Abstract
Reactive oxygen and nitrogen species (RONS) can be produced in our system by several endogenous and exogenous processes, leading toward the accumulation of oxidative lesions throughout the genome. Oxidative DNA damage is a major threat to genomic integrity, thus resulting in the manifestation of various chronic diseases including cancer, cardiovascular disorders, and neurodegeneration. 7,8-dihydro-8oxo-deoxyguanine (8-oxo-G) is one of the best characterized oxidative DNA lesions. If not repaired, A:8-oxo-G mispairs can give rise to C: G → A: T transversion mutations. These lesions are mainly repaired by BER and NER pathways, which are regulated by an arsenal of different proteins at different levels. In this chapter, we briefly detail the generation of oxidative DNA damage and the effects of this damage in cellular level. We also highlighted the possible repair pathways to erase these lesions and discussed all the human diseases induced by this oxidative DNA damage.
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References
Al-Tassan N et al (2002) Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors. Nat Genet 30:227–232
(2013) Gene polymorphism of XRCC1 Arg399Gln and cervical carcinoma susceptibility in Asians: a meta-analysis based on 1,759 cases and 2,497 controls. Asian Pac J Cancer Prev 14:189–193
Bakhoum SF, Cantley LC (2018) The multifaceted role of chromosomal instability in cancer and its microenvironment. Cell 174:1347–1360
Berdis AJ (2017) Inhibiting DNA polymerases as a therapeutic intervention against cancer. Front Mol Biosci 4:78
Boldogh I et al (2012) Activation of Ras signaling pathway by 8-oxoguanine DNA glycosylase bound to its excision product, 8-oxoguanine. J Biol Chem 287:20769–20773
Brégeon D, Peignon P-A, Sarasin A (2009) Transcriptional mutagenesis induced by 8-oxoguanine in mammalian cells. PLoS Genet 5:e1000577
Bryant HE et al (2005) Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP- ribose) polymerase. Nature 434:913–917
Burtenshaw D, Kitching M, Redmond EM, Megson IL, Cahill PA (2019) Reactive oxygen species (ROS), intimal thickening, and subclinical atherosclerotic disease. Front Cardiovasc Med 6:89–89
Cacciapuoti F (2016) Oxidative stress as ‘mother’ of many human diseases at strong clinical impact. J Cardiovasc Med Cardiol 3(1):001–006. https://doi.org/10.17352/2455-2976.000020
Cadet J, Davies KJA (2017) Oxidative DNA damage & repair: an introduction. Free Radic Biol Med 107:2–12
Cai L, Fu Y, Zhang Y (2014) APE1 Asp148Glu polymorphism and lung cancer susceptibility. Tumor Biol 35:5237–5244
Chen Y, Li J, Mo Z (2016) Association between the APEX1 Asp148Glu polymorphism and prostate cancer, especially among Asians: a new evidence-based analysis. Oncotarget 7:52530–52540
Cheng B et al (2022) Recent advances in DDR (DNA damage response) inhibitors for cancer therapy. Eur J Med Chem 230:114109
Clark DW, Phang T, Edwards MG, Geraci MW, Gillespie MN (2012) Promoter G-quadruplex sequences are targets for base oxidation and strand cleavage during hypoxia-induced transcription. Free Radic Biol Med 53:51–59
Cooke MS, Evans MD, Dizdaroglu M, Lunec J (2003) Oxidative DNA damage: mechanisms, mutation, and disease. FASEB J 17:1195–1214
Coppede F, Migliore L (2010) DNA repair in premature aging disorders and neurodegeneration. Curr Aging Sci 3:3–19
Cuollo L, Antonangeli F, Santoni A, Soriani A (2020) The senescence-associated secretory phenotype (SASP) in the challenging future of cancer therapy and age-related diseases. Biology 9:485
David SS, O’Shea VL, Kundu S (2007) Base-excision repair of oxidative DNA damage. Nature 447:941–950
