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Finding new pancreas power genes

Project summary

Insulin-making beta cells are powered by energy factories within the cells, called mitochondria. Dr De Franco will look at the genes from babies who have too high or too low blood sugar levels to find genetic changes that alter how mitochondria power beta cells. This could give us a better idea about how mitochondria help to keep blood sugar levels normal and could lead to new and improved treatments for diabetes.  

Background to research

Inside our body cells are mitochondria. They’re like batteries, making energy and powering our cells. Insulin-making beta cells in the pancreas rely on mitochondria to help move insulin out of the cells to control blood sugar levels. 

Some babies are born with changes to their genes that effect how their mitochondria work causing their blood sugar levels to be too high or too low. Genes make messages for our cells. If a gene is changed, it may give out the wrong message to the mitochondria.  

Mitochondria don’t work properly in people with type 2 diabetes either. But scientists don’t yet know which genetic changes are important to keep mitochondria within beta cells working as they should.  

Research aims

Dr De Franco and her PhD student want to improve our understanding of how gene changes affect mitochondria in beta cells.  

To do this, they’ll first study the genes from a rare group of babies who have very high or very low blood sugar levels and other health issues that suggest their mitochondria are not working. They will search for the specific changes in their genes that could be causing mitochondria problems and, in turn, problems with insulin production.  

This information will then be used to test around 10,000 people with likely mitochondrial conditions to see if they have similar findings. This will reveal how often the gene changes they’ve pinpointed cause problems with insulin production and help us to better understand how people with the genes are affected.  

Potential benefit to people with diabetes

The results of these studies could provide a new genetic answer as to why mitochondria in beta cells go wrong.  

If Dr De Franco can find a change in a gene which has caused a specific mitochondrial problem, we can then better understand the messages that lead to insulin being released from beta cells. This new knowledge could lead to new diabetes treatments, particularly for type 2 diabetes. 

Fully funded by Masonic Charitable Foundation
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