Mitochondrial amidoxime-reducing component 1 p.Ala165Thr increases protein degradation mediated by the proteasome.
Tanmoy DuttaKavitha SasidharanEster CiociolaGrazia PennisiFrancesca R NotoLohitesh KovooruTobias KroonAnna LindblomYue DuMohammad PirmoradianSimonetta WallinRosellina Margherita MancinaDaniel LindénStefano RomeoPublished in: Liver international : official journal of the International Association for the Study of the Liver (2024)
This study shows that alanine at position 165 in MARC1 is crucial for protein stability, and the threonine substitution at this position leads to a hypomorphic protein variant due to lower protein levels. Our result supports the notion that lowering hepatic MARC1 protein level may be a successful therapeutic strategy for treating MASLD.