TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia.
TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia.
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DOI：
10.1136/jnnp.2007.131334
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发表时间：
2008-10
期刊：
影响因子：
--
通讯作者：
Pestronk A
中科院分区：
文献类型：
--
作者：
Weihl CC;Temiz P;Miller SE;Watts G;Smith C;Forman M;Hanson PI;Kimonis V;Pestronk A
TDP-43存在于某些额颞部痴呆(FTD-U)患者的泛素化内含物(UBI)中。一种形式的FTD-U，由于VCP的突变，发生在包涵体肌病(IBMPFD)。由于IBMPFD脑中存在TDP-43，因此我们在IBMPFD肌肉中寻找TDP-43包涵体。在正常肌肉中，TDP-43存在于细胞核中。在IBMPFD肌肉中，TDP-43还以大包涵体形式存在于肌肉细胞质中的UBI中。78%的肌肉中还存在TDP-43包涵体。在IBMPFD和sIBM肌肉中，TDP-43在免疫印迹上有一条额外的条带迁移，与FTD-U脑中报道的类似。这项研究将sIBM和遗传性包涵体肌病添加到不断增长的TDP-43阳性包涵体疾病名单中。
TDP-43 is found in ubiquitinated inclusions (UBIs) in some frontotemporal dementias (FTD-U). One form of FTD-U, due to mutations in VCP, 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 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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