Scientists Identify Rare Genetic Diabetes in Newborns for First Time

A rare genetic form of diabetes affecting newborns has been identified by researchers in the United Kingdom and Belgium. Scientists at the University of Exeter and Université Libre de Bruxelles (ULB) uncovered a genetic disorder that disrupts insulin production in infants. This groundbreaking discovery sheds light on how specific genetic mutations can lead to significant metabolic and neurological conditions early in life.

The research team employed DNA sequencing and stem cell techniques to pinpoint the role of the TMEM167A gene. Mutations in this gene were found to impair the function of insulin-producing cells, leading to diabetes in affected newborns. 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 focused on six children who presented both diabetes and neurological issues, such as epilepsy and microcephaly, all sharing mutations in the TMEM167A gene.

The significance of this research lies in its potential to clarify the relationship between metabolic and neurological symptoms, indicating a shared genetic cause. Professor Miriam Cnop from ULB led efforts to transform stem cells into pancreatic beta cells, which are crucial for insulin production. By utilizing gene editing technology on the TMEM167A gene, her team demonstrated that damage to this gene results in dysfunctional insulin-producing cells. Stress accumulates in these cells, ultimately leading to their death.

Implications for Diabetes Research

The findings offer a new perspective on the mechanisms behind rare forms of diabetes and their impact on the nervous system. “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,” Professor Cnop stated. This innovative approach serves as a powerful model for investigating disease mechanisms and testing potential treatments.

Moreover, the research highlights the role of the TMEM167A gene beyond insulin production. It is also essential for neuronal function, while its importance appears to diminish in other cell types. This discovery may open new avenues for understanding not just diabetes but also various neurological disorders.

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 support from organizations including Diabetes UK and the European Foundation for the Study of Diabetes, emphasizing the collaborative nature of this significant scientific endeavor.

As the medical community continues to explore the implications of this research, the hope is that it will lead to better diagnostic tools and treatment strategies for infants affected by this rare genetic condition.