Scientists have discovered a previously unknown type of diabetes that develops in babies, opening the door to a better understanding of how the body makes insulin and how diabetes develops.
The breakthrough came from an international collaboration led by researchers at the University of Exeter Medical School in the UK and Université Libre de Bruxelles (ULB) in Belgium.
By using advanced DNA sequencing and stem cell research, the team identified mutations in a gene called TMEM167A as the cause of this rare form of neonatal diabetes.
Neonatal diabetes is a condition in which babies develop diabetes before they are six months old.
In most cases—around 85%—it happens because of a genetic mutation.
The Exeter team studied six children with neonatal diabetes who also had neurological problems, such as epilepsy and microcephaly (a condition where the head is smaller than expected).
They discovered that all of these children had mutations in the TMEM167A gene.
To understand how this gene works, Professor Miriam Cnop and her team at ULB used stem cells and a cutting-edge technique called CRISPR to recreate insulin-producing beta cells in the lab. Normally, these beta cells release insulin to control blood sugar.
But when the TMEM167A gene was altered, the cells could not perform their job. Instead, they activated stress pathways that led to cell death.
Dr. Elisa De Franco, from the University of Exeter, explained that studying DNA mutations in babies offers a unique opportunity.
“Finding the DNA changes that cause diabetes in babies gives us a powerful way to uncover the genes that are essential for making and releasing insulin,” she said.
“In this study, discovering changes in TMEM167A allowed us to show how this little-known gene plays a central role in insulin secretion.”
The discovery is also significant because it shows that TMEM167A is important not only for insulin-producing cells but also for nerve cells, while appearing to be less essential in other types of cells.
This dual role may help explain why the children studied had both diabetes and neurological conditions.
Professor Cnop added that the ability to create insulin-producing cells from stem cells gives researchers an extraordinary model to study diabetes and test future treatments.
With nearly 589 million people worldwide living with diabetes, the findings could also inform research into more common types of the disease.
By better understanding the crucial steps of insulin production, scientists hope to identify new ways to prevent or treat diabetes in the future.
The research was published in the Journal of Clinical Investigation.
If you care about diabetes, please read studies about a cure for type 2 diabetes, and these vegetables could protect against kidney damage in diabetes.
For more health information, please see recent studies about bone drug that could lower risk of type 2 diabetes, and results showing eating more eggs linked to higher risk of type 2 diabetes.
Source: University of Exeter.
