A New Type of Diabetes Discovered in Infants 0 55

An international team of scientists from the UK and Belgium has identified a new type of diabetes in newborns for the first time, linked to a mutation in the TMEM167A gene. The study, published in the Journal of Clinical Investigation (JCI), showed that this change disrupts the function of pancreatic β-cells responsible for insulin production, leading to their death.

Researchers from the University of Exeter and the Free University of Brussels used CRISPR technology and stem cells to precisely trace how the gene affects cellular processes. It turned out that TMEM167A is important not only for insulin production but also for the normal functioning of neurons — affected children also exhibited neurological disorders, including epilepsy and microcephaly.

The authors emphasize that the discovery of this rare type of diabetes will help to better understand the mechanisms of insulin secretion and may lead to the development of new treatments for neonatal and other forms of diabetes, which currently affect nearly 600 million people worldwide.