Amanda K Jones, Besnik Bajrami, Morgan K Campbell, Abdullah Mesut Erzurumluoglu, Qiusha Guo, Hongxing Chen, Xiaomei Zhang, Svetlana Zeveleva, David Kvaskoff, Andreas-David Brunner, Stefanie Muller, Vasudha Gathey, Rajvee M Dave, James W Tanner, Sophia Rixen, Michel A Struwe, Kathryn Phoenix, Kaitlyn J Klumph, Heather Robinson, Daniel Veyel, Annkatrin Muller, Boris Noyvert, Boris Alexander Bartholdy, Agnes A Steixner-Kumar, Jan Stutzki, Dmitriy Drichel, Steffen Omland, Ryan Sheehan, Jon Hill, Tom Bretschneider, Dirk Gottschling, Axel J Scheidig, Bernd Clement, Martin Giera, Zhihao Ding, John Broadwater, Curtis R Warren
BACKGROUND: Mutations in the gene MTARC1 (mitochondrial amidoxime-reducing component 1) protect carriers from metabolic dysfunction-associated steatohepatitis (MASH) and cirrhosis. MTARC1 encodes the mARC1 enzyme, which is localized to the mitochondria and has no known MASH-relevant molecular function. Our studies aimed to expand on the published human genetic mARC1 data and to observe the molecular effects of mARC1 modulation in preclinical MASH models. METHODS AND RESULTS: We identified a novel human structural variant deletion in MTARC1, which is associated with various biomarkers of liver health, including alanine aminotransferase levels...
May 1, 2024: Hepatology Communications