Del Nagro CJ et al (2014) Chk1 inhibition in p53-deficient cell lines drives rapid chromosome fragmentation followed by caspase-independent cell death. Cell Cycle 13:303–314
Di Minno A et al (2016) 8-hydroxy-2-deoxyguanosine levels and cardiovascular disease: a systematic review and meta-analysis of the literature. Antioxid Redox Signal 24:548–555
Doskey CM et al (2016) Tumor cells have decreased ability to metabolize H(2)O(2): implications for pharmacological ascorbate in cancer therapy. Redox Biol 10:274–284
Faheem MM et al (2020) Convergence of therapy-induced senescence (TIS) and EMT in multistep carcinogenesis: current opinions and emerging perspectives. Cell Death Discov 6:51–51
Fleming AM, Ding Y, Burrows CJ (2017a) Oxidative DNA damage is epigenetic by regulating gene transcription via base excision repair. Proc Natl Acad Sci 114:2604–2609
Fleming AM, Zhu J, Ding Y, Burrows CJ (2017b) 8-Oxo-7,8-dihydroguanine in the context of a gene promoter G-quadruplex is an on–off switch for transcription. ACS Chem Biol 12:2417–2426
Fortini P (2003) 8-Oxoguanine DNA damage: at the crossroad of alternative repair pathways. Mutat Res 531:127–139
Garcia-Esparcia P et al (2017) Dementia with Lewy bodies: molecular pathology in the frontal cortex in typical and rapidly progressive forms. Front Neurol 8:89
Grootaert MOJ et al (2018) Vascular smooth muscle cell death, autophagy and senescence in atherosclerosis. Cardiovasc Res 114:622–634
Grundy GJ, Parsons JL (2020) Base excision repair and its implications to cancer therapy. Essays Biochem 64:831–843
Grünewald A, Kumar KR, Sue CM (2019) New insights into the complex role of mitochondria in Parkinson’s disease. Prog Neurobiol 177:73–93
Guevara NV, Kim H-S, Antonova EI, Chan L (1999) The absence of p53 accelerates atherosclerosis by increasing cell proliferation in vivo. Nat Med 5:335–339
Haider L et al (2011) Oxidative damage in multiple sclerosis lesions. Brain 134:1914–1924
Hanahan D, Weinberg RA (2011) Hallmarks of cancer: the next generation. Cell 144:646–674
Hawk MA, McCallister C, Schafer ZT (2016) Antioxidant activity during tumor progression: a necessity for the survival of cancer cells? Cancers 8:92
Heitzer E, Tomlinson I (2014) Replicative DNA polymerase mutations in cancer. Curr Opin Genet Dev 24:107–113
Helleday T, Petermann E, Lundin C, Hodgson B, Sharma RA (2008) DNA repair pathways as targets for cancer therapy. Nat Rev Cancer 8:193–204
Henning RJ, Bourgeois M, Harbison RD (2018) Poly(ADP-ribose) polymerase (PARP) and PARP inhibitors: mechanisms of action and role in cardiovascular disorders. Cardiovasc Toxicol 18:493–506
Hiraku Y (2010) Formation of 8-nitroguanine, a nitrative DNA lesion, in inflammation-related carcinogenesis and its significance. Environ Health Prev Med 15:63–72
Hu C-W, Chang Y-J, Chen J-L, Hsu Y-W, Chao M-R (2018) Sensitive detection of 8-nitroguanine in DNA by chemical derivatization coupled with online solid-phase extraction LC-MS/MS. Molecules 23:605
Hung RJ, Hall J, Brennan P, Boffetta P (2005) Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review. Am J Epidemiol 162:925–942
Jackson SP, Bartek J (2009) The DNA-damage response in human biology and disease. Nature 461:1071–1078
Knijnenburg TA et al (2018) Genomic and molecular landscape of DNA damage repair deficiency across the cancer genome atlas. Cell Rep 23:239–254.e6
Kobaisi F et al (2019) Signaling pathways, chemical and biological modulators of nucleotide excision repair: the faithful shield against UV genotoxicity. Oxidative Med Cell Longev 2019:1–18
Kong Q, Lin CG (2010) Oxidative damage to RNA: mechanisms, consequences, and diseases. Cell Mol Life Sci 67:1817–1829
