Metabolic associated fatty liver disease (MAFLD) encompasses a broad spectrum of hepatic disorders, which include steatosis, nonalcoholic steatohepatitis (NASH), fibrosis and cirrhosis, that is a critical risk factor for hepatocellular carcinoma (HCC) development. Its pathogenesis is intertwined with obesity and type 2 diabetes (T2D). However, the predisposition to develop MAFLD is severely influenced by environmental and inherited cues. The rs641738 variant close to MBOAT7 gene has been identified by a genome-wide association screening in heavy drinkers. Although this variant has been associated with the entire spectrum of MAFLD, these results have not been completely replicated and the debate is still opened. Thus, functional studies that unravel the biological mechanisms underlying the genetic association with fatty liver are required. This review aims to summarize the clinical and experimental findings regarding the rs641738 variation and MBOAT7 function, with the purpose to shed light to its role as novel player in MAFLD pathophysiology.
MBOAT7 down-regulation by genetic and environmental factors predisposes to MAFLD / M. Meroni, M. Longo, A.L. Fracanzani, P. Dongiovanni. - In: EBIOMEDICINE. - ISSN 2352-3964. - 57(2020 Jul).
|Titolo:||MBOAT7 down-regulation by genetic and environmental factors predisposes to MAFLD|
MERONI, MARICA (Primo) [Conceptualization]
LONGO, MIRIAM (Secondo) [Methodology]
FRACANZANI, ANNA LUDOVICA (Penultimo) [Methodology]
DONGIOVANNI, PAOLA (Ultimo) [Funding Acquisition] (Corresponding)
|Parole Chiave:||Hyperinsulinemia; Insulin resistance; LPIAT1; MAFLD; MBOAT7; NASH; Phospholipids|
|Settore Scientifico Disciplinare:||Settore MED/09 - Medicina Interna|
|Data di pubblicazione:||lug-2020|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1016/j.ebiom.2020.102866|
|Appare nelle tipologie:||01 - Articolo su periodico|