Genetic aberrations in macroautophagy genes leading to diseases

Nienke van Beek, Daniel J Klionsky, Fulvio Reggiori*

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review

32 Citations (Scopus)
466 Downloads (Pure)

Abstract

The catabolic process of macroautophagy, through the rapid degradation of unwanted cellular components, is involved in a multitude of cellular and organismal functions that are essential to maintain homeostasis. Those functions include adaptation to starvation, cell development and differentiation, innate and adaptive immunity, tumor suppression, autophagic cell death, and maintenance of stem cell stemness. Not surprisingly, an impairment or block of macroautophagy can lead to severe pathologies. A still increasing number of reports, in particular, have revealed that mutations in the autophagy-related (ATG) genes, encoding the key players of macroautophagy, are either the cause or represent a risk factor for the development of several illnesses. The aim of this review is to provide a comprehensive overview of the diseases and disorders currently known that are or could be caused by mutations in core ATG proteins but also in the so-called autophagy receptors, which provide specificity to the process of macroautophagy. Our compendium underlines the medical relevance of this pathway and underscores the importance of the eventual development of therapeutic approaches aimed at modulating macroautophagy.

Original languageEnglish
Pages (from-to)803-816
Number of pages14
JournalBiochimica et Biophysica Acta - Molecular Cell Research
Volume1865
Issue number5
DOIs
Publication statusPublished - May-2018

Keywords

  • ATG proteins
  • Autophagy
  • Autophagy receptor
  • Genetic disorders
  • Polymorphisms
  • SPORADIC PARKINSONS-DISEASE
  • INFLAMMATORY-BOWEL-DISEASE
  • SYSTEMIC-LUPUS-ERYTHEMATOSUS
  • AMYOTROPHIC-LATERAL-SCLEROSIS
  • BRAIN IRON ACCUMULATION
  • GENOME-WIDE ASSOCIATION
  • CHINESE HAN POPULATION
  • PAGETS-DISEASE
  • SELECTIVE AUTOPHAGY
  • CROHNS-DISEASE

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