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

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dc.contributor.authorWeihl, CC
dc.contributor.authorTemiz, P
dc.contributor.authorMiller, SE
dc.contributor.authorWatts, G
dc.contributor.authorSmith, C
dc.contributor.authorForman, M
dc.contributor.authorHanson, PI
dc.contributor.authorKimonis, V
dc.contributor.authorPestronk, A
dc.date.accessioned2024-07-18T12:07:43Z
dc.date.available2024-07-18T12:07:43Z
dc.description.abstractTAR 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.
dc.identifier.issn0022-3050
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/10576
dc.language.isoEnglish
dc.publisherB M J PUBLISHING GROUP
dc.subjectAMYOTROPHIC-LATERAL-SCLEROSIS
dc.subjectOCULOPHARYNGEAL MUSCULAR-DYSTROPHY
dc.subjectVALOSIN-CONTAINING-PROTEIN
dc.subjectGENE-MUTATIONS
dc.subjectMYOSITIS
dc.subjectDISEASE
dc.subjectBETA
dc.titleTDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia
dc.typeArticle

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