Six infants arrived in the world with an unexpected diagnosis: diabetes before six months old, often alongside epilepsy and unusually small brain size. Doctors had the symptoms but not the answer — until researchers traced the cause back to a single gene.
More than 85% of babies who develop diabetes this early have a genetic cause, but pinpointing which gene is responsible can take years. This time, all six children shared mutations in the same stretch of DNA: TMEM167A, a gene so little-studied that its function was largely a mystery.
Dr. Elisa de Franco and her team at the University of Exeter decided to watch what happens when this gene breaks. Using stem cells transformed into insulin-producing beta cells, they used CRISPR gene-editing to damage TMEM167A and observe the fallout. The cells began to struggle. Stress accumulated inside them. Eventually, they died.
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Start Your News DetoxHow One Gene Controls Two Different Systems
The breakthrough wasn't just identifying the culprit — it was understanding why the same genetic fault damages both the pancreas and the brain. TMEM167A, it turns out, is essential for neurons and insulin-producing cells to survive stress. In most other cell types, the gene matters far less. This explains why these six children experienced both metabolic collapse and neurological symptoms, while the same mutation might leave other tissues unharmed.
"Finding the DNA changes that cause diabetes in babies gives us a unique way to find the genes that play key roles in making and secreting insulin," de Franco said. Professor Miriam Cnop at Université Libre de Bruxelles added that the ability to grow insulin cells from stem cells has opened a new door: "This is an extraordinary model for studying disease mechanisms and testing treatments."
The work, published in The Journal of Clinical Investigation, matters beyond these six children. Nearly 589 million people worldwide live with diabetes in its various forms. Most develop it later in life, through a different combination of genetics and lifestyle. But the mechanisms that go wrong in rare early-onset cases often illuminate the same pathways that fail in common diabetes. Understanding how TMEM167A keeps insulin cells alive could eventually help researchers develop treatments for the far more prevalent forms of the disease.
The next step is watching how this discovery opens new avenues for studying what goes wrong when the body can't produce insulin — and what might be done to fix it.
