title: Diverse epigenetic mechanisms of human disease.
abstract: Epigenetic control of gene expression programs is essential for normal organismal development and cellular function. Abrogation of epigenetic regulation is seen in many human diseases, including cancer and neuropsychiatric disorders, where it can affect disease etiology and progression. Abnormal epigenetic profiles can serve as biomarkers of disease states and predictors of disease outcomes. Therefore, epigenetics is a key area of clinical investigation in diagnosis, prognosis, and treatment. In this review, we give an overarching view of epigenetic mechanisms of human disease. Genetic mutations in genes that encode chromatin regulators can cause monogenic disease or are incriminated in polygenic, multifactorial diseases. Environmental stresses can also impact directly on chromatin regulation, and these changes can increase the risk of, or directly cause, disease. Finally, emerging evidence suggests that exposure to environmental stresses in older generations may predispose subsequent generations to disease in a manner that involves the transgenerational inheritance of epigenetic information.
authors.affiliation: Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115.
authors.forename: Emily
authors.initials: E
authors.lastname: Brookes
authors.forename: Yang
authors.initials: Y
authors.lastname: Shi
mesh_terms: D002843:Chromatin; D044127:Epigenesis, Genetic; D030342:Genetic Diseases, Inborn; D006801:Humans; D009369:Neoplasms / Q000235:genetics*
chemical_list: D002843:Chromatin
keywords: cancer; chromatin; fetal programming; neurodevelopment; transcription