Aicardi-Goutieres Syndrome Overview
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.
Sutter Valley Medical Foundation
Binh Quach is an Interventional Radiologist and a Radiologist in Yuba City, California. Dr. Quach and is rated as an Experienced provider by MediFind in the treatment of Aicardi-Goutieres Syndrome. His top areas of expertise are Ascites, Pleural Effusion, Pleurisy, Bone Marrow Aspiration, and Thyroidectomy.
Sutter Health - 480 Plumas Care Center
Gemma Saringan is a Family Medicine provider in Yuba City, California. Dr. Saringan and is rated as an Experienced provider by MediFind in the treatment of Aicardi-Goutieres Syndrome. Her top areas of expertise are N-Acetylglutamate Synthase Deficiency, Carbamoyl Phosphate Synthetase 1 Deficiency, Arginase Deficiency, Endoscopy, and Gastrostomy. Dr. Saringan is currently accepting new patients.
Sutter Valley Medical Foundation
Jeffrey Kuo is a Radiologist and a Neuroradiologist in Yuba City, California. Dr. Kuo and is rated as an Experienced provider by MediFind in the treatment of Aicardi-Goutieres Syndrome. His top areas of expertise are Stroke, Headache, Brain Herniation, and Chiari Malformation Type 1.
Background: Amyotrophic lateral sclerosis type 4 (ALS4) is an inherited motor neuron disease. People with ALS4 have a change in the amount of RNA and DNA that bind together. This binding of RNA with DNA forms units called R-loops. Researchers want to learn how R-loops are related to ALS4. To do this, they will study people with inherited neurological conditions that may affect R-loop levels. These include ALS...
Published Date: September 26, 2024
Published By: National Institutes of Health