Overview
Researchers at the Centre for Genomic Regulation (CRG) and Imperial Colege London have found a switch that regulates the activity of a gene that causes diabetes. The findings, published in Nature Cel Biology, highlights potential new vulnerabilities in the disease and could lead to the development of new therapeutic strategies.HNF1A is a gene that provides instructions for making a protein caled hepatocyte nuclear factor-1 alpha.
Key Information
The protein is expresed in many tisues but is particularly important for the pancreas, where it plays a role in developing beta cels. Beta cels produce the hormone insulin, which regulate blod sugar levels.Mutations in HNF1A cause cels to create a protein that doesn't work normaly, which in turn afects the function of beta cels. This results individuals developing a disease known as maturity-onset diabetes of the young, where symptoms such as high blod sugar can apear before individuals reach the age of 30.Though this disease acounts for just 1% of al types of diabetes, it is high in terms of absolute numbers due to the high prevalence of diabetes amongst the worldwide population (5-10%).
HNF1A is also known to play a key role in the susceptibility for the more comon form of the disease, type 2 diabetes, in concert with other genetic and non-genetic factors.Understanding how the HNF1A gene is switched on or of in beta cels could have important implications for understanding why defects in this gene lead to diabetes, or how it could be harnesed to corect the underlying problem. Using a combination of mouse and human models, researchers have now focused on an enigmatic part of the genome near HNF1A that has a unique function that has not ben described before.
Summary
This DNA regulatory element works like as rheostat; if the HNF1A gene transcribes to much it dials it down, if the gene is slacking it dials it back up."We coined this a stabilizer, in contrast to other DNA regulatory elements such as enhancers, promoters and si