Astrocytes, an active player in Aicardi-Goutières syndrome.

摘要: Aicardi-Goutieres syndrome (AGS) is an early-onset, autoimmune and genetically heterogeneous disorder with severe neurologic injury. Molecular studies have established that autosomal recessive mutations in one of the following genes are causative: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1 IFIH1/MDA5. The phenotypic presentation pathophysiology AGS associated over-production cytokine Interferon-alpha (IFN-α) its downstream signaling, characterized as type I interferonopathy. Astrocytes major source IFN central nervous system (CNS) it proposed they could be key players pathology. most ubiquitous glial cell CNS perform a number crucial complex functions ranging from formation blood-brain barrier, maintaining ionic homeostasis, metabolic support to synapse elimination healthy CNS. Involvement astrocytic dysfunction neurological diseases-Alexander's disease, Epilepsy, Alzheimer's amyotrophic lateral sclerosis (ALS)-has been well-established. It now known compromised function can contribute abnormalities neurodegeneration, nevertheless, contribution unclear. current review discusses molecular cellular pathways for how stimulates IFN-α signaling. We shed light on astrocytes might presentations emphasize cell-autonomous non-cell-autonomous role astrocytes. Understanding will help reveal mechanisms underlying interferonopathy develop targeted astrocyte specific therapeutic treatments AGS.