Topic: ADAR1

Mutations in Adenosine deaminase acting on RNA (ADAR1) give rise to Aicardi-Goutières syndrome 6 (AGS6) a severe autoimmune disease characterized by inflammatory encephalopathy that presents within the first year of life. Some of the signs of AGS6 are microcephaly, calcifications in basal ganglia and other brain regions, abnormalities in the white matter tracts, excess lymphocytes in the cerebrospinal fluid (CSF) and increased interferon-alpha activation. Adar∆2-13 mutant mice lacking the Adar1 protein have aberrant high-level interferon expression and are embryonically lethal (E12.5). Adar∆2-

Adenosine Deaminases Acting on RNA (ADAR) enzymes catalyse the conversion of adenosine (A) to inosine (I) within double-stranded RNA (dsRNA) molecules. This mechanism, known as A-I RNA editing, is able to modulate gene expression, RNA stability and protein function.Recently, new therapeutic approaches based on site-directed RNA editing (SDRE) leverage the recoding ability of ADAR to correct pathogenic G to A nucleotide mutations. SDRE allows for the manipulation of genetic information without causing damage to the genome. G-to-A point mutations make up nearly 30% of the pathogenic single nucle