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Research Article: Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome

Date Published: 2025-02-21

Abstract:
Background: Aicardi-Goutières syndrome (AGS) is a rare monogenic type I interferonopathy characterized by dysregulated inflammation and tissue damage that primarily affects the central nervous system. AGS is genetically diverse, with pathogenic variants across multiple genes, including TREX1, which drives excessive type I interferon (IFN) production.

Introduction:
Objective: This study investigated the genetic and molecular mechanisms underlying AGS in a family of two affected children, focusing on the role of TREX1 variants in protein expression and dysregulation of the interferon pathway.

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