Fine structural analysis of the neuronal inclusions of frontotemporal lobar degeneration with TDP-43 proteinopathy

J Neural Transm (Vienna). 2008 Dec;115(12):1661-71. doi: 10.1007/s00702-008-0137-1. Epub 2008 Oct 31.

Abstract

TAR DNA-binding protein of 43 kDa (TDP-43) is a major component of the pathological inclusions of frontotemporal lobar degeneration with TDP-43 proteinopathy, also called FTLD with ubiquitin-positive, tau-negative inclusions (FTLD-U), and motor neuron disease (MND). TDP-43 is predominantly expressed in the nucleus and regulates gene expression and splicing. In FTLD with TDP-43 proteinopathy, neuronal inclusions present variably as cytoplasmic inclusions (NCIs), dystrophic neurites (DNs), and intranuclear inclusions (NIIs), leading to a fourfold neuropathological classification correlating with genotype. There have been few fine structural studies of these inclusions. Thus, we undertook an immunoelectron microscopic study of FTLD with TDP-43 proteinopathy, including sporadic and familial cases with progranulin (GRN) mutation. TDP-43-immunoreactive inclusions comprised two components: granular and filamentous. Filament widths, expressed as mean (range) were: NCI, 9 nm (4-16 nm); DN, 10 nm (5-16 nm); NII, 18 nm (9-50 nm). Morphologically distinct inclusion components may reflect the process of TDP-43 aggregation and interaction with other proteins: determining these latter may contribute towards understanding the heterogeneous pathogenesis of FTLD with TDP-43 proteinopathy.

Publication types

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

MeSH terms

  • Aged
  • Aged, 80 and over
  • Brain / metabolism
  • Brain / pathology*
  • Brain / physiopathology
  • Cell Nucleus / metabolism
  • Cell Nucleus / pathology
  • Cytoplasm / metabolism
  • Cytoplasm / pathology
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism*
  • Dementia / genetics
  • Dementia / metabolism
  • Dementia / pathology*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Humans
  • Inclusion Bodies / genetics
  • Inclusion Bodies / metabolism
  • Inclusion Bodies / pathology*
  • Intercellular Signaling Peptides and Proteins / genetics
  • Male
  • Microscopy, Immunoelectron
  • Mutation / genetics
  • Neurons / metabolism
  • Neurons / pathology*
  • Progranulins

Substances

  • DNA-Binding Proteins
  • GRN protein, human
  • Intercellular Signaling Peptides and Proteins
  • Progranulins