English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/213623
Share/Impact:
Statistics
logo share SHARE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE
Exportar a otros formatos:

Title

CLN5 in heterozygosis may protect against the development of tumors in a VHL patient

AuthorsRojas-P, Isabel de; Albiñana, Virginia ; Recio-Poveda, Lucía ; Rodriguez-Rufián, Amanda; Cuesta, Ángel M. ; Botella, Luisa María
KeywordsVon Hippel-Lindau (VHL)
Neuronal Ceroid Lipofuscinosis type 5 (CLN5)
Rare disease
Hemangioblastoma (HB)
Clear cell renal cell carcinoma (ccRCC)
Endothelial cells (ECs)
Issue Date2020
PublisherBioMed Central
CitationOrphanet Journal of Rare Diseases 15(1): 132 (2020)
AbstractVon Hippel-Lindau syndrome (VHL) is a rare disease of dominant inheritance that increases susceptibility to tumor development, with a complete penetrance at the age of 60. In this report, we present the unprecedented case of a VHL carrier who remains healthy at 72. Under the course of this study, it was discovered that this patient carries a mutation for a second rare disease, Neuronal Ceroid Lipofuscinosis (NCL or CNL). We hypothesize that the CLN mutation she carries offers a protective effect, preventing tumor development in the cells potentially suffering a VHL second hit mutation. To test this hypothesis, we ran a series of molecular experiments and confirmed that cell viability of primary endothelial cells decreases upon CLN5 silencing. Our results further elucidate the cell biology implications of two rare diseases interacting.
Description© The Author(s).
Publisher version (URL)https://doi.org/10.1186/s13023-020-01410-y
URIhttp://hdl.handle.net/10261/213623
DOIhttp://dx.doi.org/10.1186/s13023-020-01410-y
E-ISSN1750-1172
Appears in Collections:(CIB) Artículos
Files in This Item:
File Description SizeFormat 
CLN5_Rojas_Art2020.pdf1,15 MBAdobe PDFThumbnail
View/Open
Show full item record
Review this work
 


WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.