Experimental Models to Investigate PNPLA3 in Liver Steatosis DOI
Alireza Ramandi,

Anna‐Mae Diehl,

Danny Issa

et al.

Liver International, Journal Year: 2025, Volume and Issue: 45(5)

Published: April 15, 2025

ABSTRACT Patatin‐like phospholipase domain‐containing 3 (PNPLA3) was the first gene identified through genome‐wide association studies to be linked hepatic fat accumulation. A missense variant, encoding PNPLA3‐148M allele, has since been shown increase risk for full spectrum of steatotic liver disease (SLD), from simple steatosis steatohepatitis, cirrhosis, and hepatocellular carcinoma. Despite extensive validation this ongoing research into its pathogenic role, precise mechanisms by which contributes progression SLD remain poorly understood. In review, we evaluate preclinical in vitro vivo models used investigate PNPLA3 involvement SLD, with particular emphasis on metabolic dysfunction‐associated disease. We assess strengths limitations these models, as well challenges arising species differences expression function between human murine systems.

Language: Английский

Experimental Models to Investigate PNPLA3 in Liver Steatosis DOI
Alireza Ramandi,

Anna‐Mae Diehl,

Danny Issa

et al.

Liver International, Journal Year: 2025, Volume and Issue: 45(5)

Published: April 15, 2025

ABSTRACT Patatin‐like phospholipase domain‐containing 3 (PNPLA3) was the first gene identified through genome‐wide association studies to be linked hepatic fat accumulation. A missense variant, encoding PNPLA3‐148M allele, has since been shown increase risk for full spectrum of steatotic liver disease (SLD), from simple steatosis steatohepatitis, cirrhosis, and hepatocellular carcinoma. Despite extensive validation this ongoing research into its pathogenic role, precise mechanisms by which contributes progression SLD remain poorly understood. In review, we evaluate preclinical in vitro vivo models used investigate PNPLA3 involvement SLD, with particular emphasis on metabolic dysfunction‐associated disease. We assess strengths limitations these models, as well challenges arising species differences expression function between human murine systems.

Language: Английский

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