Until recently, most research focused on studying the causes of diseases linked to “coding” genes—those responsible for protein synthesis. Now, scientists from the University of Exeter and their colleagues have found that diabetes can be caused by changes in the DNA of two genes responsible for producing functional RNA molecules. RNA performs various roles in the body, including regulating gene activity and influencing how genetic information is read and interpreted.

The team used genome sequencing—a method that reads all the letters in a person’s DNA, reports Scientific Russia. They discovered that changes in two genes, known as RNU4ATAC and RNU6ATAC, were responsible for autoimmune neonatal diabetes in 19 children.

Neonatal diabetes is a rare form of diabetes that develops within the first six months of life and is caused by genetic changes. Understanding the cause of this disease opens up opportunities for developing new treatments and improving patient care. The study also helps explain possible causes of a rare condition affecting approximately one in 17 people.

The study’s lead author, Associate Professor Elisa De Franco of the University of Exeter Medical School, said: “We have, for the first time, identified that DNA changes not related to protein coding can cause neonatal diabetes. This highlights the importance of non-coding genes and their potential to cause disease in humans. As up to half of people with rare diseases currently remain undiagnosed, studying non-coding DNA may provide answers for families affected by rare conditions.”

Researchers found that all 19 children had an autoimmune form of diabetes, in which the immune system attacks insulin-producing beta cells that regulate blood sugar levels. The same process occurs in type 1 diabetes. The team used advanced laboratory and computational methods to analyze samples from the children and found that mutations in the two non-coding genes disrupted the function of around 800 other genes, many of which are linked to the immune system.

Dr. James R. Silsby of the University of Exeter, a study author, said: “By combining DNA sequencing results with detailed analysis of patients’ blood samples, we gained a much more complete understanding of how these DNA changes affect cells and lead to diabetes.”

Dr. Matthew Johnson, another author of the study, added: “This discovery is important because it suggests that one or more of these 800 genes play a key role in the development of autoimmune diabetes. This will help advance our understanding of the biology and identify potential drug targets for the more common type 1 diabetes.”

“Although the condition caused by these genetic changes is rare, it provides a unique opportunity to study the mechanisms leading to autoimmune forms of diabetes in humans and to better understand how type 1 diabetes may develop.”