Single nucleotide polymorphisms in DNA glycosylases: From function to disease

Oxidative stress is associated with a growing number of diseases that span from cancer to neurodegeneration. Most oxidatively induced DNA base lesions are repaired by the base excision repair (BER) pathway which involves the action of various DNA glycosylases. There are numerous genome wide studies...

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Bibliographic Details
Published in:Free radical biology & medicine 2017-06, Vol.107, p.278-291
Main Authors: D’Errico, Mariarosaria, Parlanti, Eleonora, Pascucci, Barbara, Fortini, Paola, Baccarini, Sara, Simonelli, Valeria, Dogliotti, Eugenia
Format: Article
Language:English
Subjects:
Cochlear Diseases - genetics
DNA Damage
DNA glycosylases
DNA Glycosylases - genetics
DNA Repair
Eye Diseases - genetics
Genetic Predisposition to Disease
Genotype
Humans
Myocardial Infarction - genetics
Neoplasms - genetics
Neurodegenerative Diseases - genetics
Oxidative Stress
Oxidative stress related pathologies
Phenotype
Polymorphism, Single Nucleotide
Single nucleotide polymorphisms
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Summary:Oxidative stress is associated with a growing number of diseases that span from cancer to neurodegeneration. Most oxidatively induced DNA base lesions are repaired by the base excision repair (BER) pathway which involves the action of various DNA glycosylases. There are numerous genome wide studies attempting to associate single-nucleotide polymorphisms (SNPs) with predispositions to various types of disease; often, these common variants do not have significant alterations in their biochemical function and do not exhibit a convincing phenotype. Nevertheless several lines of evidence indicate that SNPs in DNA repair genes may modulate DNA repair capacity and contribute to risk of disease. This overview provides a convincing picture that SNPs of DNA glycosylases that remove oxidatively generated DNA lesions are susceptibility factors for a wide disease spectrum that includes besides cancer (particularly lung, breast and gastrointestinal tract), cochlear/ocular disorders, myocardial infarction and neurodegenerative disorders which can be all grouped under the umbrella of oxidative stress-related pathologies. •SNPs in DNA glycosylases may modulate DNA repair capacity.•SNPs in DNA glycosylases are susceptibility factors for various diseases.•The associated diseases all present as major risk factor oxidative stress.
ISSN:0891-5849
1873-4596
DOI:10.1016/j.freeradbiomed.2016.12.002