Aicardi-Goutières syndrome is a disorder that mainly affects the brain, the immune system, and the skin.

Mutations in several genes can cause Aicardi-Goutières syndrome. Several of these genes, the TREX1, RNASEH2A, RNASEH2B, and RNASEH2C genes, provide instructions for making nucleases, which are enzymes that help break down molecules of DNA and its chemical cousin RNA when they are no longer needed. These DNA and RNA molecules or fragments may be generated during the first stage of protein production (transcription), copying (replication) of cells' genetic material in preparation for cell division, DNA repair, cell death (apoptosis), and other processes. Mutations in any of these genes are believed to result the absence or abnormal functioning of the respective nuclease enzyme. Researchers suggest that absent or impaired enzyme function may result in the accumulation of unneeded DNA and RNA in cells. The unneeded DNA and RNA may be mistaken by cells for the genetic material of viral invaders, triggering immune system reactions in multiple body systems that result in encephalopathy, skin lesions, and other signs and symptoms of Aicardi-Goutières syndrome.

Aicardi-Goutières syndrome is a rare disorder. Its exact prevalence is unknown.

Aicardi-Goutières syndrome can have different inheritance patterns. In most cases caused by mutations in the ADAR, TREX1, RNASEH2A, RNASEH2B, RNASEH2C, and SAMHD1 genes, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Published Date: November 01, 2017Published By: National Institutes of Health