Korkmaz KS, Butuner BD, Roggenbuck D (2018) Detection of 8-OHdG as a diagnostic biomarker. J Lab Precis Med 3:95
Kroese LJ, Scheffer PG (2014) 8-Hydroxy-2′-Deoxyguanosine and cardiovascular disease: a systematic review. Curr Atheroscler Rep 16:452
Kumari R, Jat P (2021) Mechanisms of cellular senescence: cell cycle arrest and senescence associated secretory phenotype. Front Cell Dev Biol 9:645593
Leandro GS, Sykora P, Bohr VA (2015) The impact of base excision DNA repair in age-related neurodegenerative diseases. Mutat Res 776:31–39
Lee T-H, Kang T-H (2019) DNA oxidation and excision repair pathways. Int J Mol Sci 20:6092
Li K, Luo H, Huang L, Luo H, Zhu X (2020) Microsatellite instability: a review of what the oncologist should know. Cancer Cell Int 20:16
Lisanti MP et al (2011) Hydrogen peroxide fuels aging, inflammation, cancer metabolism and metastasis: the seed and soil also needs ‘fertilizer’. Cell Cycle 10:2440–2449
Liu J et al (2019) Study on the prognostic value of aberrant antigen in patients with acute B lymphocytic leukemia. Clin Lymphoma Myeloma Leuk 19:e349–e358
Mak TW, Ludger H, Daniela G, Filio B (2017) p53 regulates the cardiac transcriptome. Proc Natl Acad Sci 114:2331–2336
Marshall B, Warren JR (1984) Unidentified curved bacilli in the stomach of patients with gastritis and peptic ulceration. Lancet 323:1311–1315
Marshall B, Warren JR (2005) Press release. NobelPrize.org. Nobel Prize Outreach AB 2022. https://www.nobelprize.org/prizes/medicine/2005/press-release/. Accessed 28 Dec 2022
Martínez de Toda I, Ceprián N, Díaz-Del Cerro E, De la Fuente M (2021) The role of immune cells in Oxi-Inflamm-aging. Cell 10:2974
Maynard S, Schurman SH, Harboe C, de Souza-Pinto NC, Bohr VA (2008) Base excision repair of oxidative DNA damage and association with cancer and aging. Carcinogenesis 30:2–10
Maynard S, Schurman SH, Harboe C, de Souza-Pinto NC, Bohr VA (2009) Base excision repair of oxidative DNA damage and association with cancer and aging. Carcinogenesis 30:2–10
McKinnon PJ (2009) DNA repair deficiency and neurological disease. Nat Rev Neurosci 10:100–112
Melis JPM, van Steeg H, Luijten M (2013) Oxidative DNA damage and nucleotide excision repair. Antioxid Redox Signal 18:2409–2419
Men H et al (2021) The regulatory roles of p53 in cardiovascular health and disease. Cell Mol Life Sci 78:2001–2018
Milanowska K et al (2011) REPAIRtoire—a database of DNA repair pathways. Nucleic Acids Res 39:D788–D792
Moehle EA et al (2007) Targeted gene addition into a specified location in the human genome using designed zinc finger nucleases. Proc Natl Acad Sci U S A 104:3055–3060
Moroni F (2008) Poly(ADP-ribose)polymerase 1 (PARP-1) and postischemic brain damage. Neurosciences 8:96–103
Nelson G, Kucheryavenko O, Wordsworth J, von Zglinicki T (2018) The senescent bystander effect is caused by ROS-activated NF-κB signalling. Mech Ageing Dev 170:30–36
Nikolaishvilli-Feinberg N et al (2014) Development of DNA damage response signaling biomarkers using automated, quantitative image analysis. J Histochem Cytochem 62:185–196
Ohshima H, Sawa T, Akaike T (2006) 8-nitroguanine, a product of nitrative DNA damage caused by reactive nitrogen species: formation, occurrence, and implications in inflammation and carcinogenesis. Antioxid Redox Signal 8:1033–1045
Pacher P, Szabó C (2007) Role of poly(ADP-ribose) polymerase 1 (PARP-1) in cardiovascular diseases: the therapeutic potential of PARP inhibitors. Cardiovasc Drug Rev 25:235–260
Poetsch AR (2020) The genomics of oxidative DNA damage, repair, and resulting mutagenesis. Comput Struct Biotechnol J 18:207–219
Pole A, Dimri M, Dimri GP (2016) Oxidative stress, cellular senescence and ageing. AIMS Mol Sci 3:300–324
Richardson C, Horikoshi N, Pandita TK (2004) The role of the DNA double-strand break response network in meiosis. DNA Repair (Amst) 3:1149–1164
Ryan NAJ et al (2017) Association of mismatch repair mutation with age at cancer onset in lynch syndrome: implications for stratified surveillance strategies. JAMA Oncol 3:1702–1706
Sahan AZ, Hazra TK, Das S (2018) The pivotal role of DNA repair in infection mediated- inflammation and cancer. Front Microbiol 9:663
Schneider JG et al (2006) ATM-dependent suppression of stress signaling reduces vascular disease in metabolic syndrome. Cell Metab 4:377–389
Senoner T, Dichtl W (2019) Oxidative stress in cardiovascular diseases: still a therapeutic target? Nutrients 11:2090
Shah PD et al (2021) Combination ATR and PARP inhibitor (CAPRI): a phase 2 study of ceralasertib plus olaparib in patients with recurrent, platinum-resistant epithelial ovarian cancer. Gynecol Oncol 163:246–253
Sharifi-Rad M et al (2020) Lifestyle, oxidative stress, and antioxidants: back and forth in the pathophysiology of chronic diseases. Front Physiol 11:694
Shen L et al (2016) MSeqDR: a centralized knowledge repository and bioinformatics web resource to facilitate genomic investigations in mitochondrial disease. Hum Mutat 37:540–548
Sliwinska A et al (2016) The levels of 7,8-dihydrodeoxyguanosine (8-oxoG) and 8-oxoguanine DNA glycosylase 1 (OGG1) – a potential diagnostic biomarkers of Alzheimer’s disease. J Neurol Sci 368:155–159
Slupphaug G (2003) The interacting pathways for prevention and repair of oxidative DNA damage. Mutat Res 531:231–251
Suzuki T, Kamiya H (2017) Mutations induced by 8-hydroxyguanine (8-oxo-7,8-dihydroguanine), a representative oxidized base, in mammalian cells. Genes Environ 39:2
Thrasher P, Singh M, Singh K (2017) Ataxia-telangiectasia mutated kinase: role in myocardial remodeling. J Rare Dis Res Treat 2:32–37
Tiwari V, Wilson DM 3rd. (2019) DNA damage and associated DNA repair defects in disease and premature aging. Am J Hum Genet 105:237–257
Turgeon M-O, Perry NJS, Poulogiannis G (2018) DNA damage, repair, and cancer metabolism. Front Oncol 8:15
Van Houten B, Santa-Gonzalez GA, Camargo M (2018) DNA repair after oxidative stress: current challenges. Curr Opin Toxicol 7:9–16
Venesio T, Balsamo A, D’Agostino VG, Ranzani GN (2012) MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors. Front Oncol 2:83–83
Watanabe S, Kawamoto S, Ohtani N, Hara E (2017) Impact of senescence-associated secretory phenotype and its potential as a therapeutic target for senescence-associated diseases. Cancer Sci 108:563–569
Weissman L et al (2007) Defective DNA base excision repair in brain from individuals with Alzheimer’s disease and amnestic mild cognitive impairment. Nucleic Acids Res 35:5545–5555
Xia S, Wu S, Wang M (2021) The association between the XRCC1 Arg399Gln polymorphism and the risk of head and neck cancer: an updated meta-analysis including 14586 subjects. Technol Cancer Res Treat 20:15330338211033060
Xie Y et al (2004) Deficiencies in mouse Myh and Ogg1 result in tumor predisposition and G to T mutations in codon 12 of the K-Ras oncogene in lung tumors. Cancer Res 64:3096–3102
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Panda, S., Chatterjee, O., Mukherjee, G., Chatterjee, S. (2023). Human Diseases Induced by Oxidative Damage in DNA. In: Chatterjee, S., Chattopadhyay, S. (eds) Nucleic Acid Biology and its Application in Human Diseases. Springer, Singapore. https://doi.org/10.1007/978-981-19-8520-1_5
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DOI: https://doi.org/10.1007/978-981-19-8520-1_5
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