An international team has discovered a new type of diabetes in infants using cutting-edge DNA sequencing technologies and a novel model for stem cell research.
To determine that TMEM167A gene mutations are responsible for a rare form of neonatal diabetes, the University of Exeter Medical School collaborated with Université Libre de Bruxelles (ULB) in Belgium and other partners. Before they reach the age of six months, some infants develop diabetes.
This is the result of a DNA mutation in over 85% of cases. Six children with additional neurological disorders, including epilepsy and microcephaly, had alterations in a single gene: TMEM167A, according to research conducted by the University of Exeter. Professor Miriam Cnop’s team used gene editing techniques (CRISPR) and differentiated stem cells into pancreatic beta cells to comprehend its function. They discovered that insulin-producing cells cease to function when the TMEM167A gene is altered. After that, they start stress responses that end in death.
Dr. “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,” stated Elisa de Franco of the University of Exeter. We were able to clarify the function of a little-known gene, TMEM167A, and demonstrate how it plays a crucial role in insulin secretion thanks to the findings of specific DNA changes that caused this rare type of diabetes in six children in this collaborative study. “We have been able to study what is dysfunctional in the beta cells of patients with rare forms as well as other types of diabetes,” stated Professor Cnop.
“The ability to generate insulin-producing cells from stem cells has enabled us to study this.” This is an extraordinary model for testing treatments and studying disease mechanisms.”
This finding demonstrates that the TMEM167A gene is necessary not only for neurons but also for insulin-producing beta cells, whereas it appeared to be indispensible for other cell types. These findings may shed light on the study of other forms of diabetes, which currently affects almost 589 million people worldwide, and help us gain a better understanding of the crucial steps in insulin production.