Daijiworld Media Network - New Delhi

New Delhi, Oct 9: In a significant breakthrough, an international team of scientists has identified a new, rare form of neonatal diabetes affecting babies under six months of age. The condition has been traced to mutations in a previously little-known gene, TMEM167A, which plays a crucial role in insulin production.

Led by researchers from the University of Exeter (UK) and Université Libre de Bruxelles (ULB), the study used advanced DNA sequencing and stem cell research models to uncover the genetic cause of diabetes in six infants, all of whom also had neurological disorders such as epilepsy and microcephaly.

“Finding the DNA changes that cause diabetes in babies gives us a unique way to discover genes vital to insulin production and secretion,” said Dr. Elisa de Franco from the University of Exeter.

Using CRISPR gene-editing and stem cells differentiated into pancreatic beta cells, the team demonstrated that when TMEM167A is mutated, insulin-producing cells become dysfunctional. These cells then activate internal stress responses, ultimately leading to their death.

“The ability to generate insulin-producing cells from stem cells has allowed us to uncover what goes wrong in rare and common forms of diabetes,” explained Professor Miriam Cnop of ULB. “It’s a powerful model for both understanding disease and testing new treatments.”

Published in the Journal of Clinical Investigation, the research also revealed that while TMEM167A is essential for the health of pancreatic beta cells and neurons, it appears to be non-essential in many other cell types.

This discovery deepens scientific understanding of insulin production and could open new avenues for treating other forms of diabetes—an increasingly prevalent disease affecting an estimated 589 million people worldwide.

The study not only highlights the importance of early genetic diagnosis in infants showing signs of diabetes but also offers promising directions for future therapeutic strategies targeting beta cell survival and function.