Mutated T Cell Superenhancers Drive Autoimmune Diseases Like IBD

Mutated T Cell Superenhancers Drive Autoimmune Diseases Like IBD
In a new study entitled “Super-enhancers delineate disease-associated regulatory nodes in T cells,” researchers discovered gene alterations characteristic of autoimmune diseases, such as inflammatory bowel disease or rheumatoid arthritis, are found in genome regions called super-enhancers. The study was published in the journal Nature. Autoimmune diseases are characterized by an exaggerated immune response of the body against one's own tissues in a variety of different locations within the body. For example in rheumatoid arthritis, the affected tissues are joints and in multiple sclerosis, the brain and spinal cord. While it is believed that environmental factors can cause autoimmune disorders, genetic factors are a key player to autoimmunity, since the diseases often occur within families. This resulted in extensive research with the objective to find the genes responsible for the disorder. Notably, researchers reported that the regions within DNA registered as altered in autoimmune disorders is commonly refereed to as the “dark-matter” of the genome, i.e., non coding regions. One of the most frequent regulatory elements in these regions is enhancers — genomic elements that regulate genes usually located across far distances. In this study, a research team led by John J. O'Shea, M.D., National Institute of Arthritis and Musculoskeletal and Skin Diseases hypothesized whether these genetic signatures of autoimmune disorders were located in enhancers. The authors focused on a particular class called superenhancers — a cluster of several enhancers — leading to a powerful increase in their activity. Previous studies reported that indeed disease-genetic signatures were located in these superenhancers' regions, suggesting that problems arise upon
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