Scientists at the University of Exeter have identified DNA changes in two non-coding genes, RNU4ATAC and RNU6ATAC, as a cause of autoimmune neonatal diabetes in 19 babies.
Key findings
- First time non-coding genes linked to neonatal diabetes: Unlike most genetic research that focuses on protein-coding genes, this study found mutations in genes that produce functional RNA molecules instead of proteins. These RNA molecules help regulate other genes and how genetic information is interpreted.
- How it was discovered: Using genome sequencing of children worldwide through Exeter’s free genetic testing program for suspected genetic diabetes, researchers found mutations in these two genes disrupted ∼800 other genes, many tied to immune function.
- Disease mechanism: All 19 children had an autoimmune form of diabetes where the immune system attacks insulin-producing beta cells, similar to type 1 diabetes. The mutations appear to disrupt immune pathways.
Why it matters
- Diagnosis: Up to half of people with rare diseases lack a diagnosis. Exploring non-coding DNA could provide answers for more families.
- Treatment potential: Understanding the cause opens possibilities for new treatments and better care for neonatal diabetes.
- Broader implications: One or more of the 800 disrupted genes may play a central role in autoimmune diabetes, potentially revealing new biology and drug targets for the more common type 1 diabetes.
Study details
- Lead: Associate Professor Elisa De Franco, University of Exeter Medical School
- Support: NIHR Exeter Biomedical Research Centre and Exeter NIHR Clinical Research Facility
- Publication: Peer-reviewed, announced April 9, 2026
Dr De Franco noted this shows “the importance of non-protein coding genes and their potential to cause disease in humans.” Dr Matthew Johnson added that while this condition is rare, it gives researchers “a window into the ways type 1 diabetes can develop.