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TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia.

Abstract
TAR DNA binding protein-43 (TDP-43) is found in ubiquitinated inclusions (UBIs) in some frontotemporal dementias (FTD-U). One form of FTD-U, due to mutations in the valosin containing protein (VCP) gene, occurs with an inclusion body myopathy (IBMPFD). Since IBMPFD brain has TDP-43 in UBIs, we looked for TDP-43 inclusions in IBMPFD muscle. In normal muscle, TDP-43 is present in nuclei. In IBMPFD muscle, TDP-43 is additionally present as large inclusions within UBIs in muscle cytoplasm. TDP-43 inclusions were also found in 78% of sporadic inclusion body myositis (sIBM) muscles. In IBMPFD and sIBM muscle, TDP-43 migrated with an additional band on immunoblot similar to that reported in FTD-U brains. This study adds sIBM and hereditary inclusion body myopathies to the growing list of TDP-43 positive inclusion diseases.
AuthorsC C Weihl, P Temiz, S E Miller, G Watts, C Smith, M Forman, P I Hanson, V Kimonis, A Pestronk
JournalJournal of neurology, neurosurgery, and psychiatry (J Neurol Neurosurg Psychiatry) Vol. 79 Issue 10 Pg. 1186-9 (Oct 2008) ISSN: 1468-330X [Electronic] England
PMID18796596 (Publication Type: Journal Article)
Chemical References
  • CD8 Antigens
  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Adenosine Triphosphatases
  • VCP protein, human
  • Valosin Containing Protein
Topics
  • Adenosine Triphosphatases (genetics)
  • CD8 Antigens (immunology)
  • Cell Cycle Proteins (genetics)
  • DNA-Binding Proteins (immunology)
  • Dementia (immunology, pathology, physiopathology)
  • Diagnosis, Differential
  • Electromyography
  • Humans
  • Muscle, Skeletal (immunology, innervation, pathology)
  • Mutation, Missense (genetics)
  • Myositis, Inclusion Body (immunology, pathology, physiopathology)
  • Phosphorylation
  • Point Mutation (genetics)
  • Valosin Containing Protein

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