In a significant medical breakthrough, a team of scientists from the United Kingdom and Belgium has identified a previously unknown and rare genetic form of diabetes that affects newborn babies. This discovery, hailed as 'groundbreaking', opens new avenues for understanding and potentially treating the condition.
A New Genetic Culprit Identified
The research, a collaboration between the University of Exeter and Belgium's Université Libre de Bruxelles, pinpointed mutations in a specific gene as the cause. Through advanced DNA sequencing and stem cell studies, the team found that defects in the TMEM167A gene lead to the premature failure of insulin-producing cells in the pancreas.
This genetic malfunction was responsible for a diagnosis of neonatal diabetes in six children involved in the study. Notably, all these infants also presented with serious neurological conditions, including epilepsy and microcephaly, indicating the gene's vital role extends beyond the pancreas.
How the Gene Mutation Causes Damage
To understand the mechanism, scientists delved deeper using stem cell research. Their investigation revealed that damage to the TMEM167A gene prevents insulin-producing beta cells from functioning normally. This dysfunction triggers severe cellular stress, ultimately leading to the death of these crucial cells and the onset of diabetes shortly after birth.
The findings, which were published on Saturday 17 January 2026 in The Journal of Clinical Investigation, underscore a critical biological link. The TMEM167A gene is now understood to be essential for both proper insulin production and healthy neuron function in the brain.
Implications for Future Diagnosis and Therapy
This discovery marks the first time this rare genetic form of diabetes has been detected in newborns. It provides a clear genetic explanation for cases where diabetes appears alongside neurological issues very early in life, allowing for more precise diagnosis and genetic counselling for affected families.
Furthermore, by identifying the exact point of failure in the insulin-producing pathway, the research lays a vital foundation for future therapeutic strategies. Scientists believe that understanding this specific genetic disorder could lead to the development of targeted drugs designed to slow or prevent the progression of type 1 diabetes in similar cases, offering hope for new treatments on the horizon.
