Scientists from the University of Exeter, King’s College London (KCL) and Rockefeller University have collaborated to reveal new insight into type 1 diabetes from two siblings with a unique genetic defect.
The findings published in the Journal of Experimental Medicine could help progress the search for new treatments for the chronic disease.
Affecting around 8.4 million people worldwide in 2021, type 1 diabetes, otherwise known as autoimmune diabetes, occurs when the pancreas is unable or not able to properly produce insulin, which causes blood sugar levels to become too high.
The lifelong disease can be a result of a variety of genetic defects that can occur in early childhood.
After studying two siblings diagnosed with a rare genetic form of autoimmune diabetes in the first weeks of life, researchers from the University of Exeter performed whole genome sequencing to look for previously unknown causes of the condition.
Funded by Wellcome, the Helmsley Charitable Trust, Diabetes UK and the US National Institutes for Health, with support from KCL and Rockefeller researchers, the team discovered a mutation in the gene that encodes PD-L1 in the siblings and revealed that it could be responsible for their early-onset autoimmune diabetes.
The samples collected from the siblings were sent to KCL within a crucial ten-hour window for optimal analysis, which was then performed extensively by researchers.
Professor Timothy Tree, study co-author from KCL, said: “We have found that the PD-L1 gene is essential for avoiding autoimmune diabetes but… not essential for ‘everyday’ immune function.”
“To our knowledge, nobody has ever found humans with a disease-causing mutation in the gene encoding PD-L1,” explained study author Dr Matthew Johnson, University of Exeter.
“We now need to work out the ‘communication’ between different cell types that is critical for preventing autoimmune diabetes,” added Tree.
Most recently, in April, the NHS announced its plans to roll out an artificial pancreas over the next five years for patients in England living with type 1 diabetes.
The Hybrid Closed Loop System works to continually monitor patients’ blood glucose while automatically adjusting the amount of insulin given to them through a pump.