Researchers Uncover A Rare Form Of Diabetes In Newborns

Diabetes is a condition that affects a significant part of the world population and it happens when your blood sugar (glucose) is too high. It develops when the pancreas doesn't make enough insulin or any at all, or when the body isn't able to use the insulin effectively. Diabetes can affect people of any and all ages. There are different forms of diabetes such as type 1 diabetes, type 2 diabetes, gestational diabetes, and neonatal diabetes, among others. According to Diabetes UK, neonatal diabetes is a form of diabetes that is diagnosed under the age of six months. It is a different type of diabetes than the more common type 1 diabetes as it's not an autoimmune condition. The condition is caused by a change in a gene which affects insulin production and this leads to high glucose levels in the body.

A recent study has identified a genetic disorder that causes diabetes in some newborns. The study was published in The Journal of Clinical Investigation and was led by the University of Exeter Medical School in collaboration with Université Libre de Bruxelles (ULB) in Belgium, along with other international partners.

The study highlights how the genetic disorder disrupts the cells that make insulins. Researchers have now identified a previously unknown form of diabetes that affects babies. This study focuses on how insulin-producing cells can fail early in life. For the study, the team used cutting-edge DNA sequencing and an advanced stem cell research model.

The team found that mutations in a gene TMEM167A are responsible for this rare type of neonatal diabetes.

Some newborns tend to develop diabetes within the first six months of their life. In a majority of these cases, it is caused due to inherited changes in the DNA. The researchers, for the study, examined six children who not only had diabetes but also showed neurological conditions such as epilepsy and microcephaly. Researchers revealed that all of the six children had mutations in the same gene, TMEM167. And this signs to a single genetic cause behind both the metabolic and neurological symptoms.

To understand the mechanism of how the TMEM167A impacts the body, Professor Miriam Cnop's team at ULB used stem cells which were transformed into pancreatic beta cells. These cells were responsible for making insulin. The team also used gene-editing techniques (CRISPR) to change the TMEM167A gene. The researchers found that when the TMEM167A gene is damaged, the body's insulin-producing cells lose their ability to function normally. Also, when there's stress inside the cells, it activates the internal stress response system, which eventually leads to cell death.

Dr. Elisa de Franco, at the University of Exeter, highlighted the importance of the study findings. She said, "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. 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."

Professor Cnop emphasised the impact of the research. She added, "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."

The researchers say that the findings reveal that the TMEM167A gene is important not only for insulin-producing beta cells but also for neurons. Also, the gene appears to be less important for many other cell types. This insight helps clarify the biological steps involved in insulin production and cell survival.

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