Swedish researchers discover protein involved in rare autoimmune disease

Research Lead

In an EU-funded project, coordinated by Professor Olle Kämpe at Uppsala University in Sweden, scientists have identified a protein that opens new possibilities of understanding both APS-1, rare hereditary disease where the immune system attacks the body’s own organs, and other autoimmune disorders.

The newly discovered protein, NALP5 is the target for immune system attacks on the parathyroid glands in the disease APS-1. This finding will enable researchers to study the first phase of autoimmune disorders in general, where immune cells, instead of attacking alien bacteria and viruses, erroneously attack the body’s own tissue.

The protein functions as a target for the immune cells in humans, but also in animal models for the disease that have the same genetic defect as APS-1 patients.

“This means now, for the first time, we will be able to compare the immune defence with exactly the same target protein in humans and in an animal model,” says Mohammad AliMohammadi at the Department of Medical Sciences, Uppsala University, who made the discovery.

The parathyroid glands by regulate the body’s calcium balance. The researchers say the discovery of NALP5 could lead to the development of drugs and treatments for diseases producing disturbances in the calcium balance, such as osteoporosis.

In patients with APS-1 the parathyroid glands can be knocked out at a very young age, leading to severe, untreatable, cramp attacks. If the disease is not diagnosed it often leads to death. The new discovery also makes it possible to diagnose the disease early, so that patients can receive the appropriate treatment.