Researchers identify single point mutation that causes lupus

Lupus is an autoimmune disease in which the immune system does not normally attack its own healthy tissues and organs. The cause of lupus has long been a mystery, there is no cure, and current treatments focus on reducing symptoms. According to a study published in the journal Nature, researchers believe they have identified a single point mutation that causes lupus. Previous research has linked lupus to the TLR7 gene. The Spanish girl Gabriela Piqueras developed lupus symptoms at the age of 5. The researchers identified a single point mutation in her genome and used CRISPR gene editing technology to reproduce this in mice. A mutation can cause it to develop lupus symptoms. This mutation increases the immune system’s sensitivity to guanine, one of the building blocks of DNA and RNA. This results in the infection sensor being turned on in the absence of viral RNA. TLR7 is located on the X chromosome, which could explain why women are more likely than men to develop lupus.

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