A missense variant in human perilipin 2 (<i>PLIN2</i> Ser251Pro) reduces hepatic steatosis in mice.

ABSTRACT:

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.

Methods

For our animal model, we used Plin2 knockout mice in which we expressed either human PLIN2-Pro251 (Pro251 mice) or wild-type human PLIN

SUBMITTER: Scorletti E 

PROVIDER: S-EPMC10701134 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature