TABLE 1.
Diseases with links to altered ADAR activities
| Disease | Description | Reference |
|---|---|---|
| Aicardi-Goutières syndrome | Autosomal recessive genetic encephalopathy, varied ADAR1p150 editing leads to MDA5 being triggered by endogenous nucleic acids | Crow and Rehwinkel 2009; Crow et al. 2020 |
| Rheumatoid arthritis | Increased levels of ADAR1p150 expression → increased editing in Alu repeats | Vlachogiannis et al. 2020 |
| Systemic lupus erythematosus | Higher ADAR1 expression but lower ADAR2 levels → increased RNA editing → creation of edited peptides that are MHC class I epitopes → trigger the IFN response | Roth et al. 2018 |
| Diabetes | Endogenous dsRNA/ADAR inhibition in a mouse model → increased IFN response in pancreatic islet cells | Knebel et al. 2024 |
| Bilateral striatal necrosis | A genetic recessive or dominant dystonic movement disorder due to several mutations in ADAR1 such as Pro193Ala, Ile872Thr, and Gly1007Arg | Livingston and Crow 2016 |
| Dyschromatosis symmetrica hereditaria | Autosomal dominant type I interferonopathy → altered pigmentation due to mutations in ADAR1 | Miyamura et al. 2003; Li et al. 2010; Kono et al. 2016 |
| Spastic paraplegia | Neurodegenerative, lower limb spasticity, seizures, intellectual disability, Gly1007Arg mutation in ADAR1 | Rice et al. 2012 |
