TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations

J Neuropathol Exp Neurol. 2007 Feb;66(2):152-7. doi: 10.1097/nen.0b013e31803020b9.

Abstract

Frontotemporal dementia with inclusion body myopathy and Paget disease of bone is a rare, autosomal-dominant disorder caused by mutations in the gene valosin-containing protein (VCP). The CNS pathology is characterized by a novel pattern of ubiquitin pathology distinct from sporadic and familial frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) without VCP mutations. TAR DNA binding protein 43 (TDP-43) was recently identified as a major disease protein in the ubiquitin-positive inclusions of sporadic and familial FTLD-U. To determine whether the ubiquitin pathology associated with mutations in VCP is characterized by the accumulation of TDP-43, we analyzed TDP-43 in the CNS pathology of five patients with VCP gene mutations. Accumulations of TDP-43 colocalized with ubiquitin pathology in inclusion body myopathy and Paget disease of bone, including both intranuclear inclusions and dystrophic neurites. Similar to FTLD-U, phosphorylated TDP-43 was detected only in insoluble brain extracts from affected brain regions. Identification of TDP-43, but not VCP, within ubiquitin-positive inclusions supports the hypothesis that VCP gene mutations lead to a dominant negative loss or alteration of VCP function culminating in impaired degradation of TDP-43. TDP-43 is a common pathologic substrate linking a variety of distinct patterns of FTLD-U pathology caused by different genetic alterations.

Publication types

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

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Aged
  • Cell Cycle Proteins / genetics*
  • Cerebral Cortex / metabolism*
  • Cerebral Cortex / pathology
  • DNA-Binding Proteins / metabolism*
  • Dementia / genetics*
  • Dementia / metabolism*
  • Dementia / pathology
  • Female
  • Humans
  • Inclusion Bodies / genetics
  • Inclusion Bodies / metabolism
  • Inclusion Bodies / pathology
  • Male
  • Middle Aged
  • Mutation / genetics
  • Myositis, Inclusion Body / genetics
  • Myositis, Inclusion Body / metabolism
  • Myositis, Inclusion Body / pathology
  • Neurons / metabolism
  • Neurons / pathology
  • Osteitis Deformans / genetics
  • Osteitis Deformans / metabolism
  • Osteitis Deformans / pathology
  • Ubiquitin / metabolism*
  • Valosin Containing Protein

Substances

  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Ubiquitin
  • Adenosine Triphosphatases
  • VCP protein, human
  • Valosin Containing Protein