The autophagy gene ATG7 has been shown to be essential for the induction of autophagy, a process that used to be suppressed in nonalcoholic fatty liver disease (NAFLD). However, the specific role of ATG7 in NAFLD remains unclear.

Conclusions: We identified rare and low-frequency ATG7 loss-of-function variants that promote NAFLD progression by impairing autophagy and facilitating ballooning and inflammation.

Sep 1, 2022 · Rare loss-of-function ATG7 gene mutations increase the risk of severe liver disease in patients with NAFLD. ATG7 mutations cause altered protein function and impairment of autophagy, leading to hepatocellular ballooning and inflammation.

NAFLD. The spectrum of non-alcoholic fatty liver diseases (NAFLD) extends from isolated steatosis (triglyceride accumulation) to steatohepatitis (steatosis with inflammation) (non-alcoholic steatohepatitis [NASH]), steatofibrosis, which sometimes leads to …

Using several European NAFLD and chronic liver disease cohorts, Baselli et al. identified that loss-of-function variants of ATG7 increased the risk of cirrhosis and hepatocellular carcinoma (HCC). Notably, one low-frequency variant rs36117895 p.

Conclusion: We identified a novel association of ATG7 variants with severe NAFLD. The mechanism likely involve impairment of lipo-autophagy, which may predispose to ballooning degeneration of hepatocytes for the more common pV471A variant.

NAFLD is the leading cause of liver disorders and has a strong heritable component. Rare loss-of-function ATG7 gene mutations increase the risk of se-vere liver disease in patients with NAFLD. ATG7 mutations cause altered protein function and impairment of autophagy, leading to hepatocellular ballooning and inflammation.

We highlighted a candidate loss-of-function variant in the ubiquitin-binding domain of ATG7 as a risk factor for advanced fibrosis and NAFLD-HCC. ATG7 is involved in lipo-autophagy and ATG7 deficient mice reportedly develop steatohepatitis.

May 8, 2020 · Furthermore, we provided evidence showing non-synonymous variants in ATG7 increase the risk of NAFLD and that these variants are loss-of-function. We speculate that ATG7 might be a new susceptibility risk genetic locus for liver disease development and progression.

Nov 3, 2023 · Hepatic loss of Atg7 increases lipid accumulation due to defective autophagy, leading to NAFLD in mice 7, and ATG7 gene mutations in human patients increase the risk of NAFLD 8.