An international team of researchers has identified a new form of diabetes in newborns, thanks to advanced DNA sequencing technologies and innovative stem cell models. The breakthrough, led by the University of Exeter Medical School in collaboration with Université Libre de Bruxelles (ULB) and global partners, pinpoints mutations in the TMEM167A gene as the cause of this rare form of neonatal diabetes.
Genetic Clues Behind Early-Onset Diabetes
Some infants develop diabetes before six months of age, often due to genetic mutations. In over 85% of such cases, the condition results from specific changes in DNA. The University of Exeter’s research team identified six children who developed diabetes accompanied by neurological disorders such as epilepsy and microcephaly. Genetic analysis revealed that all six carried mutations in the TMEM167A gene, previously little understood in relation to insulin regulation.
Uncovering TMEM167A’s Role Through Stem Cell Technology
To investigate the gene’s function, Professor Miriam Cnop and her team at ULB used stem cells differentiated into pancreatic beta cells combined with CRISPR gene-editing techniques. Their experiments revealed that when TMEM167A is mutated, insulin-producing beta cells lose their ability to function properly. Consequently, these cells trigger internal stress mechanisms that ultimately lead to their death.
A Unique Insight Into Insulin Production
Dr. Elisa De Franco from the University of Exeter emphasized the importance of this finding:
“Identifying DNA changes that cause diabetes in babies gives us unique insight into the genes vital for insulin production and secretion. Our collaborative work revealed how specific mutations in TMEM167A disrupt insulin secretion, shedding light on a gene that had remained largely unexplored.”
Professor Miriam Cnop added that stem cell-derived models are transforming diabetes research:
“The ability to create insulin-producing cells from stem cells allows us to study what goes wrong in beta cells in rare and common types of diabetes. This model offers an extraordinary opportunity to explore disease mechanisms and test potential treatments.”
Broader Implications for Diabetes Research
As reported by medicalxpress, this discovery establishes that TMEM167A is essential for the normal function of pancreatic beta cells and neurons, while being less critical for other cell types. The findings deepen scientific understanding of insulin regulation and secretion, offering valuable clues for studying other forms of diabetes, a disease that currently affects nearly 589 million people worldwide.
Published Findings and Future Outlook
The study, published in the Journal of Clinical Investigation, represents a major stride in the field of genetic and regenerative diabetes research. By combining genomics with stem cell technology, scientists are moving closer to targeted therapies that could one day prevent or reverse diabetes — even in its rarest and earliest forms.