifying the genomic sequence. Methylation of CpG DNA dinucleotides and/or their hydroxymethylation, post-translational modifications to amino termini of histone proteins, and non-coding

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  7. Epigenetic Regulation of Gene Expression in the Inflammatory Response and Relevance to Common Diseases

    Anthony Gerard Wilson · 2008 · Journal of Periodontology · 224 citations

    Epigenetics can be defined as all the meiotically and mitotically inherited changes in gene expression that are not encoded in the DNA sequence itself. Epigenetic modifications of chromatin and DNA have been recognized as important permissive and suppressive factors in controlling the expressed genome via gene transcription. Two major epigenetic mechanisms are the posttranslational modification of histone proteins in chromatin and the methylation of DNA itself, which are regulated by distinct, but coupled, pathways. It is clear that the epigenetic state is a central regulator of cellular development and activation. Emerging evidence suggests a key role for epigenetics in human pathologies, i

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  9. Epigenetics in liver disease: from biology to therapeutics

    T. Hardy, D. Mann · 2016 · Gut · 157 citations

    Knowledge of the fundamental epigenetic mechanisms governing gene expression and cellular phenotype are sufficiently advanced that novel insights into the epigenetic control of chronic liver disease are now emerging. Hepatologists are in the process of shedding light on the roles played by DNA methylation, histone/chromatin modifications and non-coding RNAs in specific liver pathologies. Alongside these discoveries are advances in the technologies for the detection and quantification of epigenetic biomarkers, either directly from patient tissue or from body fluids. The premise for this review is to survey the recent advances in the field of liver epigenetics and to explore their potential fo

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  11. How epigenetics impacts on human diseases.

    A. Farsetti, B. Illi, C. Gaetano · 2023 · European journal of internal medicine · 145 citations

    Epigenetics is a rapidly growing field of biology that studies the changes in gene expression that are not due to alterations in the DNA sequence but rather the chemical modifications of DNA and its associated proteins. Epigenetic mechanisms can profoundly influence gene expression, cell differentiation, tissue development, and disease susceptibility. Understanding epigenetic changes is essential to elucidate the mechanisms underlying the increasingly recognized role of environmental and lifestyle factors in health and disease and the intergenerational transmission of phenotypes. Recent studies suggest epigenetics may be critical in various diseases, from cardiovascular disease and cancer to

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  12. Smoking induces coordinated DNA methylation and gene expression changes in adipose tissue with consequences for metabolic health

    Pei-Chien Tsai, C. Glastonbury, M. Eliot, et al. · 2018 · Clinical Epigenetics · 139 citations

    Tobacco smoking is a risk factor for multiple diseases, including cardiovascular disease and diabetes. Many smoking-associated signals have been detected in the blood methylome, but the extent to which these changes are widespread to metabolically relevant tissues, and impact gene expression or metabolic health, remains unclear. We investigated smoking-associated DNA methylation and gene expression variation in adipose tissue biopsies from 542 healthy female twins. Replication, tissue specificity, and longitudinal stability of the smoking-associated effects were explored in additional adipose, blood, skin, and lung samples. We characterized the impact of adipose tissue smoking methylation an

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  15. Epigenetics of aging and disease: a brief overview

    C. Pagiatakis, Elettra Musolino, R. Gornati, et al. · 2019 · Aging Clinical and Experimental Research · 100 citations

    Aging is an important risk factor for several human diseases such as cancer, cardiovascular disease and neurodegenerative disorders, resulting from a combination of genetic and environmental factors (e.g., diet, smoking, obesity and stress), which, at molecular level, cause changes in gene expression underlying the decline of physiological function. Epigenetics, which include mechanisms regulating gene expression independently of changes to DNA sequence, regulate gene expression by modulating the structure of chromatin or by regulating the binding of transcriptional machinery to DNA. Several studies showed that an impairment of epigenetic mechanisms promotes alteration of gene expression und

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  16. Translational Perspective on Epigenetics in Cardiovascular Disease

    P. van der Harst, L. D. de Windt, J. Chambers · 2017 · Journal of the American College of Cardiology · 98 citations

    A plethora of environmental and behavioral factors interact, resulting in changes in gene expression and providing a basis for the development and progression of cardiovascular diseases. Heterogeneity in gene expression responses among cells and individuals involves epigenetic mechanisms. Advancing technology allowing genome-scale interrogation of epigenetic marks provides a rapidly-expanding view of the complexity and diversity of the epigenome. In this review, we discuss the expanding landscape of epigenetic modifications and highlight their importance for our future understanding of disease. The epigenome provides a mechanistic link between environmental exposures and gene expression prof

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  18. The prima donna of epigenetics: the regulation of gene expression by DNA methylation.

