Rare genetic type of diabetes detected in new child infants for first time | EUROtoday

A uncommon type of diabetes affecting new child infants and attributable to a genetic dysfunction has been found by scientists within the UK and Belgium.

Researchers on the University of Exeter, alongside scientists in Belgium’s Université Libre de Bruxelles (ULB), discovered {that a} newly recognized genetic dysfunction is inflicting diabetes in new child infants by disrupting the cells which make insulin.

Through DNA sequencing and stem cell analysis, the scientists found how mutations in a sure gene, TMEM167A, can lead insulin-producing cells to fail early in life.

“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,” said Dr Elisa de Franco.

“In this collaborative study, the finding of specific DNA changes causing this rare type of diabetes in 6 children, led us to clarifying the function of a little-known gene, TMEM167A, showing how it plays a key role in insulin secretion.”

The team found that mutations in TMEM167A are responsible for causing what is a rare form of neonatal diabetes.

The scientists tested six children who had not just diabetes but also other neurological conditions, such as epilepsy or microcephaly.

All these children shared mutations in the same gene, indicating there was a single genetic cause behind both the metabolic symptoms – those related to the body’s chemical processes – and the neurological symptoms.

Professor Miriam Cnop of ULB transformed stem cells into pancreatic beta cells, which are responsible for making insulin, and used editing techniques to alter the TMEM167A gene.

By doing so, Prof Cnop’s team showed that when TMEM167A suffers damage, the insulin-producing cells can no longer function normally. Stress builds in the cells, ultimately leading 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,” Prof Cnop stated.

“This is a unprecedented mannequin for learning illness mechanisms and testing therapies.”

The findings additionally reveal that the TMEM167A gene can be essential for neurons, and that it’s much less vital for different cell varieties.

The analysis paper, titled ‘Recessive TMEM167A variants trigger neonatal diabetes, microcephaly and epilepsy syndrome’, appeared in The Journal of Clinical Investigation and was supported by Diabetes UK, European Foundation for the Study of Diabetes, and several other different organisations.