期刊
MUSCLE & NERVE
卷 36, 期 4, 页码 447-454出版社
JOHN WILEY & SONS INC
DOI: 10.1002/mus.20823
关键词
IBM; IBMPFD; inclusion-body myopathy with Paget's disease and frontotemporal dementia; inclusion-body myositis; muscle nucleus; valosin-containing protein; Werner syndrome protein
资金
- NIAMS NIH HHS [R01 AR050236] Funding Source: Medline
Inclusion-body myopathy with Paget's disease and frontotemporal dementia (IBMPFD) is a disease of muscle, bone, and brain that results from mutations in the gene encoding valosin-containing protein (VCP). The mechanism of disease resulting from VCP mutations is unknown. Previous studies of VCP localization in normal human muscle samples have found a capillary and perinuclear distribution, but not a nuclear localization. Here we demonstrate that VCP is present in both myonuclei and endothelial cell nuclei in normal human muscle tissue. The immunodetection of VCP varies with acetone or paraformalclehyde fixation. Within the nucleus, VCP associates with the nucleolar protein fibrillarin and Werner syndrome protein (Wrnp) in normal and IBMPFD muscle. In patients with inclusion-body myositis (IBM), normal nuclear localization is present and some rimmed vacuoles are lined with VCP. These findings suggest that impairment in the nuclear function of VCP might contribute to the muscle pathology occurring in IBMPFD.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据