Manchester BRC researchers published in Nature Genetics - 2012-10-01
Professor Yanick Crow and colleagues from the University of Manchester and Saint Mary’s Hospital have had their paper entitled ‘Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature’, published in Nature Genetics.
The research team, which includes previous Manchester Biomedical Research Centre Research Fellow Dr Tracy Briggs, have shown that mutations in ADAR1 cause the autoimmune condition Aicardi-Goutières syndrome, a genetically determined inflammatory disorder particularly affecting the brain and skin. Furthermore, they observed that the human disease state is associated with an upregulation of interferon stimulated genes, indicating a possible role for ADAR1 as a suppressor of type I interferon. Considering recent insights derived from the study of other AGS-related proteins, the research team speculate that ADAR1 may limit the cytoplasmic accumulation of dsRNA generated from genomic repetitive elements.
Professor Crow explained: “The biochemical activity of ADAR1 has been known for many years. However, ‘why’ ADAR1 does what it does has remained a mystery. Our new findings are very exciting, since they implicate ADAR1 as having a protective function in the control of so-called junk DNA, which in large part is composed of ‘parasitic’ DNA species.“