Scientists identify new genetic cause of rare diabetes in newborn babies

Researchers in the UK and Belgium have identified a previously unknown genetic cause of a rare form of diabetes that develops in newborn babies, offering new insight into how insulin-producing cells function in early life.

The discovery was made by scientists at the University of Exeter, working alongside colleagues at Belgium’s Université Libre de Bruxelles (ULB). Their research shows that mutations in a little-known gene, TMEM167A, can cause insulin-producing cells in the pancreas to fail shortly after birth.

Using advanced DNA sequencing and stem-cell techniques, the team found that changes in the TMEM167A gene disrupt the normal function of pancreatic beta cells – the cells responsible for making and secreting insulin. When this process breaks down, babies develop a rare condition known as neonatal diabetes.

Dr Elisa De Franco, who led the genetic analysis, said the findings provide a powerful way to understand how insulin secretion works at its most fundamental level.“Finding the DNA changes that cause diabetes in babies gives us a unique way to identify genes that play key roles in making and secreting insulin,” she explained.

One gene, multiple effects

The researchers studied six children who not only had diabetes from birth, but also neurological conditions such as epilepsy or microcephaly (an unusually small head size). All six children were found to carry mutations in the same gene, TMEM167A, pointing to a single genetic cause behind both their metabolic and neurological symptoms.

At ULB, Professor Miriam Cnop and her team transformed stem cells into pancreatic beta cells and then edited the TMEM167A gene. This allowed them to observe directly what happens when the gene is damaged.

They found that faulty TMEM167A leads to stress building up inside insulin-producing cells, eventually causing the cells to stop working and die. Crucially, the research also showed that TMEM167A is essential for healthy neurons, helping to explain why affected children experience neurological symptoms as well as diabetes.

“The ability to generate insulin-producing cells from stem cells has enabled us to study exactly what is going wrong in the beta cells of patients with rare forms of diabetes,”

Professor Cnop said. “This is an extraordinary model for understanding disease mechanisms and testing future treatments.”

Why this matters

While this form of neonatal diabetes is extremely rare, the discovery has wider significance. Studying rare genetic forms of diabetes often sheds light on the core biology of insulin secretion – knowledge that can ultimately inform research into more common types of diabetes as well.

The study, titled ‘Recessive TMEM167A variants cause neonatal diabetes, microcephaly and epilepsy syndrome’, was published in the Journal of Clinical Investigation and supported by Diabetes UK, the European Foundation for the Study of Diabetes, and other partners.

For the diabetes community, these findings are another reminder of how genetics can shape diabetes in very different ways – and how cutting-edge research continues to deepen understanding of insulin, beta cells, and life with diabetes from the very start.

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The author of this blog has type 1 diabetes and uses a CGM on NHS prescription.