Autophagy receptor CALCOCO2/NDP52 takes center stage in Crohn disease.

Authors:
Andreas Till, Simone Lipinski, David Ellinghaus, Gabriele Mayr, Suresh Subramani, Philip Rosenstiel, Andre Franke
Year of publication:
2013
Volume:
9
Issue:
8
Issn:
1554-8627
Journal title abbreviated:
AUTOPHAGY
Journal title long:
Autophagy
Impact factor:
9.108
Abstract: 
To advance understanding of the complex genetics of Crohn disease (CD) we sequenced 42 whole exomes of patients with CD and five healthy control individuals, resulting in identification of a missense mutation in the autophagy receptor calcium binding and coiled-coil domain 2 (CALCOCO2/NDP52) gene. Protein domain modeling and functional studies highlight the potential role of this mutation in controlling NFKB signaling downstream of toll-like receptor (TLR) pathways. We summarize our recent findings and discuss the role of autophagy as a major modulator of proinflammatory signaling in the context of chronic inflammation.