Scientists Discover New Type of Diabetes in Babies Linked to TMEM167A Gene

An international team, led by the University of Exeter Medical School and Université Libre de Bruxelles (ULB), has identified a new form of neonatal diabetes caused by mutations in the TMEM167A gene.

• Some babies develop diabetes before six months of age, often due to genetic mutations.

• In six children with additional neurological disorders like epilepsy and microcephaly, researchers found alterations in TMEM167A.

• Using stem cells differentiated into pancreatic beta cells and CRISPR gene editing, scientists discovered that mutations in TMEM167A impair insulin-producing cells, triggering stress responses that lead to cell death.

Key Insights:

• TMEM167A is crucial for insulin secretion and neuronal function, but seems less important for other cell types.

• Understanding this gene could shed light on rare neonatal diabetes and broader mechanisms of insulin production, which may benefit diabetes research globally, a disease affecting nearly 589 million people.