Genetic defects of autophagy linked to disease.

Prog Mol Biol Transl Sci

Department of Biomolecular Sciences, The Weizmann Institute of Science, Rehovot, Israel. Electronic address:

Published: June 2021

AI Article Synopsis

  • - Autophagy is a critical cellular process that helps to break down and remove unwanted materials when cells are under stress, playing an important role in keeping cells healthy and stable.
  • - It relies on specific genes called autophagy-related genes (ATG) and receptors, and disruptions in this process can lead to various diseases.
  • - The text discusses how mutations in these genes and receptors can contribute to certain human disorders or increase the risk for them, highlighting the importance of understanding autophagy in health and disease.

Article Abstract

Autophagy is a highly conserved lysosomal degradation pathway responsible for rapid elimination of unwanted cytoplasmic materials in response to stressful conditions. This cytoprotective function is essential for maintenance of cellular homeostasis and is mediated by conserved autophagy-related genes (ATG) and autophagic receptors. Impairment of autophagy frequently results in a wide variety of human pathologies. Recent studies have revealed direct links between diverse diseases and genetic defects of core autophagy genes, autophagy-associated genes, and genes encoding autophagic receptors. Here we provide a general description of autophagy-related genes and their mutations or polymorphisms that play a causative role in specific human disorders or may be risk factors for them.

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Source
http://dx.doi.org/10.1016/bs.pmbts.2020.04.001DOI Listing

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