Scientists have discovered a new type of diabetes in babies

The study, published in the Journal of Clinical Investigation, was made possible through the use of advanced DNA and stem cell sequencing technologies.

Experts have found that rare mutations in the TMEM167A gene cause neonatal diabetes, a form of the disease that manifests itself in the first six months of life. In most infants who suffer from neonatal diabetes, the disease is linked to genetic abnormalities. The current study analysed the cases of six children who had both diabetes and additional neurological disorders - including epilepsy and microcephaly. All were found to have a mutation in the same gene - TMEM167A.

To investigate its role, Professor Miriam Knop's ULB team used stem cells differentiated into insulin-producing pancreatic beta cells and CRISPR gene editing technology. The scientists found that when the TMEM167A gene is disrupted, the beta cells lose their ability to function normally, activate cellular stress mechanisms and eventually die.

"Identifying DNA mutations that cause diabetes in infants allows us to understand which genes are critical for insulin synthesis and secretion," notes Dr Elisa de Franco from the University of Exeter. - "In this study, TMEM167A mutations in six children helped uncover the role of this little-known gene in insulin metabolism."

Professor Knop emphasises:

"The ability to create beta cells from stem cells provides a unique opportunity to investigate how rare and common forms of diabetes develop. It is a crucial model for studying disease mechanisms and evaluating the efficacy of new treatment approaches."

The discovery highlights that TMEM167A is essential not only for the normal function of insulin-producing beta cells but also for neuronal function, while its role is not as critical for other cell types.

This study contributes to the understanding of the key biological processes underlying diabetes and may help in the development of new diagnostic and therapeutic methods. Today, nearly 589 million people worldwide live with diabetes, and discoveries such as these are of particular importance for the future of medicine.