Naturally Occurring Genetic Variants of Human Caspase-1 Differ Considerably in Structure and the Ability to Activate Interleukin-1β
Publikation: Beitrag in Fachzeitschrift › Forschungsartikel › Beigetragen › Begutachtung
Beitragende
Abstract
Caspase-1 (Interleukin-1 Converting Enzyme, ICE) is a proinflammatory enzyme that plays pivotal roles in innate immunity and many inflammatory conditions such as periodic fever syndromes and gout. Inflammation is often mediated by enzymatic activation of interleukin (IL)-1β and IL-18. We detected seven naturally occurring human CASP1 variants with different effects on protein structure, expression, and enzymatic activity. Most mutations destabilized the caspase-1 dimer interface as revealed by crystal structure analysis and homology modeling followed by molecular dynamics simulations. All variants demonstrated decreased or absent enzymatic and IL-1β releasing activity in vitro, in a cell transfection model, and as low as 25% of normal ex vivo in a whole blood assay of samples taken from subjects with variant CASP1, a subset of whom suffered from unclassified autoinflammation. We conclude that decreased enzymatic activity of caspase-1 is compatible with normal life and does not prevent moderate and severe autoinflammation.
Details
Originalsprache | Englisch |
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Seiten (von - bis) | 122-131 |
Seitenumfang | 10 |
Fachzeitschrift | Human Mutation |
Jahrgang | 34 |
Ausgabenummer | 1 |
Publikationsstatus | Veröffentlicht - Jan. 2013 |
Peer-Review-Status | Ja |
Externe IDs
researchoutputwizard | legacy.publication#51543 |
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Scopus | 84871608014 |
PubMed | 22833538 |
ORCID | /0000-0003-3486-2824/work/151436573 |
Schlagworte
Schlagwörter
- Autoinflammatory, Cytokine, Heterozygous, Homozygous, Procaspase, Rheumatic