The transporter protein ZnT8 (zinc transporter 8), which appears almost exclusively in the pancreas, is involved in the packaging, storage and secretion of insulin in pancreatic beta cells. We found out that there are an exceptionally high number of people in the Ostrobothnia region, who have a rare mutation of the ZnT8 protein gene (rare variant), that is associated with reduced risk of Type 2 diabetes. In the Botnia study we have investigated, how prevalent the mutation of the ZnT8 protein gene is and how it affects insulin and glucose metabolism.
In this collaborative project between Botnia study and Timo Otonkoski lab (Pluripotency and disease modeling), we investigate how the genetic factors related to diabetes affect the function of the cells. The study utilize pluripotent stem cells (PSC). These cells can be produced in laboratory, for example from the cells of a skin biopsy, and be reprogrammed (induced) into pancreatic or muscle cells. Thus, the abbreviation iPSC comes from “Induced Pluripotent Stem Cell”. These iPS cells enable us to examine diseases in tissue cells where the disease occurs (for example in the heart, pancreas or liver), without a need for taking a biopsy from the actual tissue. In the Botnia Study, our main interest are the pancreatic islet cells cultivated from the iPS cells with special focus in their insulin secretion.