One of the biggest mysteries in autoimmune disease research is figuring out the causes of autoimmune diseases. Recently, a new study has identified that a mutation of a protein called TNIP1 may be responsible for chronic autoimmune diseases like Sjogren's and more severe diseases like lupus.
This study, led by Dr. Arti Medhavy at The Australian National University, is the first to show that a variation in the TNIP1 protein can cause autoimmune diseases in humans. TNIP1 plays a crucial role in the immune system by managing waste proteins and damaged mitochondria. Genetic materials are generally packaged into specific compartments of cells, including the mitochondria. However, when damaged cells and waste genetic materials are leaked into the body, outside of these compartments, they can trigger an autoimmune response. Long-term exposure to these waste materials is hypothesized to be one of the causes of autoimmune diseases.
Using gene technology, researchers introduced the TNIP1 mutation into mice and found that the mice developed symptoms like those seen in patients with Sjogren's. Researchers also identified the TNIP1 mutation in two patients, one with symptoms of lupus and the other with symptoms of Sjogren's. Although the TNIP1 mutation in the two patients caused different forms of autoimmune disease, both patients had abnormally high levels of IgG4 antibodies. This is interesting since the high levels of IgG4 antibodies in patients could be a biomarker for TNIP1-driven autoimmune disease. Moreover, the identification of this mutation and its biochemical pathway can potentially guide new targeted treatments.
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