Researchers from the University of Exeter Medical School and the Free University of Brussels have identified a previously unknown form of diabetes in infants. The condition is linked to a mutation in the TMEM167A gene, which plays a key role in the function of insulin-producing cells. The findings were published in the Journal of Clinical Investigation (JCI).

Diabetes diagnosed in children under six months of age is typically genetic, with more than 85% of such cases caused by congenital DNA alterations. In the new study, scientists analyzed genetic material from six infants who, in addition to diabetes, also had neurological disorders — epilepsy and microcephaly. All of them carried a mutation in the same gene, TMEM167A.

To understand how this gene contributes to the disease, Professor Miriam Knop’s team used stem cells differentiated into insulin-producing pancreatic beta cells and applied CRISPR genome editing technology. They discovered that when TMEM167A function is disrupted, beta cells lose their ability to produce and release insulin. Moreover, stress mechanisms within the cells become activated, eventually leading to cell death.

“Identifying the genetic mutations that cause diabetes in infants helps us understand which genes play a crucial role in insulin synthesis and secretion,” explained Dr. Elisa De Franco from the University of Exeter. “Through this study, we were able to uncover the function of the previously little-known TMEM167A gene and demonstrate its critical importance for the normal activity of insulin-producing cells.”

The discovery provides new insight into how insulin production is formed and maintained and may represent an important step forward in diabetes research — a disease that currently affects nearly 589 million people worldwide.