Innovative computerized dystrophin quantification method based on spectral confocal microscopy

Several clinical trials are working on drug development for Duchenne and Becker muscular dystrophy (DMD and BMD) treatment, and, since the expected increase in dystrophin is relatively subtle, high-sensitivity quantification methods are necessary. There is also a need to quantify dystrophin to reach...

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Autores: Codina, Anna, Roldán, Mònica, Natera de Benito, Daniel, Ortez, Carlos, Planas, Robert, Matalonga, Leslie, Cuadras, Daniel, Carrera, Laura, Exposito, Jesica, Marquez, Jesus, Jimenez-Mallebrera, Cecilia, Porta, Josep M., Nascimento, Andrés, Jou-Muñoz, Cristina
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Universitat Pompeu Fabra
Repositorio:Repositorio Digital de la UPF
OAI Identifier:oai:repositori.upf.edu:10230/57221
Acceso en línea:http://hdl.handle.net/10230/57221
http://dx.doi.org/10.3390/ijms24076358
Access Level:acceso abierto
Palabra clave:Becker muscular dystrophy
Duchenne muscular dystrophy
Confocal microscopy
Dystrophin
Fluorescence quantification
Spectral imaging
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spelling Innovative computerized dystrophin quantification method based on spectral confocal microscopyCodina, AnnaRoldán, MònicaNatera de Benito, DanielOrtez, CarlosPlanas, RobertMatalonga, LeslieCuadras, DanielCarrera, LauraExposito, JesicaMarquez, JesusJimenez-Mallebrera, CeciliaPorta, Josep M.Nascimento, AndrésJou-Muñoz, CristinaBecker muscular dystrophyDuchenne muscular dystrophyConfocal microscopyDystrophinFluorescence quantificationSpectral imagingSeveral clinical trials are working on drug development for Duchenne and Becker muscular dystrophy (DMD and BMD) treatment, and, since the expected increase in dystrophin is relatively subtle, high-sensitivity quantification methods are necessary. There is also a need to quantify dystrophin to reach a definitive diagnosis in individuals with mild BMD, and in female carriers. We developed a method for the quantification of dystrophin in DMD and BMD patients using spectral confocal microscopy. It offers the possibility to capture the whole emission spectrum for any antibody, ensuring the selection of the emission peak and allowing the detection of fluorescent emissions of very low intensities. Fluorescence was evaluated first on manually selected regions of interest (ROIs), proving the usefulness of the methodology. Later, ROI selection was automated to make it operator-independent. The proposed methodology correctly classified patients according to their diagnosis, detected even minimal traces of dystrophin, and the results obtained automatically were statistically comparable to the manual ones. Thus, spectral imaging could be implemented to measure dystrophin expression and it could pave the way for detailed analysis of how its expression relates to the clinical course. Studies could be further expanded to better understand the expression of dystrophin-associated protein complexes (DAPCs).MDPI202320232023info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/57221http://dx.doi.org/10.3390/ijms24076358reponame:Repositorio Digital de la UPFinstname:Universitat Pompeu FabraInglésInt J Mol Sci. 2023 Mar 28;24(7):6358© 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).http://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:repositori.upf.edu:10230/572212026-06-12T07:21:37Z
dc.title.none.fl_str_mv Innovative computerized dystrophin quantification method based on spectral confocal microscopy
title Innovative computerized dystrophin quantification method based on spectral confocal microscopy
spellingShingle Innovative computerized dystrophin quantification method based on spectral confocal microscopy
Codina, Anna
Becker muscular dystrophy
Duchenne muscular dystrophy
Confocal microscopy
Dystrophin
Fluorescence quantification
Spectral imaging
title_short Innovative computerized dystrophin quantification method based on spectral confocal microscopy
title_full Innovative computerized dystrophin quantification method based on spectral confocal microscopy
title_fullStr Innovative computerized dystrophin quantification method based on spectral confocal microscopy
title_full_unstemmed Innovative computerized dystrophin quantification method based on spectral confocal microscopy
title_sort Innovative computerized dystrophin quantification method based on spectral confocal microscopy
dc.creator.none.fl_str_mv Codina, Anna
Roldán, Mònica
Natera de Benito, Daniel
Ortez, Carlos
Planas, Robert
Matalonga, Leslie
Cuadras, Daniel
Carrera, Laura
Exposito, Jesica
Marquez, Jesus
Jimenez-Mallebrera, Cecilia
Porta, Josep M.
Nascimento, Andrés
Jou-Muñoz, Cristina
author Codina, Anna
author_facet Codina, Anna
Roldán, Mònica
Natera de Benito, Daniel
Ortez, Carlos
Planas, Robert
Matalonga, Leslie
Cuadras, Daniel
Carrera, Laura
Exposito, Jesica
Marquez, Jesus
Jimenez-Mallebrera, Cecilia
Porta, Josep M.
Nascimento, Andrés
Jou-Muñoz, Cristina
author_role author
author2 Roldán, Mònica
Natera de Benito, Daniel
Ortez, Carlos
Planas, Robert
Matalonga, Leslie
Cuadras, Daniel
Carrera, Laura
Exposito, Jesica
Marquez, Jesus
Jimenez-Mallebrera, Cecilia
Porta, Josep M.
Nascimento, Andrés
Jou-Muñoz, Cristina
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Becker muscular dystrophy
Duchenne muscular dystrophy
Confocal microscopy
Dystrophin
Fluorescence quantification
Spectral imaging
topic Becker muscular dystrophy
Duchenne muscular dystrophy
Confocal microscopy
Dystrophin
Fluorescence quantification
Spectral imaging
description Several clinical trials are working on drug development for Duchenne and Becker muscular dystrophy (DMD and BMD) treatment, and, since the expected increase in dystrophin is relatively subtle, high-sensitivity quantification methods are necessary. There is also a need to quantify dystrophin to reach a definitive diagnosis in individuals with mild BMD, and in female carriers. We developed a method for the quantification of dystrophin in DMD and BMD patients using spectral confocal microscopy. It offers the possibility to capture the whole emission spectrum for any antibody, ensuring the selection of the emission peak and allowing the detection of fluorescent emissions of very low intensities. Fluorescence was evaluated first on manually selected regions of interest (ROIs), proving the usefulness of the methodology. Later, ROI selection was automated to make it operator-independent. The proposed methodology correctly classified patients according to their diagnosis, detected even minimal traces of dystrophin, and the results obtained automatically were statistically comparable to the manual ones. Thus, spectral imaging could be implemented to measure dystrophin expression and it could pave the way for detailed analysis of how its expression relates to the clinical course. Studies could be further expanded to better understand the expression of dystrophin-associated protein complexes (DAPCs).
publishDate 2023
dc.date.none.fl_str_mv 2023
2023
2023
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/57221
http://dx.doi.org/10.3390/ijms24076358
url http://hdl.handle.net/10230/57221
http://dx.doi.org/10.3390/ijms24076358
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Int J Mol Sci. 2023 Mar 28;24(7):6358
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Repositorio Digital de la UPF
instname:Universitat Pompeu Fabra
instname_str Universitat Pompeu Fabra
reponame_str Repositorio Digital de la UPF
collection Repositorio Digital de la UPF
repository.name.fl_str_mv
repository.mail.fl_str_mv
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