論文の公開元へClinical and serological features of dermatomyositis and systemic lupus erythematosus patients with autoantibodies to ADAR1
概要
Adenosine deaminase acting on RNA-1 (ADAR1) is an RNA-editing enzyme which catalyzes the deamination of adenosine to inosine in double-stranded RNA substrates during post-transcription processing [1]. ADAR1 has two isoforms from alternative spliced transcripts. The long form of human ADAR1, ADAR1-p150 (150 kDa), is interferon-inducible and is mainly expressed in the cytoplasm, while the shorter form, ADAR1-p110 (110 kDa), is constitutively expressed in the nucleus, especially the nucleolus (Figure 1A) [2, 3]. The entire amino acid sequence of ADAR1-p110 is included in ADAR1-p150. Although both forms are enzymatically active, ADAR1-p150 is thought to play a role in antiviral response mechanisms [1]. We previously reported ADAR1 as the causative gene of dyschromatosis symmetrica hereditaria, an inherited pigmentary disorder, which we determined by positional cloning [4]. ADAR1 mutations also cause Aicardi–Goutières syndrome, which is a fatal auto-inflammatory disease with an aberrant type I interferon response [4]. Although ADAR1 has been considered in the context of human autoimmunity, the autoimmune response to ADAR1 has not been reported. In this study, we found serum autoantibodies to ADAR1 in patients with dermatomyositis (DM) (Case 1) and systemic lupus erythematosus (SLE) (Case 2), in which a pathogenetic role for type I interferon is implicated [5]. The present study was approved by the ethics committee of the Nagoya University Graduate School of Medicine.
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