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ATG7 safeguards human neural integrity.

Jack J Collier1, Monika Oláhová1, Thomas G McWilliams2,3

  • 1Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.

Autophagy
|July 27, 2021
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Summary
This summary is machine-generated.

Genetic variants in ATG7 (a key autophagy protein) cause neurodevelopmental disorders in humans. This study shows human survival is possible with ATG7 dysfunction, expanding understanding of autophagy in health.

Keywords:
Autophagyatg7cell biologydiseasemacroautophagymolecular geneticsneurodegeneration

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Area of Science:

  • Cell Biology
  • Genetics
  • Neuroscience

Background:

  • ATG7 is essential for macroautophagy (autophagy), generating ATG12-ATG5 conjugates and lipidating Atg8 homologs like LC3.
  • Previous studies established ATG7's requirement for mouse survival and linked neural-specific deletion to neurodegeneration.
  • The compatibility of human life with ATG7 dysfunction remained uncharacterized.

Purpose of the Study:

  • To investigate the role of ATG7 in human physiology and disease.
  • To determine if ATG7 variants cause human neurological disorders.
  • To understand the impact of ATG7 dysfunction on autophagy and human health.

Main Methods:

  • Identified patients with biallelic pathogenic ATG7 variants.
  • Assessed ATG7 protein levels and autophagic flux in patient fibroblasts.
  • Utilized biochemical assays for long-lived protein degradation.
  • Confirmed variant pathogenicity using mouse cell complementation assays.

Main Results:

  • Identified twelve patients from five families with ATG7 variants causing a neurodevelopmental disorder.
  • Patient cells exhibited undetectable or severely diminished ATG7 protein levels.
  • Biochemical assays confirmed attenuated autophagy and impaired long-lived protein degradation.
  • Mutated ATG7 variants failed to rescue LC3/Atg8 lipidation in mouse cells.

Conclusions:

  • Mutated ATG7 is a significant cause of human neurological disease.
  • This work expands the understanding of autophagy's role in human health and longevity.
  • Human survival with undetectable ATG7 levels and relatively mild phenotypes is possible in specific contexts.