Learn About Aicardi-Goutieres Syndrome
Aicardi-Goutières syndrome is a disorder with variable signs and symptoms, but it primarily affects the brain, the immune system, and the skin.
Variants (also called mutations) in several genes can cause Aicardi-Goutières syndrome. 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), the replication of cells' genetic material that occurs when the cell is preparing for cell division, DNA repair, cell death (apoptosis), and other processes. The nuclease enzymes produced by genes with variants may not function properly, and some variants may prevent the enzyme from being produced at all. Researchers suggest that this 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. This triggers an immune system reaction that includes the abnormal activation of interferon proteins, which play a critical role in the immune system including regulating inflammation. The abnormal immune response results in encephalopathy, skin lesions, and other signs and symptoms of Aicardi-Goutières syndrome.
Aicardi-Goutières syndrome is a rare disorder. More than 500 people with Aicardi-Goutières syndrome have been described in the scientific literature, though the exact prevalence of the condition is unknown.
Aicardi-Goutières syndrome can have different inheritance patterns. In most cases, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. Autosomal recessive inheritance occurs when Aicardi-Goutières syndrome is caused by variants in the ADAR, LSM11, RNASEH2A, RNASEH2B, RNASEH2C, RNU7-1, SAMHD1, and TREX1 genes. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Simona Orcesi practices in Pavia, Italy. Ms. Orcesi is rated as an Elite expert by MediFind in the treatment of Aicardi-Goutieres Syndrome. Her top areas of expertise are Aicardi-Goutieres Syndrome, Aicardi Syndrome, Premature Infant, and CACH Syndrome.
Yanick Crow practices in Edinburgh, United Kingdom. Ms. Crow is rated as an Elite expert by MediFind in the treatment of Aicardi-Goutieres Syndrome. Her top areas of expertise are Aicardi-Goutieres Syndrome, Perniosis, Spondyloenchondrodysplasia, and Frostbite.
Childrens Health Care Associates Inc
Adeline Vanderver is a Pediatric Neurologist and a Neurologist in Philadelphia, Pennsylvania. Dr. Vanderver is rated as an Elite provider by MediFind in the treatment of Aicardi-Goutieres Syndrome. Her top areas of expertise are Aicardi-Goutieres Syndrome, Leukodystrophy, CACH Syndrome, Pol 3-Related Leukodystrophy, and Gastrostomy.
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Published Date: September 26, 2024
Published By: National Institutes of Health