2022
DOI: 10.1016/j.jhep.2022.03.031
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Rare ATG7 genetic variants predispose patients to severe fatty liver disease

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Cited by 53 publications
(54 citation statements)
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“…Next, we examined the metabolic pathways responsible for the intracellular homeostasis of triglycerides, and we observed an increase in genes involved in beta-oxidation. In the McA-rh7777 cell culture, consistent with the previous study in rats, we observed an increase in Atg7, a gene involved in autophagy/lipophagy, a fundamental process involved in human liver disease [18]. However, we also saw a modest increase in Srebp1c, the master regulator of triglyceride synthesis that may be interpreted as an adaptive mechanism to maintain intracellular lipid homeostasis.…”
Section: Discussionsupporting
confidence: 91%
“…Next, we examined the metabolic pathways responsible for the intracellular homeostasis of triglycerides, and we observed an increase in genes involved in beta-oxidation. In the McA-rh7777 cell culture, consistent with the previous study in rats, we observed an increase in Atg7, a gene involved in autophagy/lipophagy, a fundamental process involved in human liver disease [18]. However, we also saw a modest increase in Srebp1c, the master regulator of triglyceride synthesis that may be interpreted as an adaptive mechanism to maintain intracellular lipid homeostasis.…”
Section: Discussionsupporting
confidence: 91%
“…We read with great interest the recently published paper by Baselli et al in which they identified novel rare autophagy-related 7 (ATG7) genetic variants that were associated with the progression of non-alcoholic fatty liver disease (NAFLD) in the European population [1]. The implication of autophagy in regulating lipid metabolism, lipid droplet (LD) biogenesis and NAFLD has been well documented in experimental settings [2][3][4].…”
Section: To the Editormentioning
confidence: 99%
“…To the Editor: We read with great pleasure the comment by Ding et al on our recent study reporting that rare genetic variants impairing the function of autophagy related-7 (ATG7) predispose individuals at risk of fatty liver disease (FLD) associated with metabolic dysfunction (MAFLD) to the development of severe fibrosis and hepatocellular carcinoma. 1,2 In our study, we firstly highlighted an enrichment in rare mutations in ATG7 in patients with severe MAFLD compared to healthy individuals. We then validated the impact of rare ATG7 variants on liver disease in the populationbased UK Biobank cohort, in a cohort of individuals with metabolic dysfunction, and in a large liver biopsy cohort (LBC).…”
mentioning
confidence: 79%