P465L-PPARγ mutation confers partial resistance to the hypolipidaemic action of fibrates.

ABSTRACT:

Aims

Familial partial lipodystrophic syndrome 3 (FPLD3) is associated with mutations in the transcription factor PPARγ. One of these mutations, the P467L, confers a dominant negative effect. We and others have previously investigated the pathophysiology associated with this mutation using a humanized mouse model that recapitulates most of the clinical symptoms observed in patients who have been phenotyped under different experimental conditions. One of the key clinical manifestations observed, both in humans and mouse models, is the ectopic accumulation of fat in the liver. With this study we aim to dissect the molecular mechanisms that contribute to the excessive accumulation of lipids in the liver and characterize the negative effect of this PPARγ mutation on the activity of PPAR

SUBMITTER: Rodriguez-Cuenca S 

PROVIDER: S-EPMC6589924 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature