Cellular Functions of Optineurin in Health and Disease

Trends Immunol. 2016 Sep;37(9):621-633. doi: 10.1016/j.it.2016.07.002. Epub 2016 Jul 30.

Abstract

Optineurin (OPTN) was initially identified as a regulator of NF-κB and interferon signaling, but attracted most attention because of its association with various human disorders such as glaucoma, Paget disease of bone, and amyotrophic lateral sclerosis. Importantly, OPTN has recently been identified as an autophagy receptor important for the autophagic removal of pathogens, damaged mitochondria, and protein aggregates. This activity is most likely compromised in patients carrying OPTN mutations, and contributes to the observed phenotypes. In this review we summarize recent studies describing the molecular mechanisms by which OPTN controls immunity and autophagy, and discuss these findings in the context of several diseases that have been associated with OPTN (mal)function.

Publication types

  • Review

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics
  • Amyotrophic Lateral Sclerosis / immunology*
  • Animals
  • Autophagy / genetics*
  • Cell Cycle Proteins
  • Glaucoma / genetics
  • Glaucoma / immunology*
  • Humans
  • Immunity / genetics
  • Interferons / metabolism
  • Membrane Transport Proteins
  • Mutation / genetics
  • NF-kappa B / metabolism
  • Osteitis Deformans / genetics
  • Osteitis Deformans / immunology*
  • Signal Transduction
  • Transcription Factor TFIIIA / genetics
  • Transcription Factor TFIIIA / metabolism*

Substances

  • Cell Cycle Proteins
  • Membrane Transport Proteins
  • NF-kappa B
  • OPTN protein, human
  • Transcription Factor TFIIIA
  • Interferons