%0 Journal Article
%A Rojas-P., Isabel de
%A Albiñana, Virginia
%A Recio-Poveda, Lucía
%A Rodriguez-Rufián, Amanda
%A Cuesta Martínez, Ángel
%A Botella, Luisa-María
%T CLN5 in heterozygosis may protect against the development of tumors in a VHL patient
%D 2020
%@ 1750-1172
%U https://hdl.handle.net/20.500.14352/114720
%X Von 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.
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