Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN 38120, USA.
Neuron. 2013 Apr 10;78(1):65-80. doi: 10.1016/j.neuron.2013.02.029. Epub 2013 Mar 14.
Mutations in VCP cause multisystem degeneration impacting the nervous system, muscle, and/or bone. Patients may present with ALS, Parkinsonism, frontotemporal dementia, myopathy, Paget's disease, or a combination of these. The disease mechanism is unknown. We developed a Drosophila model of VCP mutation-dependent degeneration. The phenotype is reminiscent of PINK1 and parkin mutants, including a pronounced mitochondrial defect. Indeed, VCP interacts genetically with the PINK1/parkin pathway in vivo. Paradoxically, VCP complements PINK1 deficiency but not parkin deficiency. The basis of this paradox is resolved by mechanistic studies in vitro showing that VCP recruitment to damaged mitochondria requires Parkin-mediated ubiquitination of mitochondrial targets. VCP recruitment coincides temporally with mitochondrial fission, and VCP is required for proteasome-dependent degradation of Mitofusins in vitro and in vivo. Further, VCP and its adaptor Npl4/Ufd1 are required for clearance of damaged mitochondria via the PINK1/Parkin pathway, and this is impaired by pathogenic mutations in VCP.
VCP 基因突变会导致多系统退化,影响神经系统、肌肉和/或骨骼。患者可能表现出 ALS、帕金森病、额颞叶痴呆、肌病、佩吉特病,或这些疾病的组合。疾病机制尚不清楚。我们开发了一种依赖 VCP 突变的果蝇模型来研究退化。该表型类似于 PINK1 和 parkin 突变体,包括明显的线粒体缺陷。事实上,VCP 在体内与 PINK1/parkin 通路存在遗传相互作用。矛盾的是,VCP 弥补了 PINK1 的缺乏,但不能弥补 parkin 的缺乏。这种矛盾的基础通过体外机制研究得到了解决,表明 VCP 招募到受损线粒体需要 Parkin 介导的线粒体靶标的泛素化。VCP 的招募与线粒体裂变同时发生,并且 VCP 是体外和体内 Mitofusin 依赖蛋白酶体降解所必需的。此外,VCP 及其衔接蛋白 Npl4/Ufd1 通过 PINK1/Parkin 通路被需要来清除受损线粒体,而 VCP 的致病性突变会损害这一过程。