Damaging mutations in LXRα uncouple lipogenesis from hepatotoxicity and implicate hepatic cholesterol sensing in human liver health
Sam M. Lockhart, Milan Mušo, Ilona Zvetkova, Brian Lam, Alessandra Ferrari, Erik Schoenmakers, Katie Duckett, Jack Leslie, Beatriz Romartínez-Alonso, John A. Tadross, Raina Jia, Eugene J. Gardner, Katherine A. Kentistou, Yajie Zhao, Felix R. Day, , Stephen O’Rahilly
This study identifies damaging LXRα mutations linked to reduced triglycerides but increased liver enzyme levels and hepatotoxicity, suggesting LXR's role in liver health and cautioning against its inhibition for MASLD treatment.
bioRxiv · Apr 28, 2024 · PreprintGenetics