000057720 001__ 57720
000057720 005__ 20210121082905.0
000057720 0247_ $$2doi$$a10.3906/biy-1505-20
000057720 0248_ $$2sideral$$a92703
000057720 037__ $$aART-2015-92703
000057720 041__ $$aeng
000057720 100__ $$aCagin, U.
000057720 245__ $$aMitochondrial dna-related disorders: Emphasis on mechanisms and heterogeneity
000057720 260__ $$c2015
000057720 5060_ $$aAccess copy available to the general public$$fUnrestricted
000057720 5203_ $$aMitochondrial diseases are a heterogeneous group of disorders that are currently the focus of intense research. The many cell functions performed by mitochondria include ATP production, calcium homeostasis, and apoptosis. One of the unique properties of mitochondria is the existence of a separate mitochondrial genome (mitochondrial DNA, mtDNA) found in varying copy numbers and containing 37 genes, 13 of them encoding proteins. All 13 mitochondrially encoded proteins form part of oxidative phosphorylation complexes through combination with approximately 100 nuclear DNA-encoded proteins. Coregulation of nDNA and mtDNA is therefore essential for mitochondrial function, and this coregulation contributes to the heterogeneity and complexity observed in mitochondrial disorders. In recent times, significant advances have been made in our understanding of mtDNA-related disorders. A comprehensive review of these studies will benefit both current and new researchers and clinicians involved in the field. This review examines the major types of mtDNA-related defects and their pathogenic mechanisms, with a special emphasis on the heterogeneity of mitochondrial disorders. Potential treatment strategies specialized for each of the disorders, including the hormone melatonin and the recent advances in gene therapy, related to their potential applications for the management of the primary mtDNA disorders are also discussed.
000057720 536__ $$9info:eu-repo/grantAgreement/ES/MINECO/SAF2012-1207$$9info:eu-repo/grantAgreement/ES/MICINN/CSD2007-00020$$9info:eu-repo/grantAgreement/EC/FP7/317433/EU/Mitochondrial European Educational Training/MEET
000057720 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc$$uhttp://creativecommons.org/licenses/by-nc/3.0/es/
000057720 590__ $$a1.183$$b2015
000057720 591__ $$aBIOLOGY$$b51 / 86 = 0.593$$c2015$$dQ3$$eT2
000057720 592__ $$a0.434$$b2015
000057720 593__ $$aAgricultural and Biological Sciences (miscellaneous)$$c2015$$dQ2
000057720 593__ $$aMicrobiology$$c2015$$dQ3
000057720 593__ $$aMolecular Biology$$c2015$$dQ4
000057720 593__ $$aPhysiology$$c2015$$dQ4
000057720 593__ $$aCell Biology$$c2015$$dQ4
000057720 593__ $$aGenetics$$c2015$$dQ4
000057720 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000057720 700__ $$0(orcid)0000-0002-4931-6730$$aEnriquez, J.A.$$uUniversidad de Zaragoza
000057720 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000057720 773__ $$g39, 6 (2015), 840-855$$pTURKISH JOURNAL OF BIOLOGY$$tTURKISH JOURNAL OF BIOLOGY$$x1300-0152
000057720 8564_ $$s1987138$$uhttps://zaguan.unizar.es/record/57720/files/texto_completo.pdf$$yVersión publicada
000057720 8564_ $$s110158$$uhttps://zaguan.unizar.es/record/57720/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000057720 909CO $$ooai:zaguan.unizar.es:57720$$particulos$$pdriver
000057720 951__ $$a2021-01-21-08:17:48
000057720 980__ $$aARTICLE