Líffræðifélag Íslands - biologia.is
Líffræðiráðstefnan 2019
Erindi/veggspjald / Talk/poster E51
Höfundar / Authors: Kevin Ostacolo, Kristrún Yr Holm, Linda Sooman, Sigridur S Hlynsdottir, Margrét Helga Ögmundsdóttir
Starfsvettvangur / Affiliations: Faculty of medicine, Biomedical center, University of Iceland
Kynnir / Presenter: Kevin Ostacolo
Autophagy is an evolutionarily conserved catabolic process which ensures a level of quality control within the cell and maintains cellular homeostasis. The lab previously identified a rare germline missense variant, D522E, in the essential autophagy gene ATG7 that confers an increased risk of hepatic cancer. This variant is localized in a mammalian specific region of the protein. In order to characterize the function of the variant, stable human hepatocellular carcinoma HuH7 cell lines were generated expressing wild type or variant ATG7. Expression of the variant protein leads to altered cellular function, however, the mechanism of action remains unclear. A mass spectrometry analysis was performed on binding partners of mutant ATG7 protein and wild type, revealing a number of differentially bound proteins. We are currently characterizing these interactions and connected pathways and our results indicate that the D522 residue affects non-autophagy function of the ATG7 protein. Our aim is to further the understanding of the function of ATG7 and the role of autophagy in liver tumorigenesis.