Szczepanowska, Karolina and Trifunovic, Aleksandra (2017). Origins of mtDNA mutations in ageing. In: Essays in Biochemistry, S. 325 - 338. LONDON: PORTLAND PRESS LTD.

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Abstract

MtDNA mutations are one of the hallmarks of ageing and age-related diseases. It is well established that somatic point mutations accumulate in mtDNA of multiple organs and tissues with increasing age and heteroplasmy is universal in mammals. However, the origin of these mutations remains controversial. The long-lasting hypothesis stating that mtDNA mutations emanate from oxidative damage via a self-perpetuating mechanism has been extensively challenged in recent years. Contrary to this initial ascertainment, mtDNA appears to be well protected from action of reactive oxygen species (ROS) through robust protein coating and endomitochondrial microcompartmentalization. Extensive development of scrupulous high-throughput DNA sequencing methods suggests that an imperfect replication process, rather than oxidative lesions are the main sources of mtDNA point mutations, indicating that mtDNA polymerase. (POLG) might be responsible for the majority of mtDNA mutagenic events. Here, we summarize the recent knowledge in prevention and defence of mtDNA oxidative lesions and discuss the plausible mechanisms of mtDNA point mutation generation and fixation.

Item Type: Book Section, Proceedings Item or annotation in a legal commentary
Creators:
CreatorsEmailORCIDORCID Put Code
Szczepanowska, KarolinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Trifunovic, AleksandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-243029
DOI: 10.1042/EBC20160090
Title of Book: Essays in Biochemistry
Series Name: Essays Biochem.
Volume: 61
Number: 3
Page Range: S. 325 - 338
Date: 2017
Publisher: PORTLAND PRESS LTD
Place of Publication: LONDON
ISSN: 1744-1358
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
DNA-POLYMERASE-GAMMA; BASE EXCISION-REPAIR; MITOCHONDRIAL DELETION MUTANTS; ENDOGENOUS OXIDATIVE DAMAGE; ANTIRETROVIRAL THERAPY; CLONAL EXPANSION; SKELETAL-MUSCLE; LIFE-SPAN; IN-VIVO; ACCUMULATIONMultiple languages
Biochemistry & Molecular BiologyMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/24302

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