Researchers find a genetic signature of type 2 diabetes
Type 2 diabetes (T2D), the most common form of diabetes, is a long-term disorder in which the body does not use insulin properly. This is called insulin resistance. Insulin is a hormone that lets the cells turn glucose from food into energy. There is an abundance of literature about the pathogenesis of T2D. But it remains a mystery why some people develop T2D while others do not.
Until now, over 80 DNA differences have been suggested to associate with T2D. Recently, a team led by Michael Stitzel from The Jackson Laboratory for Genomic Medicine reported that they identified a genetic signature of T2D. They found that genetic variants that increase the risk of T2D were enriched in regions of the genome where transcription Regulatory Factor X (RFX) is predicted to bind. RFX is a master regulator of many genes. The study is the first to show that T2D-associated genetic variants have something to do with RFX.
To better understand the biology of T2D, Stitzel and colleagues examined genomic, epigenomic, and transcriptomic profiles in human pancreatic islets. The analyses showed that a lot of T2D-associated genetic variants seem to influence RFX's ability to attach to specific regions in the genomes of islet cells of the pancreas, which in turn alters the cells' ability to perform their functions.
Pancreatic islets, also called islets of Langerhans, are tiny clusters of cells scattered throughout the pancreas. There are several types of cells in pancreatic islets, including alpha cells that produce glucagon, beta cells that produce insulin and amylin, and delta cells that produce somatostatin. These different cells normally work together to maintain the balance of blood sugar level. In diabetics, however, this balance is disrupted.
According to co-senior author Stephen Parker, a lot of tiny DNA differences that raise T2D risk seem to impair the regulation in islet cells, which in turn contributes to the development of T2D.
Furthermore, mutations in RFX have been found in Mitchell-Riley syndrome, a severe disease characterized by neonatal diabetes and pancreatic hypoplasia. Better understanding RFX's role would lead to a deeper understanding of the mechanism of T2D.
By the way, CusAb can be your good partner in scientific research. The following are RFX related proteins and antibodies.
RFX Recombinant Protein
, RFX Antibody