New Mechanism Discovered that Triggers Lupus in Children through Single Mutation

New Mechanism Discovered that Triggers Lupus in Children through Single Mutation


Researchers at the Max Planck Institute for Infection Biology in Berlin have discovered a mechanism that can trigger lupus in children. Lupus is an autoimmune disease that causes severe inflammation throughout the body. The researchers have found that a disruption in a mechanism that regulates the amount of a specific immune receptor can lead to lupus. This receptor is responsible for recognizing the genetic material of pathogens. If the mechanism is disrupted, the receptors accumulate in the immune cells and recognize the body’s own genetic material, leading to the immune system attacking the body and causing the systemic inflammation characteristic of lupus.

The innate immune system, which responds to invading pathogens, must be well-controlled to prevent it from turning against the body itself. The researchers at the Max Planck Institute focused on an immune receptor called Toll-like receptor 7 (TLR7). TLR7 recognizes the genetic material of viruses and bacteria, triggering an immune response against these invaders. To ensure a quick immune response, a certain number of these receptors must be present in the immune cells. The balance is maintained by constant production and degradation of receptors.

Researchers discovered that a protein complex called BORC is required for the degradation of TLR7 within the cell. Another protein, UNC93B1, is needed for the degradation process to occur correctly. If there is an error in this process, the receptors are not degraded and accumulate in the immune cells. Previous experiments on mice had shown that an elevated number of these receptors can lead to the recognition of the body’s own genetic material, triggering an immune response against self and resulting in lupus. However, BORC and UNC93B1 had not been associated with lupus in humans until now.

Collaborating with physicians at the Hospital of the Ludwig Maximilian University of Munich, the researchers identified a lupus patient who had a mutation in the gene for the UNC93B1 protein. This confirmed their findings and led to the publication of their research in the journal Science Immunology. Another research group at the Technical University of Dresden also published their work on UNC93B1 mutations that can trigger lupus in the same journal. The researchers have uncovered a new mechanism that triggers an aggressive form of lupus, with symptoms appearing in infancy.

The discovery of this mechanism could have significant implications for lupus treatment. Currently, doctors mainly focus on suppressing inflammation with drugs. However, by targeting the newly discovered mechanism, it may be possible to prevent the inflammation from developing in the first place, reducing the disease burden for those affected. Testing for mutations in UNC93B1 could become part of lupus treatment, offering new approaches to therapy. The findings of the researchers provide valuable insights into the development and potential treatment of lupus, particularly in children.


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