Accumulation of TDP-43 and alpha-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation

Acta Neuropathol. 2009 Oct;118(4):561-73. doi: 10.1007/s00401-009-0545-9. Epub 2009 May 16.

Abstract

A K17I mutation in the ANG gene encoding angiogenin has been identified in a case that we previously published as ALS with neuronal intranuclear protein inclusions (Seilhean et al. in Acta Neuropathol 108:81-87, 2004). These inclusions were immunoreactive for smooth muscle alpha-actin but not for angiogenin. Moreover, they were not labeled by anti-TDP-43 antibodies, while numerous cytoplasmic inclusions immunoreactive for ubiquitin, p62 and TDP-43 were detected in both oligodendrocytes and neurons in various regions of the central nervous system. In addition, expression of smooth muscle alpha-actin was increased in the liver where severe steatosis was observed. This is the first neuropathological description of a case with an ANG mutation. Angiogenin is known to interact with actin. Like other proteins involved in ALS pathogenesis, such as senataxin, TDP-43 and FUS/TLS, it plays a role in RNA maturation.

Publication types

  • Case Reports

MeSH terms

  • Actins / genetics
  • Actins / metabolism*
  • Amyotrophic Lateral Sclerosis / complications
  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / metabolism
  • Amyotrophic Lateral Sclerosis / pathology*
  • Brain / metabolism
  • Brain / pathology
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism*
  • Fatty Liver / complications
  • Female
  • Humans
  • Immunohistochemistry
  • Inclusion Bodies / genetics
  • Inclusion Bodies / metabolism
  • Liver / metabolism
  • Liver / pathology
  • Middle Aged
  • Motor Neurons / metabolism
  • Motor Neurons / pathology
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Mutation
  • Neurons / metabolism
  • Neurons / pathology
  • Oligodendroglia / metabolism
  • Oligodendroglia / pathology
  • Ribonuclease, Pancreatic / genetics*
  • Spinal Cord / metabolism
  • Spinal Cord / pathology

Substances

  • Actins
  • DNA-Binding Proteins
  • angiogenin
  • Ribonuclease, Pancreatic