Aicardi-Goutieres SyndromeSymptoms, Doctors, Treatments, Advances & More
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 practicing medicine in Pavia, Italy. Ms. Orcesi is rated as an Elite expert by MediFind in the treatment of Aicardi-Goutieres Syndrome. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Aicardi-Goutieres Syndrome, Aicardi Syndrome, Premature Infant, and Leukodystrophy.
Reading Hospital
. Dr. Chong is rated as an Advanced provider by MediFind in the treatment of Aicardi-Goutieres Syndrome. He is also highly rated in 28 other conditions, according to our data. His clinical expertise encompasses Tracheobronchopathia Osteoplastica, Idiopathic Dilatation of the Pulmonary Artery, Pulmonary Vein Stenosis, and Craniodiaphyseal Dysplasia. Dr. Chong is board certified in American Board Of Emergency Medicine and American Board Of Radiology.
Reading Hospital
. Dr. Gent is rated as an Advanced provider by MediFind in the treatment of Aicardi-Goutieres Syndrome. He is also highly rated in 25 other conditions, according to our data. His clinical expertise encompasses Bronchogenic Cyst, Pleurisy, Pleural Effusion, and X-Linked Intellectual Disability, Siderius Type. Dr. Gent is board certified in American Board Of Nuclear Medicine and American Board Of Radiology.
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Published Date: September 26, 2024
Published By: National Institutes of Health