In vivo and in vitro characterization of the human ATG16L1 protein and its Crohn's disease associated mutant from T300A

• Applicant: Dr. Petric Kuballa
• Subject Area: Gastroenterology
• Term: from 2008 to 2010
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 64101064

Crohn`s disease (CD) is a disorder of the gastrointestinal tract and represents one of the two major forms of Inflammatory bowel disease, the other being ulcerative colitis. Current findings of independent genetic studies point to a role of autophagy in the development of CD. A point mutation within the ATG16L1 gene, which leads to an amino acid substitution at position 300 (T300A), is associated with a higher risk of developing CD. ATG16L1 is the human homologue of the autophagy protein ATG16 in yeast. In mammals, autophagy is involved in many essential cellular processes and with regards to CD its function in pathogen recognition and elimination is of special interest. The aim of this proposed research project is the biochemical characterization of human ATG16L1 with the goal of understanding the connection between the T300A variant and CD, which may result in the elucidation of new therapeutic approaches. In addition to cell culture studies, mouse models shall help understanding ATG16L1 function.

• DFG Programme: Research Fellowships
• International Connection: USA
• Host: Professor Dr. Ramnik Xavier