Metabolic-Associated Steatotic Liver Disease and FGF21 Dysregulation in Seipin-Deficient and <i>BSCL2</i>-Associated Celia's Encephalopathy Murine Models.

ABSTRACT: Seipin, a protein encoded by the BSCL2 gene, plays a crucial role in lipid metabolism, and some pathogenic biallelic variants cause lipodystrophy and associated metabolic disorders. This study investigates liver pathology and dysregulation of the FGF21 signalling pathway in two mouse models: Bscl2^-/- (knock-out) and Bscl2^Celia/Celia (knock-in). We evaluated liver histopathology using H&E and Oil red O staining, assessed hepatic triglyceride levels via enzymatic assays, and analyzed gene expression of key FGF21-related components (Fgf21, Ppargc1a, Fgfr1, and Klb) using quantitative real-time PCR. The liver histology was scored using the NAFLD activity score (NAS) system. Both models exhibited hepatic steato

SUBMITTER: Cobelo-Gomez S 

PROVIDER: S-EPMC12732938 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature