LONDON April 30. 2024 (Saba) - British researchers at the University of Exeter discovered a unique genetic mutation in two brothers with type 1 diabetes that had never been seen in any human, paving the way towards new treatment options for the disease.
The journal Science Alert, which recently published the study, reported that the mutation in the programmed cell death 1 (PD-L) protein gene plays an important role in regulating the immune system, and may be responsible for the autoimmune form of diabetes that afflicts children at a very young age.
Molecular geneticist Matthew Johnson, from the University of Exeter in the UK, said: “The two brothers provide us with a unique and very important opportunity to investigate what happens when this gene is inactivated in humans.”
Type 1 diabetes is known as "autoimmune diabetes" because of the way the immune system attacks pancreatic beta cells, stopping the production of natural insulin. Patients must inject insulin regularly to control blood sugar levels.
The two brothers, who were ten and 11 years old at the time of the study, developed diabetes in the first weeks of their lives.
A careful analysis of immune cells confirmed that a unique genetic mutation prevented the PD-L1 protein from working properly.
Z.E
resource : Saba
| more of (International) |