RT Journal Article
T1 CLN5 in heterozygosis may protect against the development of tumors in a VHL patient
A1 Rojas-P., Isabel de
A1 Albiñana, Virginia
A1 Recio-Poveda, Lucía
A1 Rodriguez-Rufián, Amanda
A1 Cuesta Martínez, Ángel
A1 Botella, Luisa-María
AB 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.
PB BCM
SN 1750-1172
YR 2020
FD 2020-06-02
LK https://hdl.handle.net/20.500.14352/114720
UL https://hdl.handle.net/20.500.14352/114720
LA eng
NO De 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-y
NO Ministerio de Economía y Competitividad (España)
NO Spanish VHL patient Alliance
DS Docta Complutense
RD 19 abr 2025