Investigation of base excision repair gene variants in late-onset Alzheimer’s disease

• Published in: PloS one Vol. 14; no. 8; p. e0221362
• Main Authors: Ertuzun, Tugce, Semerci, Asli, Cakir, Mehmet Emin, Ekmekcioglu, Aysegul, Gok, Mehmet Oguz, Soltys, Daniela T., de Souza-Pinto, Nadja C., Sezerman, Ugur, Muftuoglu, Meltem
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 15.08.2019; Public Library of Science (PLoS)
• Subjects: Aged; Aged, 80 and over; Alzheimer Disease - genetics; Alzheimer Disease - metabolism; Alzheimer Disease - pathology; Alzheimer's disease; Apolipoprotein E; Apolipoproteins; Apolipoproteins E - genetics; Apolipoproteins E - metabolism; Apoptosis; Autopsy; Base excision repair; Biology and Life Sciences; Biotechnology; Blood; Brain; Cerebellum; Cognitive ability; Cortex (temporal); Damage accumulation; Dementia; Deoxyribonucleic acid; Development and progression; DNA; DNA damage; DNA glycosylase; DNA Glycosylases - genetics; DNA Glycosylases - metabolism; DNA methylation; DNA Polymerase beta - genetics; DNA Polymerase beta - metabolism; DNA Repair; DNA sequencing; Endonuclease; Endonuclease VIII; Epistasis; Etiology; Etiology (Medicine); Female; Gene expression; Gene sequencing; Genes; Genetic aspects; Genetic diversity; Genetic research; Genetic variance; Genetic variation; Genotype & phenotype; Health aspects; Health risk assessment; Humans; Male; Medical schools; Medicine and Health Sciences; Molecular biology; Neurosciences; Next-generation sequencing; Nucleases; Pathogenesis; Peripheral blood; Polymorphism; Polymorphism, Genetic; Post-transcription; Proteins; Pyrimidines; Regulatory genes; Repair; Research and analysis methods; Risk analysis; Risk Factors; Structure; Systematic review; Temporal lobe; Transcription (Genetics); Transcription factors; Uracil; Uracil-DNA Glycosidase - genetics; Uracil-DNA Glycosidase - metabolism; Turkey; Brazil; Istanbul Turkey

Base excision repair (BER) defects and concomitant oxidative DNA damage accumulation play a role in the etiology and progression of late-onset Alzheimer's disease (LOAD). However, it is not known whether genetic variant(s) of specific BER genes contribute to reduced BER activity in LOAD patient...