Increased Understanding Of Genetic Risk Factor For Type 1 Diabetes

Diabetes is one of the most common diseases worldwide, and it is estimated that about 346 million people suffer from this disease. Diabetes is a condition in which the pancreas no longer produces enough insulin or cells stop responding to the insulin that is produced, so that glucose in the blood cannot be absorbed into the cells of the body. Symptoms include frequent urination, lethargy, excessive thirst, and hunger. The treatment includes changes in diet, oral medications, and in some cases, daily injections of insulin. There are two types of diebetes, diabetes I can be genetically passed on, while diabetes 2 is mostly accumulated through obesity. Scientists in Joslin Diabetes Center are trying to find some more answers to understanding  the genetic risk factor for type I diabetes. Joslin scientists in the Section of Immunobiology seek to understand how genes that are most widely associated with various autoimmune diseases contribute to disease risk. One of these genes is PTPN22, which plays a role in lymphocyte (immune cell) function. A PTPN22 variant (or mutation) has been implicated as a risk factor for type 1 diabetes and several other autoimmune disorders. PTPN22 is involved in the formation of a key protein known as lymphoid tyrosine phosphatase (LYP), which helps control the activity of T and B cells in the immune system. The PTPN22 mutation generates a variation of LYP with a different molecular structure. They wanted to try anther model, which they decided to mimic diabetes in a mouse and it was sucessful. There is still more research being done, and as we speak the mystery of diabetes may no longer be a mystery.