| Autor: |
Isabel de Rojas-P, Virginia Albiñana, Lucía Recio-Poveda, Amanda Rodriguez-Rufián, Ángel M. Cuesta, Luisa-María Botella |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
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| Zdroj: |
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-6 (2020) |
| Druh dokumentu: |
article |
| ISSN: |
1750-1172 |
| DOI: |
10.1186/s13023-020-01410-y |
| Popis: |
Abstract 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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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