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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
Appears in Collections:(CIB) Artículos
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