Archive · 16 Jan 2026
Rare Neonatal Diabetes Linked to TMEM167A Gene
Scientists have found a rare type of diabetes that affects babies.
This type of diabetes is caused by a change in a gene called TMEM167A.
The researchers studied six children who had diabetes and other neurological problems like epilepsy.
They found that all these children had a problem in the same gene.
This gene is important for making insulin, which helps control sugar levels in the body.
When this gene is damaged, the cells that make insulin don't work properly and can die.
This discovery helps us understand how diabetes can develop in babies and how this gene is also important for brain cells.
The researchers used special techniques like DNA sequencing and stem cell research to make this discovery.
Researchers identified a rare form of neonatal diabetes caused by mutations in the TMEM167A gene.
The study involved six children with diabetes and neurological conditions like epilepsy and microcephaly.
Mutations in the TMEM167A gene disrupt insulin-producing cells and lead to high glucose levels.
The research used advanced techniques like DNA sequencing, stem cell models, and CRISPR gene editing.
The findings highlight the importance of the TMEM167A gene in both insulin production and neurological functions.
- Who
- Researchers from the University of Exeter and Université Libre de Bruxelles
- What
- Identified a rare form of neonatal diabetes caused by mutations in the TMEM167A gene
- When
- Recently published in The Journal of Clinical Investigation
- Where
- Study conducted in collaboration with international partners
- Why
- To understand the genetic causes of neonatal diabetes and its impact on insulin production and neurological conditions
- Gene Identified
- TMEM167A
- Condition
- Neonatal Diabetes
- Symptoms
- High glucose levels, neurological conditions
- Research Method
- DNA sequencing, stem cell research, CRISPR gene editing
- Study Participants
- Six children with diabetes and neurological conditions
- Research Institutions
- University of Exeter, Université Libre de Bruxelles
- Journal
- The Journal of Clinical Investigation