Autophagy receptor CALCOCO2/NDP52 takes center stage in Crohn disease |
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| Authors: | Andreas Till Simone Lipinski David Ellinghaus Gabriele Mayr Suresh Subramani Philip Rosenstiel Andre Franke |
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| Affiliation: | 1.Institute of Clinical Molecular Biology; Christian-Albrechts-University of Kiel; Kiel, Germany;2.Subramani Lab and San Diego Center for Systems Biology; University of California San Diego; La Jolla, CA USA |
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| 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. |
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| Keywords: | Crohn disease autophagy CALCOCO2 NDP52 inflammation NF-kappaB toll-like receptor adaptophagy |
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