Metabolic activity in the immune cells of patients with primary immunodeficiency was used as a biomarker due to cellular metabolism, which serves as a key regulator in immune cells.
A study at the University of Basel has found that in a distinct subset of immune cells from patients with primary immunodeficiency, cellular respiration is significantly increased. This cellular metabolic overactivity leads to inflammation, according to the study.
Reported in the journal Nature Immunology, the study focused on primary immunodeficiency disorders (PID), which often increases susceptibility to infections and certain tumors. In addition, non-infectious inflammation (autoimmune disease) can also occur more frequently.
The researchers hypothesized that the metabolic activity in the immune cells of patients with PID could serve as a biomarker, since cellular metabolism is a key regulator of the functioning of immune cells. They subsequently found that in the immune cells of a subset of the examined patients with PID, cellular respiration was significantly increased.
Researchers were able to reveal a new kind of disease mechanism from the genetic defeat via mitochondria and back to signal transduction to the nucleus. The increased cellular respiration was triggered by the hyperactivity of a protein in the respiratory chain, which is then signaled to the cells to produce inflammatory mediators. With these findings, the researchers were able to successfully administer a targeted treatment approved for another indication.
According to the study authors, the study is an example of how patient-based research can help to decode disease-causing molecular processes.
This benefits patients, who may receive more targeted and effective medication with fewer adverse effects, according to the study. Further, insights into fundamental biological processes gained from studying rare diseases can also enable new pathophysiological considerations relating to more common diseases, the authors concluded.