Comprehensive assessment of genetic sequence variants in the antioxidant 'master regulator' Nrf2 in idiopathic parkinson's disease

PLoS ONE

Volumn 10, Issue 5, 2015, Pages

  Todorovic, Michael ^a   Newman, Jeremy R B ^a   Shan, Jianguo ^a   Bentley, Steven ^a   Wood, Stephen A ^a   Silburn, Peter A ^b   Mellick, George D ^a,b  

^a GRIFFITH UNIVERSITY   (Australia)

^b UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

KELCH LIKE ECH ASSOCIATED PROTEIN 1; PESTICIDE; ROTENONE; TRANSCRIPTION FACTOR NRF2; NFE2L2 PROTEIN, HUMAN;

ADULT; ARTICLE; CELL CULTURE; CELL VIABILITY; CONTROLLED STUDY; ENVIRONMENTAL EXPOSURE; EXON; FEMALE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; GENOTYPE ENVIRONMENT INTERACTION; HAPLOTYPE; HIGH RESOLUTION MELTING ANALYSIS; HOMOZYGOSITY; HUMAN; HUMAN CELL; IDIOPATHIC DISEASE; MAJOR CLINICAL STUDY; MALE; NFE2L2 GENE; ONSET AGE; OXIDATIVE STRESS; PARKINSON DISEASE; PROMOTER REGION; PROTEIN EXPRESSION; PROTEIN FUNCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING; AGED; AUSTRALIA; CASE CONTROL STUDY; CELL LINE; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; VERY ELDERLY;

AGE OF ONSET; AGED; AGED, 80 AND OVER; AUSTRALIA; CASE-CONTROL STUDIES; CELL LINE; FEMALE; GENE-ENVIRONMENT INTERACTION; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; NF-E2-RELATED FACTOR 2; OXIDATIVE STRESS; PARKINSON DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84930225088     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0128030     Document Type: Article

References (25)

