MARC1 in MASLD: Modulation of lipid accumulation in human hepatocytes and adipocytes.

ABSTRACT:

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. Phenome-wide Mendelian Randomization analyses additionally identified novel putatively causal associations between MTARC1 expression, an

SUBMITTER: Jones AK 

PROVIDER: S-EPMC11019821 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature