Associations between DNA damage, DNA base excision repair gene variability and Alzheimer's disease risk

Kwiatkowski, Dominik, Czarny, Piotr, Toma, Monika, Jurkowska, Natalia, Sliwinska, Agnieszka, Drzewoski, Jozef, Bachurska, Agnieszka, Szemraj, Janusz, Maes, Michael, Berk, Michael, Su, Kuan-Pin, Galecki, Piotr and Sliwinski, Tomasz 2016, Associations between DNA damage, DNA base excision repair gene variability and Alzheimer's disease risk, Dementia and geriatric cognitive disorders, vol. 41, no. 3-4, pp. 152-171, doi: 10.1159/000443953.

Attached Files
Name Description MIMEType Size Downloads

Title Associations between DNA damage, DNA base excision repair gene variability and Alzheimer's disease risk
Author(s) Kwiatkowski, Dominik
Czarny, Piotr
Toma, Monika
Jurkowska, Natalia
Sliwinska, Agnieszka
Drzewoski, Jozef
Bachurska, Agnieszka
Szemraj, Janusz
Maes, Michael
Berk, MichaelORCID iD for Berk, Michael
Su, Kuan-Pin
Galecki, Piotr
Sliwinski, Tomasz
Journal name Dementia and geriatric cognitive disorders
Volume number 41
Issue number 3-4
Start page 152
End page 171
Total pages 20
Publisher Karger
Place of publication Basel, Switzerland
Publication date 2016
ISSN 1421-9824
Keyword(s) DNA damage
DNA base excision repair
Alzheimer’s disease risk
Oxidative stress
Science & Technology
Life Sciences & Biomedicine
Geriatrics & Gerontology
Clinical Neurology
Neurosciences & Neurology
Alzheimer's disease risk
Summary BACKGROUND: Increased oxidative damage to DNA is one of the pathways involved in Alzheimer's disease (AD). Insufficient base excision repair (BER) is in part responsible for increased oxidative DNA damage. The aim of the present study was to assess the effect of polymorphic variants of BER-involved genes and the peripheral markers of DNA damage and repair in patients with AD. MATERIAL AND METHODS: Comet assays and TaqMan probes were used to assess DNA damage, BER efxFB01;ciency and polymorphic variants of 12 BER genes in blood samples from 105 AD patients and 130 controls. The DNA repair efficacy (DRE) was calculated according to a specific equation. RESULTS: The levels of endogenous and oxidative DNA damages were higher in AD patients than controls. The polymorphic variants of XRCC1 c.580C>T XRCC1 c.1196A>G and OGG1 c.977C>G are associated with increased DNA damage in AD. CONCLUSION: Our results show that oxidative stress and disturbances in DRE are particularly responsible for the elevated DNA lesions in AD. The results suggest that oxidative stress and disruption in DNA repair may contribute to increased DNA damage in AD patients and risk of this disease. In addition, disturbances in DRE may be associated with polymorphisms of OGG1 and XRCC1.
Language eng
DOI 10.1159/000443953
Field of Research 110319 Psychiatry (incl Psychotherapy)
1103 Clinical Sciences
1702 Cognitive Science
1109 Neurosciences
Socio Economic Objective 920410 Mental Health
HERDC Research category C1 Refereed article in a scholarly journal
ERA Research output type C Journal article
Copyright notice ©2016, S. Karger AG
Persistent URL

Document type: Journal Article
Collections: Faculty of Health
School of Medicine
Connect to link resolver
Unless expressly stated otherwise, the copyright for items in DRO is owned by the author, with all rights reserved.

Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 14 times in TR Web of Science
Scopus Citation Count Cited 13 times in Scopus
Google Scholar Search Google Scholar
Access Statistics: 472 Abstract Views, 3 File Downloads  -  Detailed Statistics
Created: Fri, 27 May 2016, 18:46:22 EST

Every reasonable effort has been made to ensure that permission has been obtained for items included in DRO. If you believe that your rights have been infringed by this repository, please contact