Published in:
Open Access
01-11-2013 | Meeting abstract
OR7-006 – Autophagy as a player in inflammation in TRAPS
Authors:
T Bachetti, S Chiesa, P Castagnola, D Bani, E Di Zanni, A Omenetti, A D'Osualdo, A Fraldi, A Ballabio, R Ravazzolo, A Martini, M Gattorno, I Ceccherini
Published in:
Pediatric Rheumatology
|
Special Issue 1/2013
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Excerpt
Tumor Necrosis Factor Receptor (TNFR) Associated Periodic Syndrome (TRAPS) is a dominant autoinflammatory disorder caused by heterozygous mutations in TNFRSF1A, the gene encoding the TNFalpha receptor 1 (TNFR1). TNFRSF1A mutations induce aberrant localization and accumulation in aggregates of the mutant TNFR1 proteins, elevated levels of reactive oxygen species (ROS) and excessive inflammatory response. In accordance to the emerging role of autophagy in inflammatory response, we have recently demonstrated that mutant TNFR1 accumulation is due to a defective autophagy function, the main cellular mechanism involved in the elimination of cellular inclusions containing mutant proteins. …
