Single nucleotide polymorphisms in DNA glycosylases: From function to disease.

Area of Science:

• Genetics and Molecular Biology
• Biochemistry
• Pathology

Background:

• Oxidative stress contributes to numerous diseases, including cancer and neurodegeneration.
• The base excision repair (BER) pathway, involving DNA glycosylases, repairs most oxidatively induced DNA base lesions.
• Genome-wide studies often find common single-nucleotide polymorphisms (SNPs) with minimal biochemical impact on disease predisposition.

Purpose of the Study:

• To investigate the role of SNPs in DNA glycosylase genes in disease susceptibility.
• To explore the link between DNA repair capacity, genetic variations, and disease risk.
• To consolidate evidence on SNPs in DNA glycosylases as susceptibility factors for oxidative stress-related pathologies.

Main Methods:

• Review of existing literature and genome-wide association studies.
• Analysis of evidence linking SNPs in DNA repair genes to disease phenotypes.
• Correlation of DNA glycosylase function with disease spectrum.

Main Results:

• SNPs in DNA glycosylase genes can modulate DNA repair capacity.
• These genetic variations are associated with increased risk for a broad range of diseases.
• Evidence supports SNPs in DNA glycosylases as susceptibility factors for oxidative stress-related conditions.

Conclusions:

• SNPs in DNA glycosylases are significant susceptibility factors for diverse diseases.
• These include cancers (lung, breast, gastrointestinal), cochlear/ocular disorders, myocardial infarction, and neurodegenerative disorders.
• The findings underscore the importance of DNA repair gene variations in oxidative stress-related pathologies.