Eleonora Scorletti, Yedidya Saiman, Sookyoung Jeon, Carolin V Schneider, Delfin G Buyco, Chelsea Lin, Blanca E Himes, Clementina A Mesaros, Marijana Vujkovic, Kate Townsend Creasy, Emma E Furth, Jeffrey T Billheimer, Nicholas J Hand, David E Kaplan, Kyong-Mi Chang, Philip S Tsao, Julie A Lynch, Joseph L Dempsey, Julia Harkin, Susovon Bayen, Donna Conlon, Marie Guerraty, Michael C Phillips, Daniel J Rader, Rotonya M Carr
BACKGROUND & AIMS: Non-alcoholic fatty liver disease (NAFLD) is characterised by the accumulation of lipid droplets (LDs) within hepatocytes. Perilipin 2 (PLIN2) is the most abundant protein in hepatic LDs and its expression correlates with intracellular lipid accumulation. A recently discovered PLIN2 coding variant, Ser251Pro (rs35568725), was found to promote the accumulation of small LDs in embryonic kidney cells. In this study, we investigate the role of PLIN2 -Ser251Pro (PLIN2-Pro251) on hepatic LD metabolism in vivo and research the metabolic phenotypes associated with this variant in humans...
January 2024: JHEP reports: innovation in hepatology