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.
Yanick Crow is in Edinburgh, United Kingdom. Crow is rated as an Elite expert by MediFind in the treatment of Aicardi-Goutieres Syndrome. She is also highly rated in 37 other conditions, according to our data. Her top areas of expertise are Primary Familial Brain Calcification, Aicardi-Goutieres Syndrome, Spondyloenchondrodysplasia, and Singleton-Merten Syndrome.
Gillian Rice is in Manchester, United Kingdom. Rice is rated as an Elite expert by MediFind in the treatment of Aicardi-Goutieres Syndrome. She is also highly rated in 19 other conditions, according to our data. Her top areas of expertise are Aicardi-Goutieres Syndrome, Primary Familial Brain Calcification, Perniosis, and Singleton-Merten Syndrome.
Adeline Vanderver is a Neurologist and a Child Neurologist in Philadelphia, Pennsylvania. Dr. Vanderver has been practicing medicine for over 24 years and is rated as a Distinguished doctor by MediFind in the treatment of Aicardi-Goutieres Syndrome. She is also highly rated in 22 other conditions, according to our data. Her top areas of expertise are Leukodystrophy, CACH Syndrome, Primary Familial Brain Calcification, and Aicardi-Goutieres Syndrome. She is board certified in Neurology and licensed to treat patients in Pennsylvania. Dr. Vanderver is currently accepting new patients.
Published Date:updated Last, November
Published By: National Institutes of Health