How ADAR1 mutation leads to self-destructive inflammation: Genetically modified mouse studies reveal pathways for organ-damaging autoimmune response.

A new study shows how mutation of the ADAR1 gene sets off biochemical pathways that produce an autoimmune response that harms the developing brain and other areas of the body. The normal form of the gene produces an RNA-editing enzyme to stop abnormal immune activation when the body misidentifies its own RNA. Mutations in ADAR1 are common in people of northern European descent. When they co-occur with a second, different mutation, a severe inflammation, that mimics a reaction to a virus, even when none are present, can result.

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