Scientists Discover Novel Hidden Diabetes Type in Newborn Infants - Video

One sneaky gene mutation silently destroys newborn insulin factories-while simultaneously scrambling their developing brains.

University of Exeter Medical School and Belgium's Université Libre de Bruxelles just cracked open a medical mystery: TMEM167A gene mutations cause a brand-new form of neonatal diabetes. Published in The Journal of Clinical Investigation, their landmark study of 6 infants proves this single DNA defect triggers BOTH skyrocketing blood sugar AND devastating brain problems like epilepsy and microcephaly—before babies even hit 6 months old.

The crisis: Neonatal diabetes strikes ~1 in 100,000 newborns (far earlier than Type 1). Over 85% trace to genetic causes. These 6 cases stood out—kids had diabetes PLUS neurological red flags. Researchers sequenced every child's DNA and found identical TMEM167A mutations across all patients.

Lab work:

1. Skin → Stem cells: Converted patient skin cells into insulin-producing pancreatic beta cells

2. CRISPR attack: Gene-edited TMEM167A out of these lab-grown beta cells

3. Disaster unfolded: Mutant cells STOPPED secreting insulin → toxic stress exploded inside → self-destruct pathways activated → complete beta cell death

Key findings that rewrite diabetes science:

• TMEM167A = "guardian gene" for insulin secretion AND neuron survival

• Mutations hit pancreas + brain hardest (spares most other tissues)

• Stem cell models PERFECTLY recreated patient cell failure

• Dr. Elisa de Franco: "These DNA changes decode TMEM167A's vital role"

• Professor Miriam Cnop: "Lab beta cells = diabetes cure testing ground"

With 589M adults diabetic worldwide, TMEM167A stress pathways could unlock Type 1/2 treatments too.

This isn't just rare baby diabetes—it's a roadmap showing exactly how insulin factories fail under genetic attack. Future CRISPR therapies could rescue newborn pancreases while guiding common diabetes fixes. One tiny gene mutation unlocks massive metabolic secrets for everyone from fragile infants to aging adults.

REFERENCE: Enrico Virgilio, Sylvia Tielens, Georgia Bonfield, et. al.; Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome. Journal of Clinical Investigation, 2025; 135 (22) DOI: 10.1172/JCI195756