This Rare Gene Mutation May Be Linked to Diabetes in Babies Under Six Months: Study Suggests - Video

A recent study published in the Journal of Clinical Investigation has identified a new genetic cause of neonatal diabetes in infants. The study reveals that mutations in the TMEM167A gene disrupt insulin production in babies diagnosed with diabetes before six months of age.

While it is known that over 85% of neonatal diabetes cases result from genetic mutations, the researchers discovered a previously unidentified link in six babies who also suffered from neurological conditions such as epilepsy and microcephaly. All six were found to have alterations in the TMEM167A gene, prompting further investigation into its role.

To explore the gene’s function, Professor Miriam Cnop’s team at ULB used stem cells that were differentiated into pancreatic beta cells, those responsible for producing insulin. Using CRISPR gene-editing technology, they demonstrated that when TMEM167A is altered, the beta cells activate stress pathways and eventually die, rendering them unable to produce insulin.

Professor Cnop added, “The ability to generate insulin-producing cells from stem cells has enabled us to study what is dysfunctional in the beta cells of patients with rare forms as well as other types of diabetes. This is an extraordinary model for studying disease mechanisms and testing treatments.”

The research confirms that TMEM167A is critical not only for pancreatic function but also for neurons. The discovery opens new avenues for understanding insulin production and could offer valuable insights into broader diabetes research, a condition affecting nearly 589 million people globally.

Reference: Enrico Virgilio et al, Recessive TMEM167A variants cause neonatal diabetes, microcephaly and epilepsy syndrome, Journal of Clinical Investigation (2025). DOI: 10.1172/jci195756