Exploring RNA therapeutics for urea cycle disorders

RNA has triggered a significant shift in modern medicine, providing a promis-ing way to revolutionize disease treatment methods. Different therapeutic RNA modalities have shown promise to replace, supplement, correct, suppress,or eliminate the expression of a targeted gene. Currently, there are 22 R...

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Detalles Bibliográficos
Autores: Richard Rodríguez, Eva María, Martínez Pizarro, Ainhoa, Ruiz Desviat, Lourdes
Tipo de recurso: artículo
Fecha de publicación:2024
País:España
Institución:Universidad Autónoma de Madrid
Repositorio:Biblos-e Archivo. Repositorio Institucional de la UAM
Idioma:inglés
OAI Identifier:oai:repositorio.uam.es:10486/715935
Acceso en línea:http://hdl.handle.net/10486/715935
https://dx.doi.org/10.1002/jimd.12807
Access Level:acceso abierto
Palabra clave:Antisense Oligonucleotides
mRNA therapy
Ornithine Transcarbamylase Deficiency
Pseudoexon
Splicing
Urea Cycle
Biología y Biomedicina / Biología
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spelling Exploring RNA therapeutics for urea cycle disordersRichard Rodríguez, Eva MaríaMartínez Pizarro, AinhoaRuiz Desviat, LourdesAntisense OligonucleotidesmRNA therapyOrnithine Transcarbamylase DeficiencyPseudoexonSplicingUrea CycleBiología y Biomedicina / BiologíaRNA has triggered a significant shift in modern medicine, providing a promis-ing way to revolutionize disease treatment methods. Different therapeutic RNA modalities have shown promise to replace, supplement, correct, suppress,or eliminate the expression of a targeted gene. Currently, there are 22 RNA-based drugs approved for clinical use, including the COVID-19 mRNA vac-cines, whose unprecedented worldwide success has meant a definitive boost inthe RNA research field. Urea cycle disorders (UCD), liver diseases with highmortality and morbidity, may benefit from the progress achieved, as differentgenetic payloads have been successfully targeted to liver using viral vectors, N-acetylgalactosamine (GalNAc) conjugations or lipid nanoparticles (LNP). This review explores the potential of RNA-based medicines for UCD and theongoing development of applications targeting specific gene defects, enzymes, or transporters taking part in the urea cycle. Notably, LNP-formulated mRNA therapy has been assayed preclinically for citrullinemia type I (CTLN1), adolescent and adult citrin deficiency, argininosuccinic aciduria, arginase defi-ciency and ornithine transcarbamylase deficiency, in the latter case hasprogressed to the clinical trials phaseThis work was funded by grant PID2022-137238OB-100 funded by MICIU/AEI/10.13039/501100011033/ and by ERDF A way of making Europe. Centro de Biología Molecular Severo Ochoa receives an institutional grant from Fundacion Ramon ArecesWileyDepartamento de Biología MolecularFacultad de Ciencias20242024-10-24research articlehttp://purl.org/coar/resource_type/c_2df8fbb1VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10486/715935https://dx.doi.org/10.1002/jimd.12807reponame:Biblos-e Archivo. Repositorio Institucional de la UAMinstname:Universidad Autónoma de MadridInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution-NonCommercial 4.0 Internationalhttp://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccessoai:repositorio.uam.es:10486/7159352026-06-23T12:46:27Z
dc.title.none.fl_str_mv Exploring RNA therapeutics for urea cycle disorders
title Exploring RNA therapeutics for urea cycle disorders
spellingShingle Exploring RNA therapeutics for urea cycle disorders
Richard Rodríguez, Eva María
Antisense Oligonucleotides
mRNA therapy
Ornithine Transcarbamylase Deficiency
Pseudoexon
Splicing
Urea Cycle
Biología y Biomedicina / Biología
title_short Exploring RNA therapeutics for urea cycle disorders
title_full Exploring RNA therapeutics for urea cycle disorders
title_fullStr Exploring RNA therapeutics for urea cycle disorders
title_full_unstemmed Exploring RNA therapeutics for urea cycle disorders
title_sort Exploring RNA therapeutics for urea cycle disorders
dc.creator.none.fl_str_mv Richard Rodríguez, Eva María
Martínez Pizarro, Ainhoa
Ruiz Desviat, Lourdes
author Richard Rodríguez, Eva María
author_facet Richard Rodríguez, Eva María
Martínez Pizarro, Ainhoa
Ruiz Desviat, Lourdes
author_role author
author2 Martínez Pizarro, Ainhoa
Ruiz Desviat, Lourdes
author2_role author
author
dc.contributor.none.fl_str_mv Departamento de Biología Molecular
Facultad de Ciencias
dc.subject.none.fl_str_mv Antisense Oligonucleotides
mRNA therapy
Ornithine Transcarbamylase Deficiency
Pseudoexon
Splicing
Urea Cycle
Biología y Biomedicina / Biología
topic Antisense Oligonucleotides
mRNA therapy
Ornithine Transcarbamylase Deficiency
Pseudoexon
Splicing
Urea Cycle
Biología y Biomedicina / Biología
description RNA has triggered a significant shift in modern medicine, providing a promis-ing way to revolutionize disease treatment methods. Different therapeutic RNA modalities have shown promise to replace, supplement, correct, suppress,or eliminate the expression of a targeted gene. Currently, there are 22 RNA-based drugs approved for clinical use, including the COVID-19 mRNA vac-cines, whose unprecedented worldwide success has meant a definitive boost inthe RNA research field. Urea cycle disorders (UCD), liver diseases with highmortality and morbidity, may benefit from the progress achieved, as differentgenetic payloads have been successfully targeted to liver using viral vectors, N-acetylgalactosamine (GalNAc) conjugations or lipid nanoparticles (LNP). This review explores the potential of RNA-based medicines for UCD and theongoing development of applications targeting specific gene defects, enzymes, or transporters taking part in the urea cycle. Notably, LNP-formulated mRNA therapy has been assayed preclinically for citrullinemia type I (CTLN1), adolescent and adult citrin deficiency, argininosuccinic aciduria, arginase defi-ciency and ornithine transcarbamylase deficiency, in the latter case hasprogressed to the clinical trials phase
publishDate 2024
dc.date.none.fl_str_mv 2024
2024-10-24
dc.type.none.fl_str_mv research article
http://purl.org/coar/resource_type/c_2df8fbb1
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/10486/715935
https://dx.doi.org/10.1002/jimd.12807
url http://hdl.handle.net/10486/715935
https://dx.doi.org/10.1002/jimd.12807
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution-NonCommercial 4.0 International
http://creativecommons.org/licenses/by-nc/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution-NonCommercial 4.0 International
http://creativecommons.org/licenses/by-nc/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
dc.source.none.fl_str_mv reponame:Biblos-e Archivo. Repositorio Institucional de la UAM
instname:Universidad Autónoma de Madrid
instname_str Universidad Autónoma de Madrid
reponame_str Biblos-e Archivo. Repositorio Institucional de la UAM
collection Biblos-e Archivo. Repositorio Institucional de la UAM
repository.name.fl_str_mv
repository.mail.fl_str_mv
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