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

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dc.contributor.authorWeihl C.C.
dc.contributor.authorTemiz P.
dc.contributor.authorMiller S.E.
dc.contributor.authorWatts G.
dc.contributor.authorSmith C.
dc.contributor.authorForman M.
dc.contributor.authorHanson P.I.
dc.contributor.authorKimonis V.
dc.contributor.authorPestronk A.
dc.date.accessioned2024-07-22T08:22:10Z
dc.date.available2024-07-22T08:22:10Z
dc.date.issued2008
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-LJ, 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.DOI-ID10.1136/jnnp.2007.131334
dc.identifier.issn1468330X
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/18959
dc.language.isoEnglish
dc.rightsAll Open Access; Green Open Access
dc.subjectAdenosine Triphosphatases
dc.subjectAntigens, CD8
dc.subjectCell Cycle Proteins
dc.subjectDementia
dc.subjectDiagnosis, Differential
dc.subjectDNA-Binding Proteins
dc.subjectElectromyography
dc.subjectHumans
dc.subjectMuscle, Skeletal
dc.subjectMutation, Missense
dc.subjectMyositis, Inclusion Body
dc.subjectPhosphorylation
dc.subjectPoint Mutation
dc.subjectDNA binding protein
dc.subjectTDP 43
dc.subjectunclassified drug
dc.subjectarticle
dc.subjectbrain
dc.subjectcytoplasm
dc.subjectfrontotemporal dementia
dc.subjecthuman
dc.subjecthuman cell
dc.subjecthuman tissue
dc.subjectimmunoblotting
dc.subjectinclusion body myopathy
dc.subjectinclusion body myositis
dc.subjectmuscle
dc.subjectmuscle cell
dc.subjectmyopathy
dc.subjectpathogenesis
dc.subjectpriority journal
dc.titleTDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia
dc.typeArticle

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