Aicardi–Goutieres syndrome: from patients to genes and beyond
Article first published online: 8 JAN 2012
© 2011 John Wiley & Sons A/S
Volume 81, Issue 5, pages 413–420, May 2012
How to Cite
Chahwan, C. and Chahwan, R. (2012), Aicardi–Goutieres syndrome: from patients to genes and beyond. Clinical Genetics, 81: 413–420. doi: 10.1111/j.1399-0004.2011.01825.x
- Issue published online: 11 APR 2012
- Article first published online: 8 JAN 2012
- Accepted manuscript online: 12 DEC 2011 10:18AM EST
- Received 25 September 2011, revised and accepted for publication 5 December 2011
- Goutières syndrome;
- neurological disorders;
Chahwan C, Chahwan R. Aicardi–Goutieres syndrome: from patients to genes and beyond.
Aicardi–Goutières syndrome (AGS) is a hereditary neurodegenerative disorder characterized mainly by early onset progressive encephalopathy, concomitant with an increase in interferon-α levels in the cerebrospinal fluid. Although it was initially mistaken for intrauterine viral infections, AGS has now been genetically attributed to a lack of adequate processing of cellular nucleic acid debris, which culminates in the perpetual trigger of the innate and acquired immune responses. Although the exact mechanisms governing AGS are not fully understood, significant strides have been recently achieved in better characterizing the disorder and the molecular functions of the five known proteins found mutated in AGS. Studies have now uncovered that AGS is tightly linked with the predisposition to other autoimmune disorders such as familial chilblain lupus and systemic lupus erythematosus. Moreover, at least two of the proteins mutated in AGS, namely TREX1 and SAMHD1, also seem to have antagonistic roles in safeguarding humans from human immunodeficiency virus (HIV) infections. We hereby synthesize the current developments into the greater framework of AGS and suggest that a better understanding of AGS might help usher a better treatment not only for some autoimmune disorders but also possibly for patients suffering from HIV infections, too.