Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

Acta Neuropathol. 2011 Apr;121(4):519-27. doi: 10.1007/s00401-011-0813-3. Epub 2011 Mar 1.

Abstract

Optineurin (OPTN) is a multifunctional protein involved in vesicular trafficking, signal transduction and gene expression. OPTN mutations were described in eight Japanese patients with familial and sporadic amyotrophic lateral sclerosis (FALS, SALS). OPTN-positive inclusions co-localising with TDP-43 were described in SALS and in FALS with SOD-1 mutations, potentially linking two pathologically distinct pathways of motor neuron degeneration. We have explored the abundance of OPTN inclusions using a range of antibodies in postmortem tissues from 138 cases and controls including sporadic and familial ALS, frontotemporal lobar degeneration (FTLD) and a wide range of neurodegenerative proteinopathies. OPTN-positive inclusions were uncommon and detected in only 11/32 (34%) of TDP-43-positive SALS spinal cord and 5/15 (33%) of FTLD-TDP. Western blot of lysates from FTLD-TDP frontal cortex and TDP-43-positive SALS spinal cord revealed decreased levels of OPTN protein compared to controls (p < 0.05), however, this correlated with decreased neuronal numbers in the brain. Large OPTN inclusions were not detected in FALS with SOD-1 and FUS mutation, respectively, or in FTLD-FUS cases. OPTN-positive inclusions were identified in a few Alzheimer's disease (AD) cases but did not co-localise with tau and TDP-43. Occasional striatal neurons contained granular cytoplasmic OPTN immunopositivity in Huntington's disease (HD) but were absent in spinocerebellar ataxia type 3. No OPTN inclusions were detected in FTLD-tau and α-synucleinopathy. We conclude that OPTN inclusions are relatively rare and largely restricted to a minority of TDP-43 positive ALS and FTLD-TDP cases. Our results do not support the proposition that OPTN inclusions play a central role in the pathogenesis of ALS, FTLD or any other neurodegenerative disorder.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Amyotrophic Lateral Sclerosis / pathology*
  • Brain / pathology*
  • Cell Cycle Proteins
  • DNA-Binding Proteins / metabolism*
  • Female
  • Frontotemporal Lobar Degeneration / pathology*
  • Histamine Agonists / metabolism
  • Humans
  • Indoles
  • Male
  • Membrane Transport Proteins
  • Middle Aged
  • Mutation / genetics
  • Nerve Tissue Proteins / metabolism
  • Neurons / metabolism*
  • Spinal Cord / pathology
  • Superoxide Dismutase / genetics
  • Superoxide Dismutase-1
  • Transcription Factor TFIIIA / genetics
  • Transcription Factor TFIIIA / metabolism*
  • Tubulin / metabolism

Substances

  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Histamine Agonists
  • Indoles
  • Membrane Transport Proteins
  • Nerve Tissue Proteins
  • OPTN protein, human
  • SOD1 protein, human
  • TUBB3 protein, human
  • Transcription Factor TFIIIA
  • Tubulin
  • DAPI
  • Superoxide Dismutase
  • Superoxide Dismutase-1