The team identified mutations in the TMEM167A gene, which is linked to neonatal diabetes. Six children with neurological disorders, including epilepsy and microcephaly, were found to have alterations in this gene. Researchers say these changes disrupt insulin production, causing the diabetes.

To study the gene’s role, stem cells were converted into pancreatic beta cells, and CRISPR gene-editing techniques were used. When the TMEM167A gene was altered, the insulin-producing cells failed to function and triggered stress responses leading to cell death. This model helped researchers understand how insulin production fails in this rare diabetes.

The findings, published in the Journal of Clinical Investigation, show that TMEM167A is essential for insulin-producing beta cells and neurons. The discovery provides new insight into how insulin is produced and may guide research into other types of diabetes, which currently affects nearly 589 million people globally.

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