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.
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Authors | C C Weihl, P Temiz, S E Miller, G Watts, C Smith, M Forman, P I Hanson, V Kimonis, A Pestronk |
Journal | Journal of neurology, neurosurgery, and psychiatry
(J Neurol Neurosurg Psychiatry)
Vol. 79
Issue 10
Pg. 1186-9
(Oct 2008)
ISSN: 1468-330X [Electronic] England |
PMID | 18796596
(Publication Type: Journal Article)
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Chemical References |
- CD8 Antigens
- Cell Cycle Proteins
- DNA-Binding Proteins
- Adenosine Triphosphatases
- VCP protein, human
- Valosin Containing Protein
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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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