What diseases are affected by epigenetics?

Human illnesses' genetic causes are being identified at an unprecedented rate. Changes in the epigenome or the amount and activity of proteins that govern chromatin shape are an increasing subclass of disease-causing mutations. The focus of this article is on research that has discovered human diseases caused by epigenetic dysregulation. Direct changes in epigenetic markers, such as DNA methylation, have been identified to impact imprinted gene regulation and may cause disease. Disease-causing genetic alterations in epigenetic modifiers that change chromatin in Trans or have a cis effect on chromatin conformation are also described. Epigenetic modifications cause human illnesses such as Fragile X syndrome, Angelman's syndrome, Prader-Willi syndrome and some cancers.

Your cells all have the same genes, yet they look and behave differently. Epigenetics helps define the function a cell will have as you grow and develop, such as whether it will become a heart cell, neuron cell, or skin cell. Despite that epigenetics does not include changes in DNA sequence; it can nonetheless alter heritable gene expression through a variety of processes such as DNA methylation, chromatin modifications and non-coding RNA. Anomalies in DNA methylation are a common cause of illness. Imprinting illnesses like the Angelman, SilvereRussell, PradereWilli and BeckwitheWiedemann syndromes, for example, are frequently linked to changes in DNA methylation.

However, human diseases caused by DNA methylation-based imprinting defects are not confined to these inherited diseases; diabetes, schizophrenia, autism, and cancer have all been linked to imprinting abnormalities. As evidenced by the rare ImmunodeficiencyeCentromere instabilityeFacial anomalies (ICF) syndrome caused by mutations in DNA methyltransferase 3B, abnormalities of the enzymes that mediate DNA methylation can potentially contribute to disease (DNMT3B). Rett syndrome, which is caused by mutations in the methyl-binding domain (MBD) protein MeCP2, causes gene expression dysregulation and neurodevelopmental disorder. DNA methylation abnormalities whether hypomethylated or hypermethylated, can frequently contribute to cancer.