Diabetes and insulinomatosis - the role of a novel germline mutation
Dr Iacovazzo is studying a rare type of diabetes that occurs at the same time as tumours appear in the pancreas. Previous research has found a specific genetic mutation that may be behind this condition, and this study aims to confirm whether this is the case.
If successful, this project will improve our understanding of this rare condition and help to identify people at risk of developing it.
Background to research
Monogenic diabetes is a rare condition, different from both Type 1 and Type 2 diabetes. It’s caused by a mutation in a single gene, and if a parent has this mutation, their children have a 50 per cent chance of inheriting it.
Dr Iacovazzo is studying a rare type of monogenic diabetes, which is associated with the appearance of tumours within the pancreas that release insulin (a separate condition known as insulinomatosis). The cause of insulinomatosis, and how it develops, is currently unknown.
He has collected biological samples and information from two families living with this unusual condition, and has sequenced their DNA. In doing so, he identified a mutation in the gene called MAFA, which plays an important role in the production of insulin and appears to be the likely cause.
In his experiments so far, he has found that the mutant MAFA protein (that the gene codes for) appears to be more active than the normal version.
Dr Iacovazzo plans to explore the biology behind this new type of monogenic diabetes and insulinomatosis, to understand why they’re linked and how this condition develops. To do this, he will study the mutant MAFA protein in the laboratory, to find out whether it functions differently to the normal protein.
He will work with people that have the MAFA mutation, to find out how they process glucose. He will also try to establish how many people have this mutation and tumours within their pancreas.
Potential benefit to people with diabetes
This research will provide important insights into the impact this rare mutation has on insulin-producing beta cells found in the pancreas, and how this relates to the development of both diabetes and pancreatic tumours.
It will also allow people carrying this rare mutation to be identified, so that they can receive the best care possible.