Genetic Variations and mRNA Expression of NRF2 in Parkinson’s Disease
Autor: | Anna Anvret, Olof Sydow, Andrea Carmine Belin, L.-A. Brodin, Marie Westerlund, Karin Wirdefeldt, Anders Johansson, Per Svenningsson, Fengqing Xiang, Thomas Willows, Caroline Ran, Mehrafarin Ramezani, Dagmar Galter |
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Jazyk: | angličtina |
Rok vydání: | 2017 |
Předmět: |
0301 basic medicine
Parkinson's disease Article Subject Neuroscience (miscellaneous) Disease Biology medicine.disease_cause digestive system environment and public health lcsh:RC346-429 03 medical and health sciences 0302 clinical medicine Genotype medicine Transcription factor Gene lcsh:Neurology. Diseases of the nervous system Genetics respiratory system medicine.disease Reverse transcription polymerase chain reaction Psychiatry and Mental health 030104 developmental biology Immunology Neurology (clinical) Age of onset 030217 neurology & neurosurgery Oxidative stress Research Article |
Zdroj: | Parkinson's Disease, Vol 2017 (2017) Parkinson's Disease |
ISSN: | 2090-8083 |
DOI: | 10.1155/2017/4020198 |
Popis: | Nuclear factor erythroid 2-like 2 (NRF2) encodes a transcription factor regulating mechanisms of cellular protection and is activated by oxidative stress. NRF2 has therefore been hypothesized to confer protection against Parkinson’s disease and so far an NRF2 haplotype has been reported to decrease the risk of developing disease and delay disease onset. Also NRF2 adopts a nuclear localization in Parkinson’s disease, which is indicative of increased NRF2 activity. We have investigated the association between NRF2 and Parkinson’s disease in a Swedish case-control material and whether NRF2 expression levels correlate with NRF2 genetic variants, disease, or disease onset. Using pyrosequencing, we genotyped one intronic and three promoter variants in 504 patients and 509 control subjects from Stockholm. Further, we quantified NRF2 mRNA expression in EBV transfected human lymphocytes from patients and controls using quantitative real-time reverse transcription PCR. We found that one of the promoter variants, rs35652124, was associated with age of disease onset (Χ2 = 14.19, p value = 0.0067). NRF2 mRNA expression levels however did not correlate with the rs35652124 genotype, Parkinson’s disease, or age of onset in our material. More detailed studies on NRF2 are needed in order to elucidate how this gene affects pathophysiology of Parkinson’s disease. |
Databáze: | OpenAIRE |
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