New Delhi: An international team of scientists has identified a previously unknown form of diabetes that affects babies under six months of age. Typically, when diabetes develops this early, it is caused by a genetic mutation responsible for over 85 per cent of cases.
Using advanced DNA sequencing and innovative stem cell models, researchers from the University of Exeter in the UK and Université Libre de Bruxelles (ULB) in Belgium discovered mutations in the TMEM167A gene, which are linked to a rare type of neonatal diabetes.
In six affected children who also had neurological disorders such as epilepsy and microcephaly, alterations were found in this gene.
“Finding DNA changes that cause diabetes in babies gives us a unique way to identify the genes that are vital for insulin production and secretion,” explained Dr. Elisa de Franco from the University of Exeter. “This discovery helped clarify the function of the little-known TMEM167A gene and revealed its key role in insulin secretion.”
To explore how the gene works, the scientists used stem cells that were differentiated into pancreatic beta cells along with CRISPR gene-editing technology. They found that when the TMEM167A gene is altered, insulin-producing cells fail to perform their normal functions, triggering stress mechanisms that lead to their death.
“The ability to create insulin-producing cells from stem cells has given us a powerful model to study what goes wrong in rare and other forms of diabetes,” said Professor Miriam Cnop from ULB. “It’s an extraordinary tool for uncovering disease mechanisms and testing potential treatments.”
The findings, published in the Journal of Clinical Investigation, highlight that TMEM167A is crucial for the function of insulin-producing beta cells and neurons, but appears less important for other cell types.
This discovery enhances scientific understanding of how insulin is produced and may open new avenues for research into other forms of diabetes — a condition currently affecting nearly 589 million people worldwide.