Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri 63110, USA.
J Clin Invest. 2011 Dec;121(12):4627-30. doi: 10.1172/JCI61126. Epub 2011 Nov 21.
Inclusion body myopathy with Paget disease of the bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative disorder caused by mutations in the valosin-containing protein (VCP) gene. How missense mutations in this abundant, ubiquitously expressed, multifunctional protein lead to the degeneration of disparate tissues is unclear. VCP participates in diverse cellular functions by associating with an expanding collection of substrates and cofactors that dictate its functionality. In this issue of the JCI, Wang and colleagues have further expanded the VCP interactome by identifying neurofibromin-1 (NF1) as a novel VCP interactor in the CNS. IBMPFD-associated mutations disrupt binding of VCP to NF1, resulting in reduced synaptogenesis. Thus, aberrant interactions between VCP and NF1 may explain the dementia phenotype and cognitive delay observed in patients with IBMPFD and neurofibromatosis type 1.
包涵体肌病伴进行性骨肥厚和额颞叶痴呆(IBMPFD)是一种多系统退行性疾病,由含缬氨酸蛋白(VCP)基因突变引起。这种丰富、广泛表达、多功能蛋白中的错义突变如何导致不同组织的退化尚不清楚。VCP 通过与不断扩大的一系列底物和辅助因子结合来参与多种细胞功能,这些因子决定了其功能。在本期 JCI 中,Wang 及其同事通过鉴定神经纤维瘤-1(NF1)作为 CNS 中 VCP 的新相互作用蛋白,进一步扩展了 VCP 相互作用组。IBMPFD 相关突变破坏了 VCP 与 NF1 的结合,导致突触形成减少。因此,VCP 和 NF1 之间异常相互作用可能解释了 IBMPFD 和 1 型神经纤维瘤病患者中观察到的痴呆表型和认知延迟。