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Dataset Information

Sirtuin3 promotes the degradation of hepatic Z alpha-1 antitrypsin through lipophagy.


ABSTRACT:

Background

Alpha-1 antitrypsin deficiency (AATD) is a genetic disease caused by misfolding and accumulation of mutant alpha-1 antitrypsin (ZAAT) in the endoplasmic reticulum of hepatocytes. Hepatic ZAAT aggregates acquire a toxic gain-of-function that impacts the endoplasmic reticulum which is theorized to cause liver disease in individuals with AATD who present asymptomatic until late-stage cirrhosis. Currently, there is no treatment for AATD-mediated liver disease except liver transplantation. In our study of mitochondrial RNA, we identified that Sirtuin3 (SIRT3) plays a role in the hepatic phenotype of AATD.

Methods

Utilizing RNA and protein analysis in an in vitro AATD model, we investigated the role of SIRT3 in the pathophysiology of AATD-mediated liver disease while al

SUBMITTER: Poole B 

PROVIDER: S-EPMC10830086 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature