caa a22 4500 606234667 CHVBK 20210128101238.0 cr unu---uuuuu 210128e20151101xx s 000 0 eng 10.1007/s11010-015-2532-x doi (NATIONALLICENCE)springer-10.1007/s11010-015-2532-x Mitochondrial DNA maintenance: an appraisal [Elektronische Daten] [Alexander Akhmedov, José Marín-García] Mitochondria play a crucial role in a variety of cellular processes ranging from energy metabolism, generation of reactive oxygen species (ROS), and Ca2+ handling to stress responses, cell survival, and death. Malfunction of the organelle may contribute to the pathogenesis of neuromuscular disorders, cancer, premature aging, and cardiovascular diseases, including myocardial ischemia, cardiomyopathy, and heart failure. Mitochondria are unique as they contain their own genome organized into DNA-protein complexes, so-called mitochondrial nucleoids, along with multiprotein machineries, which promote mitochondrial DNA (mtDNA) replication, transcription, and repair. Although the organelle possesses almost all known nuclear DNA repair pathways, including base excision repair, mismatch repair, and recombinational repair, the proximity of mtDNA to the main sites of ROS production and the lack of protective histones may result in increased susceptibility to oxidative stress and other types of mtDNA damage. Defects in the components of these highly organized machineries, which mediate mtDNA maintenance (replication and repair), may result in accumulation of point mutations and/or deletions in mtDNA and decreased mtDNA copy number impairing mitochondrial function. This review will focus on the mechanisms of mtDNA maintenance with emphasis on the proteins implicated in these processes and their functional role in various disease conditions and aging. Springer Science+Business Media New York, 2015 CVD nationallicence mtDNA nationallicence Nucleoid nationallicence mtDNA replication nationallicence mtDNA repair nationallicence Akhmedov Alexander The Molecular Cardiology and Neuromuscular Institute, 75 Raritan Avenue, 08904, Highland Park, NJ, USA aut Marín-García José The Molecular Cardiology and Neuromuscular Institute, 75 Raritan Avenue, 08904, Highland Park, NJ, USA aut Molecular and Cellular Biochemistry Springer US; http://www.springer-ny.com 409/1-2(2015-11-01), 283-305 0300-8177 409:1-2<283 2015 409 11010 https://doi.org/10.1007/s11010-015-2532-x text/html Onlinezugriff via DOI BK010053 XK010053 XK010000 Metadata rights reserved Springer special CC-BY-NC licence nationallicence 1 review-article jats NATIONALLICENCE NATIONALLICENCE NL-springer NATIONALLICENCE 856 40 https://doi.org/10.1007/s11010-015-2532-x text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Akhmedov Alexander The Molecular Cardiology and Neuromuscular Institute, 75 Raritan Avenue, 08904, Highland Park, NJ, USA aut NATIONALLICENCE 700 1- Marín-García José The Molecular Cardiology and Neuromuscular Institute, 75 Raritan Avenue, 08904, Highland Park, NJ, USA aut NATIONALLICENCE 773 0- Molecular and Cellular Biochemistry Springer US; http://www.springer-ny.com 409/1-2(2015-11-01), 283-305 0300-8177 409:1-2<283 2015 409 11010