CLN5 in heterozygosis may protect against the development of tumors in a VHL patient
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...
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| Format: | Article |
| Language: | English |
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BMC
2020-06-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13023-020-01410-y |
| _version_ | 1818405579426627584 |
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| author | Isabel de Rojas-P Virginia Albiñana Lucía Recio-Poveda Amanda Rodriguez-Rufián Ángel M. Cuesta Luisa-María Botella |
| author_facet | Isabel de Rojas-P Virginia Albiñana Lucía Recio-Poveda Amanda Rodriguez-Rufián Ángel M. Cuesta Luisa-María Botella |
| author_sort | Isabel de Rojas-P |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-14T08:58:17Z |
| format | Article |
| id | doaj.art-383796de483f4052990caf2d77f6f9c3 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-14T08:58:17Z |
| publishDate | 2020-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-383796de483f4052990caf2d77f6f9c32022-12-21T23:08:52ZengBMCOrphanet Journal of Rare Diseases1750-11722020-06-011511610.1186/s13023-020-01410-yCLN5 in heterozygosis may protect against the development of tumors in a VHL patientIsabel de Rojas-P0Virginia Albiñana1Lucía Recio-Poveda2Amanda Rodriguez-Rufián3Ángel M. Cuesta4Luisa-María Botella5Centro de Investigaciones Biológicas Margarita Salas, Consejo Superior de Investigaciones Científicas (CSIC)Centro de Investigaciones Biológicas Margarita Salas, Consejo Superior de Investigaciones Científicas (CSIC)Centro de Investigaciones Biológicas Margarita Salas, Consejo Superior de Investigaciones Científicas (CSIC)Centro de Investigaciones Biológicas Margarita Salas, Consejo Superior de Investigaciones Científicas (CSIC)Centro de Investigaciones Biológicas Margarita Salas, Consejo Superior de Investigaciones Científicas (CSIC)Centro de Investigaciones Biológicas Margarita Salas, Consejo Superior de Investigaciones Científicas (CSIC)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.http://link.springer.com/article/10.1186/s13023-020-01410-yVon Hippel-Lindau (VHL)Neuronal Ceroid Lipofuscinosis type 5 (CLN5)Rare diseaseHemangioblastoma (HB)Clear cell renal cell carcinoma (ccRCC)Endothelial cells (ECs) |
| spellingShingle | Isabel de Rojas-P Virginia Albiñana Lucía Recio-Poveda Amanda Rodriguez-Rufián Ángel M. Cuesta Luisa-María Botella CLN5 in heterozygosis may protect against the development of tumors in a VHL patient Orphanet Journal of Rare Diseases Von Hippel-Lindau (VHL) Neuronal Ceroid Lipofuscinosis type 5 (CLN5) Rare disease Hemangioblastoma (HB) Clear cell renal cell carcinoma (ccRCC) Endothelial cells (ECs) |
| title | CLN5 in heterozygosis may protect against the development of tumors in a VHL patient |
| title_full | CLN5 in heterozygosis may protect against the development of tumors in a VHL patient |
| title_fullStr | CLN5 in heterozygosis may protect against the development of tumors in a VHL patient |
| title_full_unstemmed | CLN5 in heterozygosis may protect against the development of tumors in a VHL patient |
| title_short | CLN5 in heterozygosis may protect against the development of tumors in a VHL patient |
| title_sort | cln5 in heterozygosis may protect against the development of tumors in a vhl patient |
| topic | Von Hippel-Lindau (VHL) Neuronal Ceroid Lipofuscinosis type 5 (CLN5) Rare disease Hemangioblastoma (HB) Clear cell renal cell carcinoma (ccRCC) Endothelial cells (ECs) |
| url | http://link.springer.com/article/10.1186/s13023-020-01410-y |
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