Epigenetic Modifications And Human Disease Pdf

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Epigenetics: Development and Disease

Metrics details. Epigenetic modification refers to heritable changes in gene function that cannot be explained by alterations in the DNA sequence. The current literature clearly demonstrates that the epigenetic response is highly dynamic and influenced by different biological and environmental factors such as aging, nutrient availability and physical exercise. As such, it is well accepted that physical activity and exercise can modulate gene expression through epigenetic alternations although the type and duration of exercise eliciting specific epigenetic effects that can result in health benefits and prevent chronic diseases remains to be determined. Epigenetic changes represent flexible genomic parameters that can modify genome function and also provide a mechanism that allows for the stable propagation of gene activity status from one generation of cells to the next [ 2 ]. Initially, epigenomic processes were considered unidirectional, but recent studies have demonstrated that the epigenome is highly dynamic and changes in response to biological factors such as development and aging processes or under the influence of exogenous factors such as nutrient availability and physical exercise [ 3 , 4 ]. Many studies have been performed in the last two decades to better understand this epigenetic modulation, and results to date suggest that this phenomenon is intricately linked to cellular processes such as DNA repair, differentiation and stress events, as well as the progression and treatment of many chronic and degenerative diseases including cancer [ 1 , 5 , 6 ].

For a long time, scientists have tried to describe disorders just by genetic or environmental factors. However, the role of epigenetics in human diseases has been considered from a half of century ago. In the last decade, this subject has attracted many interests, especially in complicated disorders such as behavior plasticity, memory, cancer, autoimmune disease, and addiction as well as neurodegenerative and psychological disorders. This review first explains the history and classification of epigenetic modifications, and then the role of epigenetic in biology and connection between the epigenetics and environment are explained. Furthermore, the role of epigenetics in human diseases is considered by focusing on some diseases with some complicated features, and at the end, we have given the future perspective of this field.

Metabolic chronic diseases, also named noncommunicable diseases NCDs , are considered multifactorial pathologies, which are dramatically increased during the last decades. Noncommunicable diseases such as cardiovascular diseases, obesity, diabetes mellitus, cancers, and chronic respiratory diseases markedly increase morbidity, mortality, and socioeconomic costs. Moreover, NCDs induce several and complex clinical manifestations that lead to a gradual deterioration of health status and quality of life of affected individuals. Multiple factors are involved in the development and progression of these diseases such as sedentary behavior, smoking, pollution, and unhealthy diet. Indeed, nutrition has a pivotal role in maintaining health, and dietary imbalances represent major determinants favoring chronic diseases through metabolic homeostasis alterations.

Epigenetic modifications and human disease

Thank you for visiting nature. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer. In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript. Epigenetics is one of the most rapidly expanding fields in biology. The recent characterization of a human DNA methylome at single nucleotide resolution, the discovery of the CpG island shores, the finding of new histone variants and modifications, and the unveiling of genome-wide nucleosome positioning maps highlight the accelerating speed of discovery over the past two years.

Genetic causes for human disorders are being discovered at an unprecedented pace. A growing subclass of disease-causing mutations involves changes in the epigenome or in the abundance and activity of proteins that regulate chromatin structure. This article focuses on research that has uncovered human diseases that stem from such epigenetic deregulation. Disease may be caused by direct changes in epigenetic marks, such as DNA methylation, commonly found to affect imprinted gene regulation. Also described are disease-causing genetic mutations in epigenetic modifiers that either affect chromatin in trans or have a cis effect in altering chromatin configuration. The last two decades have witnessed unparalleled success in identifying the genetic bases for hundreds of human disorders and, more recently, via sequencing, the whole exome or genome.

Role of Epigenetics in Biology and Human Diseases

Epigenetics is the phenomenon which fine tunes the processes associated with life, beyond that which is specified by the sequence of the genetic material; DNA. The covalent modification of DNA, DNA associated histones, several non histone proteins as well as non coding RNA coherently operate to establish the epigenetic regulation of gene expression in physiological and pathophysiological conditions. This volume presents contributions from worldwide experts presenting their research and findings, including: the evolution of epigenetic machineries from archaea to higher eukaryotes; role of epigenetics in development and transcription regulation; epigenetic landscape of human disease; a chemical biology approach to understanding epigenetic phenomena; exploration of different small molecules as epigenetic therapies. This volume is aimed at students and researchers of chromatin biology and epigenetics and will also be of interest to a broader pharmaceutical audience.

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5 Response
  1. Taciano R.

    Cytosine guanine dinucleotide CpG island methylation is a known mechanism of epigenetic inheritance in postmeiotic cells.

  2. Todd C.

    The most widely studied epigenetic modification in humans is cytosine methylation. DNA methylation occurs almost exclusively in the context of.

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