There is no cure for lupus, but researchers are now closer to a genetic explanation for the puzzling condition—thanks to the genome of a child with a rare inherited form of the disease.
is not the only gene implicated in lupus, targeting its activity or protein could help many patients. “is likely to be a central hub, if not the central signaling pathway in lupus,” says Carola Vinuesa, an immunogeneticist at the Francis Crick Institute who led the work, published today in“It’s a great paper,” says Betty Tsao of the Medical University of South Carolina, who studies lupus genetics but was not involved with the research.
At least 200,000 people in the United States have systemic lupus erythematosus , the most common form of the autoimmune disease. Patients can develop skin rashes, joint pain, fatigue, blood clots, kidney failure, heart disease, and psychiatric problems. Lupus is thought to involve both genetics—it runs in families—along with environmental triggers. Patients usually receive immune-suppressing drugs, but these can make them vulnerable to infections.
In 2016, Vinuesa, then at Australian National University, and collaborators came across a 7-year-old Spanish girl named Gabriela who had symptoms of SLE, which is unusual in children. Sequencing Gabriela’s genome revealed a single-base change in the gene for, which encodes a pathogen-detecting protein called toll-like receptor 7 on the surface of multiple types of immune cells, including antibodymaking B cells.
The resulting overproduction of interferon leads to an immune attack on normal cells. But an even more important effect was that the mutant TLR7 protein promotes the survival of B cells that recognize normal cell proteins, leading to the production of self-reactive antibodies to those proteins that harm human tissues. Normally those traitorous B cells are weeded out by the immune system.
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