Mañana, JUEVES, 24 DE ABRIL, el sistema se apagará debido a tareas habituales de mantenimiento a partir de las 9 de la mañana. Lamentamos las molestias.
Multicentric standardization of protocols for the diagnosis of human mitochondrial respiratory chain defects
dc.contributor.author | Bujan, Nuria | |
dc.contributor.author | Morén, Constanza | |
dc.contributor.author | García-García, Francesc J. | |
dc.contributor.author | Blázquez, Alberto | |
dc.contributor.author | Carnicer, Clara | |
dc.contributor.author | Cortés, Ana Belén | |
dc.contributor.author | González, Cristina | |
dc.contributor.author | López Gallardo, Ester | |
dc.contributor.author | Lozano, Ester | |
dc.contributor.author | Moliner, Sonia | |
dc.contributor.author | Gort, Laura | |
dc.contributor.author | Tobías, Ester | |
dc.contributor.author | Delmiro, Aitor | |
dc.contributor.author | Martín, Miguel Ángel | |
dc.contributor.author | Fernández Moreno, Miguel Ángel | |
dc.contributor.author | Ruiz-Pesini, Eduardo | |
dc.contributor.author | Garcia-Arumí, Elena | |
dc.contributor.author | Rodríguez-Aguilera, Juan Carlos | |
dc.contributor.author | Garrabou, Glòria | |
dc.date.accessioned | 2023-02-03T11:33:24Z | |
dc.date.available | 2023-02-03T11:33:24Z | |
dc.date.issued | 2022-04-08 | |
dc.identifier.citation | Antioxidants 11.4 (2022): 741 | en_US |
dc.identifier.issn | 2076-3921 (online) | es_ES |
dc.identifier.uri | http://hdl.handle.net/10486/706170 | |
dc.description | The study was conducted according to the guidelines of the Declaration of Helsinki and approved by the Institutional Review Board of each institution: IBC U737 (C0000128), HCL U722 (HCB2017/0808), 12O U723 (CEI:18/487), VH U701 (PR(IR)63/2016) and UPO U729 (C.I. 2768-N-21) | en_US |
dc.description.abstract | The quantification of mitochondrial respiratory chain (MRC) enzymatic activities is essential for diagnosis of a wide range of mitochondrial diseases, ranging from inherited defects to secondary dysfunctions. MRC lesion is frequently linked to extended cell damage through the generation of proton leak or oxidative stress, threatening organ viability and patient health. However, the intrinsic challenge of a methodological setup and the high variability in measuring MRC enzymatic activities represents a major obstacle for comparative analysis amongst institutions. To improve experimental and statistical robustness, seven Spanish centers with extensive experience in mitochondrial research and diagnosis joined to standardize common protocols for spectrophotometric MRC enzymatic measurements using minimum amounts of sample. Herein, we present the detailed protocols, reference ranges, tips and troubleshooting methods for experimental and analytical setups in different sample preparations and tissues that will allow an international standardization of common protocols for the diagnosis of MRC defects. Methodological standardization is a crucial step to obtain comparable reference ranges and international standards for laboratory assays to set the path for further diagnosis and research in the field of mitochondrial diseases | en_US |
dc.description.sponsorship | This work was supported by Instituto de Salud Carlos III (ISCIII), grants FIS PI17/00021, PI17/00359, PI18/00498, PI18/00451, PI18/01374, PI19/01772, PI20/00541, PI21/00229, PI21/00381 and PI21/00935 (ISCIII-FEDER “Cofinanciado por la Unión Europea”), Fundació Privada Cellex, Junta de Andalucía (UPO-1262247) and Ministerio de Ciencia e Innovación (MCINN) grant PID2019-110320RBI00. All participant centers are integrated in the Centro de Investigación Biomédica en Red (CIBER), Sección de Enfermedades Raras (CIBERER, an initiative of ISCIII), which is the founder of this present methodological study | en_US |
dc.format.extent | 16 pag. | es_ES |
dc.format.mimetype | application/pdf | en_US |
dc.language.iso | eng | en_US |
dc.publisher | MDPI | en_US |
dc.relation.ispartof | Antioxidants | en_US |
dc.rights | © 2022 by the authors | en_US |
dc.subject.other | diagnosis | en_US |
dc.subject.other | enzyme activity | en_US |
dc.subject.other | mitochondrial disease | en_US |
dc.subject.other | mitochondrial respiratory chain | en_US |
dc.subject.other | standardization | en_US |
dc.title | Multicentric standardization of protocols for the diagnosis of human mitochondrial respiratory chain defects | en_US |
dc.type | article | en_US |
dc.subject.eciencia | Medicina | es_ES |
dc.relation.publisherversion | https://doi.org/10.3390/antiox11040741 | en_US |
dc.identifier.doi | 10.3390/antiox11040741 | en_US |
dc.identifier.publicationfirstpage | 741-1 | es_ES |
dc.identifier.publicationissue | 4 | es_ES |
dc.identifier.publicationlastpage | 741-16 | es_ES |
dc.identifier.publicationvolume | 11 | es_ES |
dc.relation.projectID | Gobierno de España. PID2019-110320RBI00 | es_ES |
dc.type.version | info:eu-repo/semantics/publishedVersion | en_US |
dc.rights.cc | Reconocimiento | es_ES |
dc.rights.accessRights | openAccess | en_US |
dc.facultadUAM | Facultad de Medicina | es_ES |
dc.institutoUAM | Instituto de Investigaciones Biomédicas "Alberto Sols" (IIBM) | es_ES |
dc.institutoUAM | Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12) | es_ES |