TM6SF2/PNPLA3/MBOAT7 loss-of-function genetic variants impact on NAFLD development and progression both in patients and in in vitro models

Longo, M.; Meroni, M.; Erconi, V.; Carli, F.; Macchi, C.; Ronchi, D.; Sabatini, Silvia; Paolini, E.; Caro, Emilia Rita De; Alisi, A.; Miele, L.; Soardo, G.; Comi, G.P.; Valenti, L.; Ruscica, M.; Fracanzani, A.L.; Gastaldelli, A.; Dongiovanni, P.

doi:10.1016/j.dld.2020.12.070

Cited by 1 publication

(1 citation statement)

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“…The mutant variant of the MBOAT7 gene, known to localize on the ER-mitochondria membrane border, where biosynthesis of LD and fat occurs, is also regulated by insulin. The strong reduction of MBOAT7 expression occurs during IR and obesity, leading to altered mitochondrial dynamics and morphology, higher OS, and switches from oxidative phosphorylation toward anaerobic glycolysis [204,205].…”

Section: A Bi-directional Nafld ↔ Dm Relationshipmentioning

confidence: 99%

Mitochondrial Mutations and Genetic Factors Determining NAFLD Risk

Dabravolski

Bezsonov

Baig

et al. 2021

IJMS

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NAFLD (non-alcoholic fatty liver disease) is a widespread liver disease that is often linked with other life-threatening ailments (metabolic syndrome, insulin resistance, diabetes, cardiovascular disease, atherosclerosis, obesity, and others) and canprogress to more severe forms, such as NASH (non-alcoholic steatohepatitis), cirrhosis, and HCC (hepatocellular carcinoma). In this review, we summarized and analyzed data about single nucleotide polymorphism sites, identified in genes related to NAFLD development and progression. Additionally, the causative role of mitochondrial mutations and mitophagy malfunctions in NAFLD is discussed. The role of mitochondria-related metabolites of the urea cycle as a new non-invasive NAFLD biomarker is discussed. While mitochondria DNA mutations and SNPs (single nucleotide polymorphisms) canbe used as effective diagnostic markers and target for treatments, age and ethnic specificity should be taken into account.

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Section: A Bi-directional Nafld ↔ Dm Relationshipmentioning

confidence: 99%