In a significant medical breakthrough, a rare genetic form of diabetes affecting newborn babies has been identified for the first time by a team of scientists from the UK and Belgium.
Unravelling a Genetic Mystery
The collaborative research, led by experts at the University of Exeter and Belgium’s Université Libre de Bruxelles (ULB), pinpointed mutations in a specific gene, TMEM167A, as the cause of this rare neonatal condition. The discovery was made after studying six children who presented not only with diabetes but also with neurological issues including epilepsy and microcephaly.
Dr Elisa de Franco from the University of Exeter explained the importance of the find. "Identifying the DNA changes responsible for diabetes in infants provides a unique pathway to uncovering the genes that are crucial for making and secreting insulin," she stated. The fact that all six children shared mutations in the same gene pointed to a single genetic origin for both their metabolic and neurological symptoms.
Stem Cell Research Reveals Cellular Breakdown
To understand the mechanism at play, Professor Miriam Cnop and her team at ULB employed advanced stem cell techniques. They transformed stem cells into pancreatic beta cells, which are responsible for insulin production, and used gene editing to alter the TMEM167A gene.
This pioneering work demonstrated that when the TMEM167A gene is damaged, the insulin-producing cells cease to function normally. "Stress builds in the cells, ultimately leading to cell death," the research confirmed. Professor Cnop highlighted the power of their model, stating, "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. This is an extraordinary model for studying disease mechanisms and testing treatments."
Broader Implications for Medicine
The findings, published on Friday 16 January 2026 in The Journal of Clinical Investigation, reveal that the TMEM167A gene is also vital for neuron function, while being less critical for other cell types. This explains the dual presentation of diabetes and neurological conditions in the affected newborns.
The research paper, titled 'Recessive TMEM167A variants cause neonatal diabetes, microcephaly and epilepsy syndrome', was supported by several organisations including Diabetes UK and the European Foundation for the Study of Diabetes. This landmark discovery not only provides answers for families affected by this rare syndrome but also opens new avenues for understanding the fundamental biology of insulin secretion and potential therapeutic strategies for more common forms of diabetes.
