New Type of Neonatal Diabetes Identified in Babies

Advances in DNA sequencing and stem cell research have led to the discovery of a novel form of diabetes affecting infants. Researchers from the University of Exeter Medical School, in collaboration with Université Libre de Bruxelles (ULB) and other partners, identified that mutations in the TMEM167A gene are responsible for this rare neonatal diabetes. Some infants develop diabetes before six months of age, with over 85% of cases linked to genetic mutations.

The study focused on six children presenting not only with diabetes but also neurological conditions such as epilepsy and microcephaly. By utilizing stem cells differentiated into pancreatic beta cells and applying gene-editing techniques like CRISPR, the research team demonstrated that alterations in TMEM167A impair insulin-producing cells. These defective cells activate stress responses that lead to their death, contributing to the diabetic condition.

Dr. Elisa de Franco from Exeter highlighted that pinpointing the genetic causes of diabetes in babies offers a new avenue for understanding insulin production's genetic regulation. The research clarified the role of TMEM167A, a previously little-understood gene, showing it is crucial for insulin secretion and neuronal health. The ability to generate insulin-producing cells from stem cells has been instrumental in studying disease mechanisms and testing potential treatments.

The findings suggest that TMEM167A is vital for the proper functioning of insulin-producing pancreatic beta cells and neurons, while appearing less important in other cell types. This discovery enhances our understanding of insulin synthesis and opens pathways for research into other forms of diabetes, which now affects nearly 589 million people globally.

The full study has been published in the Journal of Clinical Investigation. This research marks a significant step forward in understanding the genetic basis of neonatal diabetes and could influence future diagnostic and therapeutic strategies.