GENOTYPE-PHENOTYPE OF NLRP3 GENETIC MUTATIONS OR POLYMORPHISMS
Makaleler > Tam Makale · 2020
Yazarlar: Afig Bardali, Sırrı Fethi Cham,, Goychak Gurbanbaylı
Zenodo (CERN European Organization for Nuclear Research), Uluslararası, 2020
Özet
Inflammasomes - are the essential part of the natural immune response and are multiple intracellular protein complexes that severely control different aspect of adaptive immunity. Generally, sensory molecules recognize different pathogenic(PAMP)or endogenous sterile distress signals(DAMP)they activate caspase-1 using adapter proteins such as ASC, leading to the processing and release of pro-inflammatory cytokines such as interleukin(IL)-1β and IL-18. NLRP3 inflammasome pathway is known to be the most researched among 7 different inflammasomes. Mutations detected in the NLRP3 gene which encodes the sensor protein chyrphoria, are known to cause 3 different diseases.