Variants in NLRP3 and NLRC4 inflammasome associate with susceptibility and severity of Multiple Sclerosis

Publication date: Available online 11 January 2019Source: Multiple Sclerosis and Related DisordersAuthor(s): Jaine LS SOARES, Enedina ML OLIVEIRA, Alessandra PONTILLOAbstractBackgroundMultiple sclerosis (MS) is a neurodegenerative disease of central nervous system (CNS) with autoimmune and inflammatory characteristics, and a still uncertain pathogenesis. Early events as well as evolution of MS are heterogeneous (three main clinical forms) and multifactorial. Genome-wide association studies indicates that MS pathogenesis shares features with both autoimmune and inflammatory diseases. Innate immunity has been recently proved to be an important factor in MS. Genetic variants in inflammasome components have been associated with both autoimmune and neurodegenerative diseases, letting us hypothesize that inflammasome, and related cytokines IL-1ß and IL-18, could represent important contributors in MS pathogenesis, and eventually explain, at least in part, the heterogeneity observed in MS patients.Aimto evaluate the contribution of inflammasome in MS, in term of (a) genetic effect on development, severity and/or prognosis, and (b) complex activation in peripheral blood as a measure of systemic inflammation.MethodsFunctional genetic variants in inflammasome components were analysed in a cohort of MS patients, by the use of allele specific assays and qPCR. Multivariate analysis was performed based on clinical form (recurrent remittent/RR, primary progressive/PP or secondary progressi...
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research