Characterization of STING SAVI Gain of Function Mutations in Mice.
Lupus affects nine times more women than men. One explanation for this SAVI (STING-associated vasculopathy with onset in early infancy) is a disease caused by a mutation in the gene that makes a protein called STING. In patients with SAVI, the STING protein is locked in its “on” position, causing immune cells to be constantly active. These active immune cells create inflammation that damages tissues throughout the body in a manner that is similar in many respects to lupus. While lupus is caused by more complex genetic and environmental factors than SAVI, the STING pathway may also play a role in lupus. Dr. Katherine Fitzgerald is exploring how the mutant STING protein goes rogue to trigger the lupus-like symptoms in mice.
What this study means to people with lupus
By focusing on the simpler model system of a single-gene disease like SAVI, Dr. Fitzgerald will gain new information about the STING pathway that can be applied to develop new treatment approaches for SAVI and lupus patients.