The role of PNPLA3 in health and disease.
Adiponutrin (ADPN)
Arachidonic acid
NAFLD
rs2294918
rs738409
Journal
Biochimica et biophysica acta. Molecular and cell biology of lipids
ISSN: 1879-2618
Titre abrégé: Biochim Biophys Acta Mol Cell Biol Lipids
Pays: Netherlands
ID NLM: 101731727
Informations de publication
Date de publication:
06 2019
06 2019
Historique:
received:
19
04
2018
revised:
12
06
2018
accepted:
14
06
2018
pubmed:
24
6
2018
medline:
15
1
2020
entrez:
24
6
2018
Statut:
ppublish
Résumé
The human patatin-like phospholipase domain-containing 3 (PNPLA3) gene encodes for a protein of 481 amino-acids. The variant rs738409 is a cytosine to guanine substitution, encoding for the isoleucine to methionine substitution at position 148 (I148M) of the protein. This variant is strongly associated with the entire spectrum of liver disease. Although this variant is one of the best characterized and deeply studied, the mechanism behind the PNPLA3 and the liver disease is still not well defined. Functionally, it has become clear that the PNPLA3 protein is an enzyme with lipase activity towards triglycerides and retinyl esters, and acyltransferase activity on phospholipids. The aim of this review is to collect the latest data, obtained by in vitro and in vivo experiments, on the functional aspects of the PNPLA3 protein. Defining the precise role of PNPLA3 in the liver lipid metabolism, in order to develop novel therapies for the treatment of liver disease, will be the key of future research.
Identifiants
pubmed: 29935383
pii: S1388-1981(18)30145-8
doi: 10.1016/j.bbalip.2018.06.018
pii:
doi:
Substances chimiques
Membrane Proteins
0
Phospholipids
0
Triglycerides
0
Lipase
EC 3.1.1.3
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
900-906Informations de copyright
Copyright © 2018. Published by Elsevier B.V.