000152082 001__ 152082 000152082 005__ 20250326144155.0 000152082 0247_ $$2doi$$a10.3390/biomedicines9101364 000152082 0248_ $$2sideral$$a127027 000152082 037__ $$aART-2021-127027 000152082 041__ $$aeng 000152082 100__ $$aHabbane, M. 000152082 245__ $$aHuman mitochondrial DNA: Particularities and diseases 000152082 260__ $$c2021 000152082 5060_ $$aAccess copy available to the general public$$fUnrestricted 000152082 5203_ $$aMitochondria are the cell’s power site, transforming energy into a form that the cell can employ for necessary metabolic reactions. These organelles present their own DNA. Although it codes for a small number of genes, mutations in mtDNA are common. Molecular genetics diagnosis allows the analysis of DNA in several areas such as infectiology, oncology, human genetics and personalized medicine. Knowing that the mitochondrial DNA is subject to several mutations which have a direct impact on the metabolism of the mitochondrion leading to many diseases, it is therefore necessary to detect these mutations in the patients involved. To date numerous mitochondrial mutations have been described in humans, permitting confirmation of clinical diagnosis, in addition to a better management of the patients. Therefore, different techniques are employed to study the presence or absence of mitochondrial mutations. However, new mutations are discovered, and to determine if they are the cause of disease, different functional mitochondrial studies are undertaken using transmitochondrial cybrid cells that are constructed by fusion of platelets of the patient that presents the mutation, with rho osteosarcoma cell line. Moreover, the contribution of next generation sequencing allows sequencing of the entire human genome within a single day and should be considered in the diagnosis of mitochondrial mutations. 000152082 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B33$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00021 000152082 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/ 000152082 590__ $$a4.757$$b2021 000152082 591__ $$aBIOCHEMISTRY & MOLECULAR BIOLOGY$$b121 / 297 = 0.407$$c2021$$dQ2$$eT2 000152082 591__ $$aPHARMACOLOGY & PHARMACY$$b87 / 279 = 0.312$$c2021$$dQ2$$eT1 000152082 591__ $$aMEDICINE, RESEARCH & EXPERIMENTAL$$b62 / 139 = 0.446$$c2021$$dQ2$$eT2 000152082 592__ $$a0.874$$b2021 000152082 593__ $$aMedicine (miscellaneous)$$c2021$$dQ1 000152082 593__ $$aBiochemistry, Genetics and Molecular Biology (miscellaneous)$$c2021$$dQ1 000152082 594__ $$a3.0$$b2021 000152082 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion 000152082 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya, J.$$uUniversidad de Zaragoza 000152082 700__ $$aRhouda, T. 000152082 700__ $$0(orcid)0000-0001-5964-6138$$aSbaoui, Y.$$uUniversidad de Zaragoza 000152082 700__ $$aRadallah, D. 000152082 700__ $$aEmperador, S. 000152082 7102_ $$11003$$2443$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Histología 000152082 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole. 000152082 773__ $$g9, 10 (2021), 1364 [11 pp.]$$tBiomedicines$$x2227-9059 000152082 8564_ $$s760681$$uhttps://zaguan.unizar.es/record/152082/files/texto_completo.pdf$$yVersión publicada 000152082 8564_ $$s2772512$$uhttps://zaguan.unizar.es/record/152082/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada 000152082 909CO $$ooai:zaguan.unizar.es:152082$$particulos$$pdriver 000152082 951__ $$a2025-03-26-13:54:44 000152082 980__ $$aARTICLE