Can the discovery of a new protein lead to new treatments for autoimmune diseases?

The mystery of how autoimmune diseases come about continues to unfold as researchers learn more about the various immunological responses and triggers. Scientists at Washington University School of Medicine in St. Louis collaborated with the Perelman School of Medicine at the University of Pennsylvania to identify a protein that drives immune response and overactivity. This protein could be a potential target for new treatments to prevent an overreactive immune response.

Scientists studied a rare autoinflammatory disease called STING-associated vasculopathy with onset in infancy (SAVI), a condition caused by an immune response attacking tissues in the lungs and limbs. The disease is linked to mutations in cells called STING, which usually signals the immune system to generate cytokines (inflammatory cells) in response to the presence of viral DNA. In SAVI patients, the STING cells are overactive, leading to constant immune activity and tissue damage. The researchers discovered that not only do STING cells play a role in generating immune-response proteins, but they also help in releasing those proteins.

By studying the mutations in the STING cells, researchers found that one protein—ArfGAP2—seems to be strongly connected to the release of the cytokines. The link between ArfGAP2 and an immune response was tested on mouse models, where mice were genetically modified to have SAVI without the ArfGAP2 protein. Researchers found that, in those mice, the immune response generally associated with the disease did not occur. It appeared that without the ArfGAP2 protein, STING cells could not drive the release of the immune-response proteins. This is significant in that it paves the way to potential new treatments that block the ArfGAP2 protein and thereby block an autoinflammatory response.

In honor of the last week of Autoimmune Awareness Month, help us celebrate by sharing your autoimmune disease journey. Respond to this email with your diagnostic journey or snap a photo of yourself via Soapboxx and share it on your social media to help raise awareness for autoimmune disease!

To support the Autoimmune Registry, please share our information with others who have autoimmune diseases. Donations are also greatly appreciated!