NEW DELHI– An international team of researchers has identified a previously unknown form of diabetes affecting babies younger than six months, marking a major breakthrough in understanding how genetic mutations can disrupt insulin production.
The study, conducted by scientists from the University of Exeter in the UK and Université Libre de Bruxelles (ULB) in Belgium, revealed that mutations in the TMEM167A gene are responsible for a rare form of neonatal diabetes. The findings were published in the Journal of Clinical Investigation.
Diabetes diagnosed before six months of age is extremely rare and, in more than 85 percent of cases, results from a genetic mutation. Using advanced DNA sequencing and stem-cell modeling techniques, the research team discovered that six infants carrying TMEM167A mutations also exhibited neurological symptoms such as epilepsy and microcephaly.
“Finding the DNA changes that cause diabetes in babies gives us a unique way to uncover the genes that play essential roles in making and secreting insulin,” said Dr. Elisa de Franco of the University of Exeter. “In this collaborative study, identifying specific DNA changes in six children helped us clarify the function of the little-known TMEM167A gene, which we now know plays a critical role in insulin secretion.”
To better understand the gene’s function, researchers used CRISPR gene-editing to modify stem cells and differentiate them into pancreatic beta cells — the cells responsible for producing insulin. When TMEM167A was disrupted, the cells could no longer perform their function, instead activating stress responses that ultimately led to cell death.
“The ability to generate insulin-producing cells from stem cells has given us an extraordinary model to study disease mechanisms and test potential treatments,” said Professor Miriam Cnop of ULB. “This discovery helps us understand not only rare neonatal diabetes but also mechanisms relevant to more common forms of the disease.”
The researchers found that TMEM167A is vital for the proper functioning of both insulin-producing beta cells and neurons but appears to be less critical in other cell types. The discovery provides new insights into the molecular processes underlying insulin production and could advance future research into diabetes — a condition that currently affects nearly 589 million people worldwide. (Source: IANS)
