PNPLA3 expression and its impact on the liver: current perspectives

Francesca Virginia Bruschi, Matteo Tardelli, Thierry Claudel, Michael Trauner Hans Popper Laboratory of Molecular Hepatology, Division of Gastroenterology & Hepatology, Department of Internal Medicine III, Medical University of Vienna, Austria Abstract: A single-nucleotide...

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Autores principales:	Bruschi FV, Tardelli M, Claudel T, Trauner M
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2017
Materias:	Adiponutrin liver disease genetic polymorphism gene expression metabolism Diseases of the digestive system. Gastroenterology RC799-869
Acceso en línea:	https://doaj.org/article/37291d1a8644450a9f860a148f8300d2
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spelling	oai:doaj.org-article:37291d1a8644450a9f860a148f8300d22021-12-02T06:23:26ZPNPLA3 expression and its impact on the liver: current perspectives1179-1535https://doaj.org/article/37291d1a8644450a9f860a148f8300d22017-11-01T00:00:00Zhttps://www.dovepress.com/pnpla3-expression-and-its-impact-on-the-liver-current-perspectives-peer-reviewed-article-HMERhttps://doaj.org/toc/1179-1535Francesca Virginia Bruschi, Matteo Tardelli, Thierry Claudel, Michael Trauner Hans Popper Laboratory of Molecular Hepatology, Division of Gastroenterology & Hepatology, Department of Internal Medicine III, Medical University of Vienna, Austria Abstract: A single-nucleotide polymorphism occurring in the sequence of the human patatin-like phospholipase domain-containing 3 gene (PNPLA3), known as I148M variant, is one of the best characterized and deeply investigated variants in several clinical scenarios, because of its tight correlation with increased risk for developing hepatic steatosis and more aggressive part of the disease spectrum, such as nonalcoholic steatohepatitis, advanced fibrosis and cirrhosis. Further, the I148M variant is positively associated with alcoholic liver diseases, chronic hepatitis C–related cirrhosis and hepatocellular carcinoma. The native gene encodes for a protein that has not yet a fully defined role in liver lipid metabolism and, according to recent observations, seems to be divergently regulated among distinct liver cells type, such as hepatic stellate cells. Therefore, the aim of this review is to collect the latest data regarding PNPLA3 expression in human liver and to analyze the impact of its genetic variant in human hepatic pathologies. Moreover, a description of the current biochemical and metabolic data pertaining to PNPLA3 function in both animal models and in vitro studies is summarized to allow a better understanding of the relevant pathophysiological role of this enzyme in the progression of hepatic diseases. Keywords: adiponutrin, liver disease, genetic polymorphism, gene expression, metabolismBruschi FVTardelli MClaudel TTrauner MDove Medical PressarticleAdiponutrinliver diseasegenetic polymorphismgene expressionmetabolismDiseases of the digestive system. GastroenterologyRC799-869ENHepatic Medicine: Evidence and Research, Vol Volume 9, Pp 55-66 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Adiponutrin liver disease genetic polymorphism gene expression metabolism Diseases of the digestive system. Gastroenterology RC799-869
spellingShingle	Adiponutrin liver disease genetic polymorphism gene expression metabolism Diseases of the digestive system. Gastroenterology RC799-869 Bruschi FV Tardelli M Claudel T Trauner M PNPLA3 expression and its impact on the liver: current perspectives
description	Francesca Virginia Bruschi, Matteo Tardelli, Thierry Claudel, Michael Trauner Hans Popper Laboratory of Molecular Hepatology, Division of Gastroenterology & Hepatology, Department of Internal Medicine III, Medical University of Vienna, Austria Abstract: A single-nucleotide polymorphism occurring in the sequence of the human patatin-like phospholipase domain-containing 3 gene (PNPLA3), known as I148M variant, is one of the best characterized and deeply investigated variants in several clinical scenarios, because of its tight correlation with increased risk for developing hepatic steatosis and more aggressive part of the disease spectrum, such as nonalcoholic steatohepatitis, advanced fibrosis and cirrhosis. Further, the I148M variant is positively associated with alcoholic liver diseases, chronic hepatitis C–related cirrhosis and hepatocellular carcinoma. The native gene encodes for a protein that has not yet a fully defined role in liver lipid metabolism and, according to recent observations, seems to be divergently regulated among distinct liver cells type, such as hepatic stellate cells. Therefore, the aim of this review is to collect the latest data regarding PNPLA3 expression in human liver and to analyze the impact of its genetic variant in human hepatic pathologies. Moreover, a description of the current biochemical and metabolic data pertaining to PNPLA3 function in both animal models and in vitro studies is summarized to allow a better understanding of the relevant pathophysiological role of this enzyme in the progression of hepatic diseases. Keywords: adiponutrin, liver disease, genetic polymorphism, gene expression, metabolism
format	article
author	Bruschi FV Tardelli M Claudel T Trauner M
author_facet	Bruschi FV Tardelli M Claudel T Trauner M
author_sort	Bruschi FV
title	PNPLA3 expression and its impact on the liver: current perspectives
title_short	PNPLA3 expression and its impact on the liver: current perspectives
title_full	PNPLA3 expression and its impact on the liver: current perspectives
title_fullStr	PNPLA3 expression and its impact on the liver: current perspectives
title_full_unstemmed	PNPLA3 expression and its impact on the liver: current perspectives
title_sort	pnpla3 expression and its impact on the liver: current perspectives
publisher	Dove Medical Press
publishDate	2017
url	https://doaj.org/article/37291d1a8644450a9f860a148f8300d2
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PNPLA3 expression and its impact on the liver: current perspectives

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