Proteinopathies and OXPHOS dysfunction in neurodegenerative diseases

J Cell Biol. 2017 Dec 4;216(12):3917-3929. doi: 10.1083/jcb.201709172. Epub 2017 Nov 22.

Abstract

Mitochondria participate in essential processes in the nervous system such as energy and intermediate metabolism, calcium homeostasis, and apoptosis. Major neurodegenerative diseases are characterized pathologically by accumulation of misfolded proteins as a result of gene mutations or abnormal protein homeostasis. Misfolded proteins associate with mitochondria, forming oligomeric and fibrillary aggregates. As mitochondrial dysfunction, particularly of the oxidative phosphorylation system (OXPHOS), occurs in neurodegeneration, it is postulated that such defects are caused by the accumulation of misfolded proteins. However, this hypothesis and the pathological role of proteinopathies in mitochondria remain elusive. In this study, we critically review the proposed mechanisms whereby exemplary misfolded proteins associate with mitochondria and their consequences on OXPHOS.

Publication types

  • Review
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyloid beta-Peptides / genetics
  • Amyloid beta-Peptides / metabolism
  • Animals
  • Gene Expression Regulation
  • Humans
  • Mitochondria / genetics
  • Mitochondria / metabolism*
  • Mitochondrial Proteins / genetics
  • Mitochondrial Proteins / metabolism*
  • Neurodegenerative Diseases / genetics
  • Neurodegenerative Diseases / metabolism*
  • Neurodegenerative Diseases / pathology
  • Oxidative Phosphorylation*
  • Protein Interaction Mapping
  • Proteostasis Deficiencies / genetics
  • Proteostasis Deficiencies / metabolism*
  • Proteostasis Deficiencies / pathology
  • alpha-Synuclein / genetics
  • alpha-Synuclein / metabolism

Substances

  • Amyloid beta-Peptides
  • Mitochondrial Proteins
  • alpha-Synuclein