Rojas-P., Isabel deAlbiñana, VirginiaRecio-Poveda, LucíaRodriguez-Rufián, AmandaCuesta Martínez, ÁngelBotella, Luisa-María2025-01-162025-01-162020-06-02De Rojas-P I, Albiñana V, Recio-Poveda L, Rodriguez-Rufián A, Cuesta ÁM, Botella LM. CLN5 in heterozygosis may protect against the development of tumors in a VHL patient. Orphanet J Rare Dis [Internet]. diciembre de 2020 [citado 16 de enero de 2025];15(1):132. Disponible en: https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01410-y1750-117210.1186/s13023-020-01410-yhttps://hdl.handle.net/20.500.14352/114720Von 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.engAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/journal articlehttps://doi.org/10.1186/s13023-020-01410-yopen access577.1577.2Von Hippel-Lindau (VHL)Clear cell renal cell carcinoma (ccRCC)Endothelial cells (ECs)Hemangioblastoma (HB)Neuronal Ceroid Lipofuscinosis type 5 (CLN5)Rare diseaseBiología molecular (Farmacia)Bioquímica (Farmacia)24 Ciencias de la Vida