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| Pàgina inicial > Articles > Articles publicats > Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects |
(Hospital Clínic i Provincial de Barcelona) (Hospital Clínic i Provincial de Barcelona) (Instituto de Investigación Sanitaria Hospital 12 de Octubre (Madrid)) (Universitat de Barcelona. Departament de Biologia Cel·lular, Fisiologia i Immunologia) (Hospital Clínic i Provincial de Barcelona) (Hospital Clínic i Provincial de Barcelona) (Instituto de Investigación Sanitaria Hospital 12 de Octubre (Madrid)) (Universidad Autónoma de Madrid) (Universidad de Zaragoza) (Hospital Universitari Vall d'Hebron) (Universidad Pablo de Olavide) (Hospital Clínic i Provincial de Barcelona)| Data: | 2022 |
| Resum: | 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. |
| Ajuts: | Instituto de Salud Carlos III PI17/00021 Instituto de Salud Carlos III PI17/00359 Instituto de Salud Carlos III PI18/00498 Instituto de Salud Carlos III PI18/00451 Instituto de Salud Carlos III PI18/01374 Instituto de Salud Carlos III PI19/01772 Instituto de Salud Carlos III PI20/00541 Instituto de Salud Carlos III PI21/00229 Instituto de Salud Carlos III PI21/00381 Instituto de Salud Carlos III PI21/00935 |
| Drets: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.  |
| Llengua: | Anglès |
| Document: | Article ; recerca ; Versió publicada |
| Matèria: | Mitochondrial respiratory chain ; Enzyme activity ; Standardization ; Diagnosis ; Mitochondrial disease |
| Publicat a: | Antioxidants, Vol. 11 (april 2022) , ISSN 2076-3921 |
