Genetics, TREX1 Mutations

Excerpt

TREX1 is a widely expressed protein that acts as part of the SET complex in granzyme A-mediated apoptosis to degrade single-stranded DNA. TREX1 encodes a 3'-exonuclease 1 protein that removes nucleotides from the 3' ends of DNA molecules to remove unneeded fragments that may form during DNA replication. The TREX1 gene has also been found to play a role in immune regulation and viral infection. Research has found that mutations in this gene correlate with many diseases, including Aicardi-Goutieres syndrome (AGS), systemic lupus erythematosus (SLE), familial chilblain lupus (FCL), Cree encephalitis, cryofibrinogenemia, and retinal vasculopathy with cerebral leukodystrophy (RVCL). In this activity, we will outline features of these various diseases and describe the role of TREX1 genes in the pathophysiology of these diseases.