TDP-43 proteinopathy and mitochondrial abnormalities in neurodegeneration

Mol Cell Neurosci. 2019 Oct:100:103396. doi: 10.1016/j.mcn.2019.103396. Epub 2019 Aug 21.

Abstract

Genetic mutations in TAR DNA-binding protein 43 (TDP-43) cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Importantly, TDP-43 proteinopathy, characterized by aberrant phosphorylation, ubiquitination, cleavage or nuclear depletion of TDP-43 in neurons and glial cells, is a common prominent pathological feature of various major neurodegenerative diseases including ALS, FTD, and Alzheimer's disease (AD). Although the pathomechanisms underlying TDP-43 proteinopathy remain elusive, pathologically relevant TDP-43 has been repeatedly shown to be present in either the inside or outside of mitochondria, and functionally involved in the regulation of mitochondrial morphology, trafficking, and function, suggesting mitochondria as likely targets of TDP-43 proteinopathy. In this review, we first describe the current knowledge of the association of TDP-43 with mitochondria. We then review in detail multiple mitochondrial pathways perturbed by pathological TDP-43, including mitochondrial fission and fusion dynamics, mitochondrial trafficking, bioenergetics, and mitochondrial quality control. Lastly, we briefly discuss how the study of TDP-43 proteinopathy and mitochondrial abnormalities may provide new avenues for neurodegeneration therapeutics.

Keywords: Alzheimer's disease; Amyotrophic lateral sclerosis; Frontotemporal dementia; Mitochondria; Neurodegeneration; Neurodegenerative diseases; TDP-43; TDP-43 proteinopathy.

Publication types

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

MeSH terms

  • Animals
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism
  • Humans
  • Mitochondria / metabolism*
  • Mitochondria / pathology
  • Mitochondrial Turnover
  • Neurons / metabolism
  • Neurons / pathology
  • TDP-43 Proteinopathies / genetics
  • TDP-43 Proteinopathies / metabolism*
  • TDP-43 Proteinopathies / pathology

Substances

  • DNA-Binding Proteins
  • TARDBP protein, human