Modelling the Human Blood–Brain Barrier in Huntington Disease
While blood–brain barrier (BBB) dysfunction has been described in neurological disorders, including Huntington’s disease (HD), it is not known if endothelial cells themselves are functionally compromised when promoting BBB dysfunction. Furthermore, the underlying mechanisms of BBB dysfunction remain...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-07-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/23/14/7813 |
| _version_ | 1797433441628717056 |
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| author | Domenico Vignone Odalys Gonzalez Paz Ivan Fini Antonella Cellucci Giulio Auciello Maria Rosaria Battista Isabelle Gloaguen Silvia Fortuni Cristina Cariulo Vinod Khetarpal Celia Dominguez Ignacio Muñoz-Sanjuán Annalise Di Marco |
| author_facet | Domenico Vignone Odalys Gonzalez Paz Ivan Fini Antonella Cellucci Giulio Auciello Maria Rosaria Battista Isabelle Gloaguen Silvia Fortuni Cristina Cariulo Vinod Khetarpal Celia Dominguez Ignacio Muñoz-Sanjuán Annalise Di Marco |
| author_sort | Domenico Vignone |
| collection | DOAJ |
| description | While blood–brain barrier (BBB) dysfunction has been described in neurological disorders, including Huntington’s disease (HD), it is not known if endothelial cells themselves are functionally compromised when promoting BBB dysfunction. Furthermore, the underlying mechanisms of BBB dysfunction remain elusive given the limitations with mouse models and post mortem tissue to identify primary deficits. We established models of BBB and undertook a transcriptome and functional analysis of human induced pluripotent stem cell (iPSC)-derived brain-like microvascular endothelial cells (iBMEC) from HD patients or unaffected controls. We demonstrated that HD-iBMECs have abnormalities in barrier properties, as well as in specific BBB functions such as receptor-mediated transcytosis. |
| first_indexed | 2024-03-09T10:17:06Z |
| format | Article |
| id | doaj.art-270c5f78ddb04b92bb989dab36bd3230 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T10:17:06Z |
| publishDate | 2022-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-270c5f78ddb04b92bb989dab36bd32302023-12-01T22:15:35ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-07-012314781310.3390/ijms23147813Modelling the Human Blood–Brain Barrier in Huntington DiseaseDomenico Vignone0Odalys Gonzalez Paz1Ivan Fini2Antonella Cellucci3Giulio Auciello4Maria Rosaria Battista5Isabelle Gloaguen6Silvia Fortuni7Cristina Cariulo8Vinod Khetarpal9Celia Dominguez10Ignacio Muñoz-Sanjuán11Annalise Di Marco12IRBM SpA, Via Pontina km 30,600, 00071 Pomezia, ItalyIRBM SpA, Via Pontina km 30,600, 00071 Pomezia, ItalyIRBM SpA, Via Pontina km 30,600, 00071 Pomezia, ItalyIRBM SpA, Via Pontina km 30,600, 00071 Pomezia, ItalyIRBM SpA, Via Pontina km 30,600, 00071 Pomezia, ItalyIRBM SpA, Via Pontina km 30,600, 00071 Pomezia, ItalyIRBM SpA, Via Pontina km 30,600, 00071 Pomezia, ItalyIRBM SpA, Via Pontina km 30,600, 00071 Pomezia, ItalyIRBM SpA, Via Pontina km 30,600, 00071 Pomezia, ItalyCHDI Management/CHDI Foundation, 6080 Center Drive, Los Angeles, CA 90045, USACHDI Management/CHDI Foundation, 6080 Center Drive, Los Angeles, CA 90045, USACHDI Management/CHDI Foundation, 6080 Center Drive, Los Angeles, CA 90045, USAIRBM SpA, Via Pontina km 30,600, 00071 Pomezia, ItalyWhile blood–brain barrier (BBB) dysfunction has been described in neurological disorders, including Huntington’s disease (HD), it is not known if endothelial cells themselves are functionally compromised when promoting BBB dysfunction. Furthermore, the underlying mechanisms of BBB dysfunction remain elusive given the limitations with mouse models and post mortem tissue to identify primary deficits. We established models of BBB and undertook a transcriptome and functional analysis of human induced pluripotent stem cell (iPSC)-derived brain-like microvascular endothelial cells (iBMEC) from HD patients or unaffected controls. We demonstrated that HD-iBMECs have abnormalities in barrier properties, as well as in specific BBB functions such as receptor-mediated transcytosis.https://www.mdpi.com/1422-0067/23/14/7813blood–brain barriertransportinduced pluripotent stem cellsbrain endothelial cellsin vitro modelsHuntington’s disease |
| spellingShingle | Domenico Vignone Odalys Gonzalez Paz Ivan Fini Antonella Cellucci Giulio Auciello Maria Rosaria Battista Isabelle Gloaguen Silvia Fortuni Cristina Cariulo Vinod Khetarpal Celia Dominguez Ignacio Muñoz-Sanjuán Annalise Di Marco Modelling the Human Blood–Brain Barrier in Huntington Disease International Journal of Molecular Sciences blood–brain barrier transport induced pluripotent stem cells brain endothelial cells in vitro models Huntington’s disease |
| title | Modelling the Human Blood–Brain Barrier in Huntington Disease |
| title_full | Modelling the Human Blood–Brain Barrier in Huntington Disease |
| title_fullStr | Modelling the Human Blood–Brain Barrier in Huntington Disease |
| title_full_unstemmed | Modelling the Human Blood–Brain Barrier in Huntington Disease |
| title_short | Modelling the Human Blood–Brain Barrier in Huntington Disease |
| title_sort | modelling the human blood brain barrier in huntington disease |
| topic | blood–brain barrier transport induced pluripotent stem cells brain endothelial cells in vitro models Huntington’s disease |
| url | https://www.mdpi.com/1422-0067/23/14/7813 |
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