An international team of scientists has identified a previously unrecognized form of diabetes affecting infants, a discovery that sheds new light on how insulin-producing cells can fail early in life. This hidden type of diabetes in newborns is caused by mutations in a specific gene, often presenting alongside neurological issues, challenging long-held assumptions about the disease’s origins.
The groundbreaking research, led by the University of Exeter Medical School in collaboration with Université Libre de Bruxelles (ULB) and other global partners, pinpointed mutations in the TMEM167A gene as the culprit. This finding not only explains a perplexing medical mystery but also suggests a critical link between metabolic and brain development from birth.
Understanding this rare condition provides a unique lens into the broader mechanisms of diabetes. The insights gained could influence the study and treatment of more common forms of the disease, which currently affects an estimated 589 million people worldwide, according to the International Diabetes Federation.
Genetic mechanisms behind early-onset diabetes
For decades, clinicians observed some infants developing diabetes within their first six months, often with no clear genetic explanation. The new study meticulously examined six children who not only had early-onset diabetes but also presented with neurological conditions like epilepsy and microcephaly. All six shared mutations in the TMEM167A gene, as reported by ScienceDaily.com on January 14, 2026.
To unravel how the TMEM167A gene impacts the body, Professor Miriam Cnop’s team at ULB utilized stem cells. They transformed these cells into pancreatic beta cells, crucial for insulin production, and employed gene-editing techniques like CRISPR to alter the TMEM167A gene. Their experiments revealed that when TMEM167A is damaged, insulin-producing cells lose their normal function, leading to internal stress and eventual cell death.
Dr. Elisa de Franco, from the University of Exeter, emphasized the significance of these findings. She stated that identifying these specific DNA changes in babies allows researchers a unique pathway to uncover genes critical for insulin production and secretion. This collaborative effort has clarified the vital role of the previously little-known TMEM167A gene in maintaining healthy insulin function.
Broader implications for diabetes research
The discovery of this hidden type of diabetes in newborns extends beyond rare diseases. Researchers now understand that the TMEM167A gene is crucial for both insulin-producing beta cells and neurons, yet appears less vital for many other cell types. This specificity helps clarify the biological pathways involved in insulin secretion and cell survival, offering a more precise understanding of cellular dysfunction.
Professor Cnop highlighted the versatility of their stem cell models. She noted that the ability to generate insulin-producing cells from stem cells provides an extraordinary model for studying disease mechanisms, not just for rare forms but also for other types of diabetes. This approach allows for the testing of potential treatments in a controlled environment, accelerating therapeutic development.
The findings, published in The Journal of Clinical Investigation, could significantly inform studies into more common forms of diabetes. By understanding the intricate genetic factors at play in early life, scientists hope to unlock new strategies for prevention, early diagnosis, and more effective treatments for diabetes across all age groups.
This research, supported by organizations including Diabetes UK and the European Foundation for the Study of Diabetes, marks a pivotal step. It moves us closer to a future where the complex origins of diabetes, particularly its early manifestations, are fully understood, paving the way for targeted interventions that could transform patient outcomes globally.
