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

Wiehl, C. C., Temiz, P., Miller, S. E., Watts, G. D., Smith, C., Forman, M., Hanson, P. I., Kimonis, V. E. and Pestronk, A. (2008) TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia. Journal of Neurology, Neurosurgery and Psychiatry, 79 (10). pp. 1186-1189. ISSN 1468-330X

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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.

Item Type:	Article
Faculty \ School:	Faculty of Medicine and Health Sciences > Norwich Medical School
UEA Research Groups:	Faculty of Medicine and Health Sciences > Research Groups > Medicine (former - to 2013) Faculty of Medicine and Health Sciences > Research Groups > Musculoskeletal Medicine
Depositing User:	EPrints Services
Date Deposited:	25 Nov 2010 11:13
Last Modified:	05 Mar 2024 14:30
URI:	https://ueaeprints.uea.ac.uk/id/eprint/15310
DOI:	10.1136/jnnp.2007.131334

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