Finding Druggable Pathways Affected by the R90H-NCF1 SLE Risk Variants

Dr. Betty Tsao found a mutation in a specific gene, NCF1, that predicts increased risk for several autoimmune diseases, including lupus. The mutation causes a reduction in the amount of reactive oxygen species (ROS), small chemicals that contain oxygen and other elements that are formed as a normal byproduct of the body’s metabolism. Hydrogen peroxide is one example of an ROS. Interestingly, ROS are normally thought of as troublemakers in the body, causing stress and tissue damage that contribute to many diseases, as well as signs of aging. To understand why a reduction in ROS might lead to lupus, Dr. Tsao will create an animal model with the mutated NCF1 gene. This model will allow her to understand how reduced ROS affects immune system cell function.

What this study means to people with lupus

Ultimately, Dr. Tsao expects to find new targets in the NCF1/ROS pathway for drug development to prevent or treat lupus.