000121169 001__ 121169
000121169 005__ 20240319081015.0
000121169 0247_ $$2doi$$a10.1242/dmm.049083
000121169 0248_ $$2sideral$$a131814
000121169 037__ $$aART-2022-131814
000121169 041__ $$aeng
000121169 100__ $$0(orcid)0000-0003-3524-5158$$aHernández-Ainsa, Carmen
000121169 245__ $$aDevelopment and characterization of cell models harbouring mtDNA deletions for <i>in vitro</i> study of Pearson syndrome
000121169 260__ $$c2022
000121169 5060_ $$aAccess copy available to the general public$$fUnrestricted
000121169 5203_ $$aPearson syndrome is a rare multisystem disease caused by single large-scale mitochondrial DNA deletions (SLSMDs). The syndrome presents early in infancy and is mainly characterised by refractory sideroblastic anaemia. Prognosis is poor and treatment is supportive, thus the development of new models for the study of Pearson syndrome and new therapy strategies is essential. In this work, we report three different cell models carrying an SLMSD: fibroblasts, transmitochondrial cybrids and induced pluripotent stem cells (iPSCs). All studied models exhibited an aberrant mitochondrial ultrastructure and defective oxidative phosphorylation system function, showing a decrease in different parameters, such as mitochondrial ATP, respiratory complex IV activity and quantity or oxygen consumption. Despite this, iPSCs harbouring ‘common deletion’ were able to differentiate into three germ layers. Additionally, cybrid clones only showed mitochondrial dysfunction when heteroplasmy level reached 70%. Some differences observed among models may depend on their metabolic profile; therefore, we consider that these three models are useful for the in vitro study of Pearson syndrome, as well as for testing new specific therapies.
This article has an associated First Person interview with the first author of the paper.
000121169 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B33-17R$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00021$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI20-00340$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI21-00229
000121169 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000121169 590__ $$a4.3$$b2022
000121169 592__ $$a1.489$$b2022
000121169 591__ $$aPATHOLOGY$$b20 / 76 = 0.263$$c2022$$dQ2$$eT1
000121169 593__ $$aBiochemistry, Genetics and Molecular Biology (miscellaneous)$$c2022$$dQ1
000121169 591__ $$aCELL BIOLOGY$$b93 / 191 = 0.487$$c2022$$dQ2$$eT2
000121169 593__ $$aNeuroscience (miscellaneous)$$c2022$$dQ1
000121169 593__ $$aMedicine (miscellaneous)$$c2022$$dQ1
000121169 593__ $$aImmunology and Microbiology (miscellaneous)$$c2022$$dQ1
000121169 594__ $$a7.5$$b2022
000121169 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000121169 700__ $$0(orcid)0000-0002-3217-1424$$aLópez-Gallardo, Ester$$uUniversidad de Zaragoza
000121169 700__ $$0(orcid)0000-0002-5563-3177$$aGarcía-Jiménez, María Concepción$$uUniversidad de Zaragoza
000121169 700__ $$aCliment-Alcalá, Francisco José
000121169 700__ $$aRodríguez-Vigil, Carmen
000121169 700__ $$aGarcía Fernández de Villalta, Marta
000121169 700__ $$aArtuch, Rafael
000121169 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya, Julio$$uUniversidad de Zaragoza
000121169 700__ $$0(orcid)0000-0002-0269-7337$$aRuiz-Pesini, Eduardo$$uUniversidad de Zaragoza
000121169 700__ $$0(orcid)0000-0001-5964-6138$$aEmperador, Sonia$$uUniversidad de Zaragoza
000121169 7102_ $$11003$$2443$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Histología
000121169 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000121169 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría
000121169 773__ $$g15, 3 (2022), [13 pp.]$$pDisease Models & Mechanisms$$tDisease Models & Mechanisms$$x1754-8403
000121169 8564_ $$s7290759$$uhttps://zaguan.unizar.es/record/121169/files/texto_completo.pdf$$yVersión publicada
000121169 8564_ $$s3658628$$uhttps://zaguan.unizar.es/record/121169/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000121169 909CO $$ooai:zaguan.unizar.es:121169$$particulos$$pdriver
000121169 951__ $$a2024-03-18-15:34:38
000121169 980__ $$aARTICLE