A rare genetic form of diabetes affecting newborn babies has been identified by researchers from the University of Exeter in the UK and Université Libre de Bruxelles (ULB) in Belgium. This breakthrough discovery highlights how mutations in the TMEM167A gene disrupt insulin-producing cells, leading to early-onset diabetes. This finding marks the first time such a condition has been documented in infants.
Through advanced DNA sequencing and stem cell research, the team uncovered that specific mutations in the TMEM167A gene are responsible for neonatal diabetes. According to Dr. Elisa de Franco, one of the lead researchers, “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.” The study involved six children diagnosed not only with diabetes but also with additional neurological issues, including epilepsy and microcephaly.
The researchers noted that all six children shared mutations in the TMEM167A gene, suggesting a common genetic origin for both their metabolic and neurological symptoms. This discovery underscores the complexity of genetic disorders and their multifaceted impacts on health.
Stem Cell Research Unlocks New Insights
In a significant development, Professor Miriam Cnop at ULB transformed stem cells into pancreatic beta cells, which are crucial for insulin production. By employing gene editing techniques, her team demonstrated that damage to the TMEM167A gene impairs the normal functioning of these insulin-producing cells. The resulting cellular stress ultimately leads to cell death.
“The ability to generate insulin-producing cells from stem cells has enabled us to study what is dysfunctional in the beta cells of patients with rare forms as well as other types of diabetes,” said Professor Cnop. This innovative model allows for a deeper understanding of disease mechanisms and facilitates the testing of potential treatments.
The findings also indicate that the TMEM167A gene plays a vital role in the function of neurons, while its significance appears lower in other cell types. This dual function of the gene may explain the combination of diabetes with neurological conditions in affected individuals.
Publication and Support for Research
The research paper detailing these findings, titled “Recessive TMEM167A variants cause neonatal diabetes, microcephaly and epilepsy syndrome,” was published in the Journal of Clinical Investigation. The study received funding and support from several organizations, including Diabetes UK and the European Foundation for the Study of Diabetes.
As the understanding of genetic conditions continues to evolve, this research exemplifies the critical intersection between genetics and disease management, promising new avenues for treatment and intervention in neonatal diabetes.
