Epigenetic Modifications And Human Disease Pdf

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Epigenetics in Human Disease

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. Studies of genotype—phenotype relationships have, nonetheless, challenged clinicians and researchers because some observations are not easily explained.

Role of Epigenetics in Biology and Human Diseases

Chapter Epigenetics is one of the fastest growing fields of sciences, illuminating studies of human diseases by looking beyond genetic make-up and acknowledging that outside factors play a role in gene expression. The goal of this volume is to highlight those diseases or conditions for which we have advanced knowledge of epigenetic factors such as cancer, autoimmune disorders and aging as well as those that are yielding exciting breakthroughs in epigenetics such as diabetes, neurobiological disorders and cardiovascular disease. Where applicable, attempts are made to not only detail the role of epigenetics in the etiology, progression, diagnosis and prognosis of these diseases, but also novel epigenetic approaches to the treatment of these diseases. Chapters are also presented on human imprinting disorders, respiratory diseases, infectious diseases and gynecological and reproductive diseases. Since epigenetics plays a major role in the aging process, advances in the epigenetics of aging are highly relevant to many age-related human diseases. Therefore, this volume closes with chapters on aging epigenetics and breakthroughs that have been made to delay the aging process through epigenetic approaches.

Physical activity in the prevention of human diseases: role of epigenetic modifications

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.

Epigenetics: Development and Disease

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.

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