PNPLA3-I148M: a problem of plenty in non-alcoholic fatty liver disease

Fatty liver disease (FLD) affects more than one-third of the population in the western world and an increasing number of children in the United States. It is a leading cause of obesity and liver transplantation. Mechanistic insights into the causes of FLD are urgently needed since no therapeutic int...

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Main Author: Soumik Basu Ray
Format: Article
Language:English
Published: Taylor & Francis Group 2019-01-01
Series:Adipocyte
Subjects:
Online Access:http://dx.doi.org/10.1080/21623945.2019.1607423
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author Soumik Basu Ray
author_facet Soumik Basu Ray
author_sort Soumik Basu Ray
collection DOAJ
description Fatty liver disease (FLD) affects more than one-third of the population in the western world and an increasing number of children in the United States. It is a leading cause of obesity and liver transplantation. Mechanistic insights into the causes of FLD are urgently needed since no therapeutic intervention has proven to be effective. A sequence variation in patatin like phospholipase domain-containing protein 3 (PNPLA3), rs 738409, is strongly associated with the progression of fatty liver disease. The resulting mutant causes a substitution of isoleucine to methionine at position 148. The underlying mechanism of this disease remains unsolved although several studies have illuminated key insights into its pathogenesis. This review highlights the progress in our understanding of PNPLA3 function in lipid droplet dynamics and explores possible therapeutic interventions to ameliorate this human health hazard.
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spelling doaj.art-13b8f8effba740c29a0103583c4daf1e2022-12-21T18:42:01ZengTaylor & Francis GroupAdipocyte2162-39452162-397X2019-01-018120120810.1080/21623945.2019.16074231607423PNPLA3-I148M: a problem of plenty in non-alcoholic fatty liver diseaseSoumik Basu Ray0University of Texas Southwestern Medical CenterFatty liver disease (FLD) affects more than one-third of the population in the western world and an increasing number of children in the United States. It is a leading cause of obesity and liver transplantation. Mechanistic insights into the causes of FLD are urgently needed since no therapeutic intervention has proven to be effective. A sequence variation in patatin like phospholipase domain-containing protein 3 (PNPLA3), rs 738409, is strongly associated with the progression of fatty liver disease. The resulting mutant causes a substitution of isoleucine to methionine at position 148. The underlying mechanism of this disease remains unsolved although several studies have illuminated key insights into its pathogenesis. This review highlights the progress in our understanding of PNPLA3 function in lipid droplet dynamics and explores possible therapeutic interventions to ameliorate this human health hazard.http://dx.doi.org/10.1080/21623945.2019.1607423fatty liver diseaselipid dropletpnpla3proteasomeautophagy
spellingShingle Soumik Basu Ray
PNPLA3-I148M: a problem of plenty in non-alcoholic fatty liver disease
Adipocyte
fatty liver disease
lipid droplet
pnpla3
proteasome
autophagy
title PNPLA3-I148M: a problem of plenty in non-alcoholic fatty liver disease
title_full PNPLA3-I148M: a problem of plenty in non-alcoholic fatty liver disease
title_fullStr PNPLA3-I148M: a problem of plenty in non-alcoholic fatty liver disease
title_full_unstemmed PNPLA3-I148M: a problem of plenty in non-alcoholic fatty liver disease
title_short PNPLA3-I148M: a problem of plenty in non-alcoholic fatty liver disease
title_sort pnpla3 i148m a problem of plenty in non alcoholic fatty liver disease
topic fatty liver disease
lipid droplet
pnpla3
proteasome
autophagy
url http://dx.doi.org/10.1080/21623945.2019.1607423
work_keys_str_mv AT soumikbasuray pnpla3i148maproblemofplentyinnonalcoholicfattyliverdisease