    K. Santos, T. Mazzola, H. Carvalho · 2005 · Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas · 82 citations

    This review focuses on the mechanisms of DNA methylation, DNA methylation pattern formation and their involvement in gene regulation. Association of DNA methylation with imprinting, embryonic development and human diseases is discussed. Furthermore, besides considering changes in DNA methylation as mechanisms of disease, the role of epigenetics in general and DNA methylation in particular in transgenerational carcinogenesis, in memory formation and behavior establishment are brought about as mechanisms based on the cellular memory of gene expression patterns.

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  20. Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer’s Disease and Frontotemporal Dementia

    C. Fenoglio, E. Scarpini, M. Serpente, et al. · 2018 · Journal of Alzheimer's Disease · 71 citations

    Alzheimer’s disease (AD) and frontotemporal dementia (FTD) represent the first cause of dementia in senile and pre-senile population, respectively. A percentage of cases have a genetic cause, inherited with an autosomal dominant pattern of transmission. The majority of cases, however, derive from complex interactions between a number of genetic and environmental factors. Gene variants may act as risk or protective factors. Their combination with a variety of environmental exposures may result in increased susceptibility to these diseases or may influence their course. The scenario is even more complicated considering the effect of epigenetics, which encompasses mechanisms able to alter the e

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  21. Identification of potential blood biomarkers for Parkinson’s disease by gene expression and DNA methylation data integration analysis

    Changliang Wang, Liang Chen, Yang Yang, et al. · 2019 · Clinical Epigenetics · 70 citations

    Blood-based gene expression or epigenetic biomarkers of Parkinson’s disease (PD) are highly desirable. However, accuracy and specificity need to be improved, and methods for the integration of gene expression with epigenetic data need to be developed in order to make this feasible. Whole blood gene expression data and DNA methylation data were downloaded from Gene Expression Omnibus (GEO) database. A linear model was used to identify significantly differentially expressed genes (DEGs) and differentially methylated genes (DMGs) according to specific gene regions 5′—C—phosphate—G—3′ (CpGs) or all gene regions CpGs in PD. Gene set enrichment analysis was then applied to DEGs and DMGs. Subsequen

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  23. Epigenetic mechanisms of gene expression regulation in neurological diseases

    Monika Goś · 2013 · Acta Neurobiologiae Experimentalis · 45 citations

    Neurological diseases are a heterogenous group of disorders that are related to alterations in nervous system function. The genetic background of neurological diseases is heterogenous and may include chromosomal aberrations, specific gene mutations and epigenetic defects. This review is aimed at presenting of selected diseases that are associated with different epigenetic alterations. The imprinting defects on chromosome 15 are the cause of Prader-Willi and Angelman syndromes that both are characterized by intellectual disability, developmental delay and specific behavioral phenotype. Besides the imprinting defect, these diseases can also be caused by deletion of chromosome 15 or uniparental

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  24. Epigenetic Signaling and Crosstalk in Regulation of Gene Expression and Disease Progression

    Soumen Manna, Jagdish Mishra, Tirthankar Baral, et al. · 2023 · Epigenomics · 33 citations

    Chromatin modifications - including DNA methylation, modification of histones and recruitment of noncoding RNAs - are essential epigenetic events. Multiple sequential modifications converge into a complex epigenetic landscape. For example, promoter DNA methylation is recognized by MeCP2/methyl CpG binding domain proteins which further recruit SETDB1/SUV39 to attain a higher order chromatin structure by propagation of inactive epigenetic marks like H3K9me3. Many studies with new information on different epigenetic modifications and associated factors are available, but clear maps of interconnected pathways are also emerging. This review deals with the salient epigenetic crosstalk mechanisms t

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