Search results
Results from the WOW.Com Content Network
Aicardi–Goutières syndrome (AGS), which is completely distinct from the similarly named Aicardi syndrome, is a rare, usually early onset childhood, inflammatory disorder most typically affecting the brain and the skin (neurodevelopmental disorder).
Aicardi syndrome is a non-progressive condition and in itself does not lead to any deterioration, but various complications mean that there is an increased mortality associated with the syndrome. Very little is known about the long-term prognosis, but there are occasional reports that the epilepsy may become milder with increasing age.
The disease is caused in 60% of cases by a mutated gene called CIAS1 that is known to be involved in other syndromes that appear somewhat similar, such as Muckle–Wells syndrome and familial cold urticaria. In many patients, the parents do not have the same mutation, indicating the problem was not inherited, even though it is a genetic disease.
Different mutations in the TREX1 gene have also been identified in people with disorders involving the immune system. These disorders include a chronic inflammatory disease called Aicardi-Goutieres syndrome, as well as systemic lupus erythematosus (SLE), including a rare form of SLE called chilblain lupus that mainly affects the skin.
It is very often a mutation that somehow influences the expression/function of IFNs. In the case of Aicardi-Goutieres syndrome 7 (AGS7), the gain-of-function mutation in a sensor molecule in the RNA-sensing pathway leads to both spontaneous and enhanced ligand-induced IFN-β transcription. [2]
Aicardi–Goutières syndrome; AIDS dysmorphic syndrome; ... Life expectancy 1950-2005.svg 860 × 522; 21 KB This page was ...
RNASEH2B gene knockout in mice, leads to early embryonic lethality, hence genetically engineered mice with a premature stop codon in exon 7 Rnaseh2b was created. [7] It was hypothesized that growth arrest was a consequence of a p53-dependent DNA damage response associated with the accumulation of single RN in genomic DNA.
An eponymous disease is a disease, disorder, condition, or syndrome named after a person, usually the physician or other health care professional who first identified the disease; less commonly, a patient who had the disease; rarely, a literary character who exhibited signs of the disease or an actor or subject of an allusion, as characteristics associated with them were suggestive of symptoms ...