Role of Genetic Alterations in the NLRP3 and CARD8 Genes in Health and Disease

The complexity of a common inflammatory disease is influenced by multiple genetic and environmental factors contributing to the susceptibility of disease. Studies have reported that these exogenous and endogenous components may perturb the balance of innate immune response by activating the NLRP3 in...

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Bibliographic Details
Published in:Mediators of Inflammation 2015-01, Vol.2015 (2015), p.500-509-447
Main Authors: Paramel, G.V, Sirsjo, A, Fransen, K
Format: Article
Language:English
Subjects:
Alzheimer's disease
Animals
Biomedicin
Biomedicine
CARD Signaling Adaptor Proteins - genetics
CARD8
Carrier Proteins - genetics
Disease susceptibility
Gene expression
Genes
Genetic aspects
Genetic Predisposition to Disease
Genomes
Health aspects
Heart attacks
Humans
inflammasome
Inflammasomes - metabolism
Inflammation
Inflammatory Bowel Diseases - genetics
Inflammatory diseases
Interleukins
Mutation
Neoplasm Proteins - genetics
NLR Family, Pyrin Domain-Containing 3 Protein
NLRP3
Observations
polymorphism
Proteins
Review
Studies
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Summary:The complexity of a common inflammatory disease is influenced by multiple genetic and environmental factors contributing to the susceptibility of disease. Studies have reported that these exogenous and endogenous components may perturb the balance of innate immune response by activating the NLRP3 inflammasome. The multimeric NLRP3 complex results in the caspase-1 activation and the release of potent inflammatory cytokines, like IL-1β. Several studies have been performed on the association of the genetic alterations in genes encoding NLRP3 and CARD8 with the complex diseases with inflammatory background, like inflammatory bowel disease, cardiovascular diseases, rheumatoid arthritis, and type 1 diabetes. The aim of the present review is therefore to summarize the literature regarding genetic alterations in these genes and their association with health and disease.
ISSN:0962-9351
1466-1861
1466-1861
DOI:10.1155/2015/846782