Loss of Purkinje cells (PCs) in the cerebellum causes severe motor deficits. The peculiar lamellar structures known as “giant lamellar bodies” (GLBs) have been reported in PCs of patients with Werdnig-Hoffman disease, 13q deletion syndrome, and Krabbe’s disease. GLBs are localized to PC dendrites and are associated with neurodegeneration. They have been noted, however, only in case reports following autopsy, and reports of their existence have been very limited. Here we show that GLBs were reproducibly formed in PC dendrites of a mouse model, in which the CCCTC-binding factor (CTCF) was deleted. CTCF orchestrates gene expression by organizing the three-dimensional chromatin structure. The mouse model showed progressive motor dysfunction and abnormal dendritic morphology in PCs, including dendritic self-avoidance defects and proximal shift in the climbing fibre innervation territory on PC dendrites. GLBs were not clearly found in PC dendrites at infancy but instead developed with age. In conjunction with GLB development, the endoplasmic reticulum was almost absent around the nuclei, the mitochondria were markedly swollen and their cristae had decreased drastically, and almost all PCs eventually disappeared as severe motor deficits manifested. Thus, our results are the first experimental demonstration that GLBs represent a pathological alteration of PCs and suggest different genetic backgrounds involved in the induction of GLBs.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.