According to the latest reports, a rare gene mutation is offering clues to prevent type 1 diabetes. Here are more details about this below.
Gene mutation offers potential prevention for type 1 diabetes
New reports from Science Alert address a unique genetic mutation that has never been seen in anyone and is able to prevent type 1 diabetes. This has been reportedly discovered by UK researchers at the University of Exeter, and it definitely points the way towards new treatment possibilities for type 1 diabetes.
The mutation is in the gene for a protein that is called programmed death-ligand 1 (PD-L1), and in a new study, there are explanations about how this gene could be responsible for the autoimmune form of diabetes that kids develop at a very young age.
“We searched the globe, looking at all the large-scale datasets that we know of, and we haven’t been able to find another family,” said molecular geneticist Matthew Johnson from the University of Exeter in the UK.
The expert continues and states the following: “These siblings, therefore provide us with a unique and incredibly important opportunity to investigate what happens when this gene is disabled in humans.” The geneticist addressed two siblings aged 10 and 11.
Type 1 diabetes is an autoimmune disease because the immunity attacks pancreatic beta cells and it stops the normal production of insulin.
After conducting a closer analysis of immune cells from two siblings, it was discovered that their unique genetic mutation was preventing the PD-L1 protein from functioning properly. PD-L1 and its PD-1 receptor typically work together to keep the immune system in check. Blocking the functions of PD-L1 through cancer treatments can lead to the development of diabetes.
This suggests that PD-L1 is critical in preventing type 1 diabetes from developing.
However, it was surprising to find out that the immune systems of the two young siblings were operating normally, even without the immune system regulation that PD-L1 and PD-1 normally provide.
“We think that PD-L2, another ligand of PD-1, albeit less well-studied than PD-L1, may be serving as a backup system when PD-L1 is not available,” says physician-scientist Masato Ogishi from the Rockefeller University in New York.
The conclusion was that the PL-D1 protein is crucial to prevent type 1 diabetes.