1. Lin MT, Beal MF. Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases. Nature, 2006. 443(7113):787-95. PMID: 17051205
2. McGeer PL, Itagaki S, Boyes BE, McGeer EG. Reactive microglia are positive for HLA-DR in the substantia nigra of Parkinson's and Alzheimer's disease brains. Neurology, 1988. 38(8):1285-91. PMID: 3399080
3. Czlonkowska A, Kohutnicka M, Kurkowska-Jastrzebska I, Czlonkowski A. Microglial reaction in MPTP (1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine) induced Parkinson's disease mice model. Neurodegeneration, 1996. 5(2):137-43. PMID: 8819134
4. Matigian N, Abrahamsen G, Sutharsan R, Cook AL, Vitale AM, Nouwens A, et al. Disease-specific, neurosphere-derived cells as models for brain disorders. Dis Model Mech, 2010. 3(11-12):785-98. doi: 10.1242/dmm.004952 PMID: 20075376
5. Alfieri A, Srivastava S, Siow RC, Modo M, Fraser PA, Mann GE. Targeting the Nrf2-Keap1 antioxidant defence pathway for neurovascular protection in stroke. J Physiol, 2011. 589(Pt 17):4125-36. doi: 10.1113/jphysiol.2011.210294 PMID: 21646410
6. Sykiotis GP, Habeos IG, Samuelson AV, Bohmann D. The role of the antioxidant and longevity-promoting Nrf2 pathway in metabolic regulation. Curr Opin Clin Nutr Metab Care, 2011. 14(1):41-8. doi: 10.1097/MCO.0b013e32834136f2 PMID: 21102319
7. Kaidery NA, Banerjee R, Yang L, Smirnova NA, Hushpulian DM, Liby KT, et al. Targeting Nrf2-mediated gene transcription by extremely potent synthetic triterpenoids attenuate dopaminergic neurotoxicity in the MPTP mouse model of Parkinson's disease. Antioxid Redox Signal, 2013. 18(2): p. 139-57. doi: 10.1089/ars.2011.4491 PMID: 22746536
8. Lou H, Jing X, Wei X, Shi H, Ren D, Zhang X. Naringenin protects against 6-OHDA-induced neurotoxicity via activation of the Nrf2/ARE signaling pathway. Neuropharmacology, 2014. 79:380-8. doi: 10.1016/j.neuropharm.2013.11.026 PMID: 24333330
9. Song J, Kang SM, Lee WT, Park KA, Lee KM, Lee JE. Glutathione protects brain endothelial cells from hydrogen peroxide-induced oxidative stress by increasing nrf2 expression. Exp Neurobiol, 2014. 23(1):93-103. doi: 10.5607/en.2014.23.1.93 PMID: 24737944
10. Suh JH, Shenvi SV, Dixon BM, Liu H, Jaiswal AK, Liu RM, et al. Decline in transcriptional activity of Nrf2 causes age-related loss of glutathione synthesis, which is reversible with lipoic acid. Proc Natl Acad Sci U S A, 2004. 101(10):3381-6. PMID: 14985508
11. Alam ZI, Daniel SE, Lees AJ, Marsden DC, Jenner P, Halliwell B. A generalised increase in protein carbonyls in the brain in Parkinson's but not incidental Lewy body disease. J Neurochem, 1997. 69(3):1326-9. PMID: 9282961
12. Settivari R, VanDuyn N, LeVora J, Nass R. The Nrf2/SKN-1-dependent glutathione S-transferase pi homologue GST-1 inhibits dopamine neuron degeneration in a Caenorhabditis elegans model of manganism. Neurotoxicology, 2013. 38:51-60. doi: 10.1016/j.neuro.2013.05.014 PMID: 23721876
13. Innamorato NG, Jazwa A, Rojo AI, Garcia C, Fernandez-Ruiz J, Grochot-Przeczek A, et al. Different susceptibility to the Parkinson's toxin MPTP in mice lacking the redox master regulator Nrf2 or its target gene heme oxygenase-1. PLoS One, 2010. 5(7): e11838. doi: 10.1371/journal.pone.0011838 PMID: 20676377
14. Chien WL, Lee TR, Hung SY, Kang KH, Lee MJ, Fu WM. Impairment of oxidative stress-induced heme oxygenase-1 expression by the defect of Parkinson-related gene of PINK1. J Neurochem, 2011. 117(4):643-53. doi: 10.1111/j.1471-4159.2011.07229.x PMID: 21366594
15. Xiao H, Lv F, Xu W, Zhang L, Jing P, Cao X. Deprenyl prevents MPP(+)-induced oxidative damage in PC12 cells by the upregulation of Nrf2-mediated NQO1 expression through the activation of PI3K/Akt and Erk. Toxicology, 2011. 290(2-3):286-94. doi: 10.1016/j.tox.2011.10.016 PMID: 22064374
16. Cook AL, Vitale AM, Ravishankar S, Matigian N, Sutherland GT, Shan J, et al. NRF2 activation restores disease related metabolic deficiencies in olfactory neurosphere-derived cells from patients with sporadic Parkinson's disease. PLoS One, 2011. 6(7):e21907. doi: 10.1371/journal.pone.0021907 PMID: 21747966
17. von Otter M, Landgren S, Nilsson S, Celojevic D, Bergstrom P, Hakansson A, et al. Association of Nrf2-encoding NFE2L2 haplotypes with Parkinson's disease. BMC Med Genet, 2010. 11:36. doi: 10.1186/1471-2350-11-36 PMID: 20196834
18. Chen YC, Wu YR, Wu YC, Lee-Chen GJ, Chen CM. Genetic analysis of NFE2L2 promoter variation in Taiwanese Parkinson's disease. Parkinsonism Relat Disord, 2013. 19(2):247-50. doi: 10.1016/j.parkreldis.2012.10.018 PMID: 23176750
19. Marzec JM, Christie JD, Reddy SP, Jedlicka AE, Vuong H, Lanken PN, et al. Functional polymorphisms in the transcription factor NRF2 in humans increase the risk of acute lung injury. FASEB J, 2007. 21(9):2237-46. PMID: 17384144
20. Sutherland GT, Halliday GM, Silburn PA, Mastaglia FL, Rowe DB, Boyle RS, et al. Do polymorphisms in the familial Parkinsonism genes contribute to risk for sporadic Parkinson's disease? Mov Disord, 2009. 24(6):833-8. doi: 10.1002/mds.22214 PMID: 19224617
21. Gartner CE, Battistutta D, Dunne MP, Silburn PA, Mellick GD. Test-retest repeatability of self-reported environmental exposures in parkinson's disease cases and healthy controls. Parkinsonism & Related Disorders, 2005. 11(5):287-295
22. Payami H, Kay DM, Zabetian CP, Schellenberg GD, Factor SA, McCulloch CC. Visualizing disease associations: graphic analysis of frequency distributions as a function of age uing moving average plots (MAP) with application to Alzheimer's and Parkinson's disease. Genet. Epidemiol., 2010. 34(1):92-9. doi: 10.1002/gepi.20439 PMID: 19582778
23. Hampel R, Schneider A. Bruske I, Zareba W, Cyrys J, Ruckerl R, et al. Altered cardiac repolarization in association with air pollution and air temperature among myocardial infarction survivors. Environ Health Perspect, 2010. 118(12):1755-61. doi: 10.1289/ehp.1001995 PMID: 20846924
24. Mellick GD. CYP450, genetics and Parkinson's disease: gene x environment interactions hold the key. J Neural Transm Suppl, 2006(70:) :159-65. PMID: 17017524
25. Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, et al. Large-scale meta-analysis of genome-wide association data indentifies six new risk loci for Parkinson's disease. Nat Genet, 2014. 46(9):989-93. doi: 10.1038/ng.3043 PMID: 25064009