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Biochemistry (Moscow)

, Volume 74, Issue 9, pp 962–970 | Cite as

Multifactorial nature of high frequency of mitochondrial DNA mutations in somatic mammalian cells

  • I. N. TodorovEmail author
  • G. I. Todorov
Review

Abstract

The high frequency of mitochondrial DNA (mtDNA) mutations in somatic mammalian cells, which is more than two orders of magnitude higher than the mutation frequency of nuclear DNA (nDNA), significantly correlates with development of a variety of mitochondrial diseases (neurodegenerative diseases, cardiomyopathies, type II diabetes mellitus, cancer, etc.). A direct cause—consequence relationship has been established between mtDNA mutations and aging phenotypes in mammals. However, the unclear nature of the high frequency of mtDNA mutations requires a comprehensive consideration of factors that contribute to this phenomenon: oxidative stress, features of structural organization and repair of the mitochondrial genome, ribonucleotide reductase activity, replication errors, mutations of nuclear genes encoding mitochondrial proteins.

Key words

oxidative stress frequency of mtDNA mutations structural features repair mechanisms ribonucleotide reductase activity 

Abbreviations

ANT

adenine nucleotide translocase

AO

antioxidants

APE

apurine/apyrimidine endonuclease

BER

base excision repair

dNDP and dNTP

deoxyribonucleotide-5′-diphosphate and -triphosphate, respectively

ETC

electron transport chain

GPX

glutathione peroxidase

hMTH1

human 8-oxo-dGTPase

LPO

lipid peroxidation

MnSOD

manganese superoxide dismutase

MYH

DNA glycosylase

NTH1

endonuclease III homolog

OGG1-8-OH-dG

glycosylase

PCR

polymerase chain reaction

rNDP

ribonucleoside-5′-diphosphate

ROS

reactive oxygen species

RR

ribonucleotide reductase

TFAM

mitochondrial transcription factor A

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© Pleiades Publishing, Ltd. 2009

Authors and Affiliations

  1. 1.Institute of Problems of Chemical PhysicsRussian Academy of SciencesChernogolovka, Moscow RegionRussia

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