The C609T inborn polymorphism in NAD(P)H:quinone oxidoreductase 1 is associated with susceptibility to multiple sclerosis and affects the risk of development of the primary progressive form of the disease

Stavropoulou, Chryssa; Zachaki, Sophia; Alexoudi, Athanasia; Chatzi, Ioanna; Georgakakos, Vasileios N.; Terzoudi, Georgia I.; Pantelias, Gabriel E.; Karageorgiou, Clementine; Sambani, Constantina

doi:10.1016/j.freeradbiomed.2011.04.043

Cited by 18 publications

(21 citation statements)

References 27 publications

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“…In contrast with the findings in the study by Stavropoulou et al [42], we did not find significant differences either in the frequencies of rs1800566 genotypes, or in the frequencies of the allelic variants of this polymorphism in patients with MS when compared with healthy controls. In addition, rs1800566 polymorphism was neither associated with age at onset of MS, nor with clinical type of MS.…”

Section: Discussioncontrasting

confidence: 99%

“…Moreover, NQO1 has been found to be markedly up-regulated in active demyelinating MS lesions [13,14] Stavropoulou et al [42], in a case–control association study involving 231 MS patients and 380 controls, reported an association between the rs1800566CT and TT genotypes and the risk of developing MS, and a higher incidence of rs1800566CT genotype in patients with primary progressive MS. The aim of the present study was to replicate the findings by Stavropoulou et al [42] in the Spanish population.…”

Section: Introductionmentioning

confidence: 99%

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NQO1gene rs1800566 variant is not associated with risk for multiple sclerosis

et al. 2014

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BackgroundA possible role of oxidative stress in the pathogenesis of multiple sclerosis (MS) and in experimental autoimmune encephalomyelitis has been suggested. The detoxification enzyme NAD(P)H dehydrogenase, quinone 1 (NQO1) has been found up-regulated in MS lesions. A previous report described an association between the SNP rs1800566 in the NQO1 gene and the risk for MS in the Greek population. The aim of this study was to replicate a possible influence of the. SNP rs1800566 in the NQO1 gene in the risk for MS in the Spanish Caucasian population.MethodsWe analyzed allelic and genotypic frequency of NQO1 rs1800566 in 290 patients with MS and 310 healthy controls, using TaqMan Assays.ResultsNQO1 rs1800566 allelic and genotypic frequencies did not differ significantly between MS patients and controls, and were unrelated with age of onset of MS, gender, and clinical type of MS.ConclusionsOur results indicate that NQO1 rs1800566 does not have an effect on MS disease risk.

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Section: Discussioncontrasting

confidence: 99%

Section: Introductionmentioning

confidence: 99%

NQO1gene rs1800566 variant is not associated with risk for multiple sclerosis

et al. 2014

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“…In this line, similar findings are reported in other studies highlighting the presence of oxidative damage both in blood and nerve tissue samples from patients with MS and in experimental autoimmune encephalitis (EAE) models [18][19][20][21][22].…”

Section: Discussionsupporting

confidence: 89%

Peripheral oxidative stress in relapsing–remitting multiple sclerosis

Tasset

Agüera

Sánchez-López

et al. 2012

Clinical Biochemistry

104

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“…Pharmacological modulation of cellular stress pathways has emerging implications in the treatment of several human diseases [15]. Consistent with this notion, inactivating polymorphisms of genes encoding detoxification enzymes, such as NAD(P)H:quinone oxidoreductase 1 (NQO1), has been recently reported to be associated with increased susceptibility to MS, suggesting a possible role for the NQO1 genetic background in the development of primary progressive MS [68]. Based on the overlapping inducibility of the cytoprotective phase 2 response and the vitagene network, there is now proven explanation for sensing mechanism of the initial chemical signal that ultimately leads to enhanced gene expression.…”

Section: Discussionmentioning

confidence: 88%

Redox regulation of cellular stress response in multiple sclerosis

Pennisi

Cornelius

Cavallaro

et al. 2011

Biochemical Pharmacology

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Multiple sclerosis (MS) is an autoimmune-mediated neurodegenerative disease with characteristic foci of inflammatory demyelination in the brain, spinal cord, and optic nerves. Recent studies have demonstrated not only that axonal damage and neuronal loss are significant pathologic components of MS, but that this neuronal damage is thought to cause the permanent neurologic disability often seen in MS patients. Emerging finding suggests that altered redox homeostasis and increased oxidative stress, primarily implicated in the pathogenesis of MS, are a trigger for activation of a brain stress response. Relevant to maintenance of redox homeostasis, integrated mechanisms controlled by vitagenes operate in brain in preserving neuronal survival during stressful conditions. Vitagenes encode for heat shock proteins (Hsp) Hsp32, Hsp70, the thioredoxin and the sirtuin protein systems. In the present study we assess stress response mechanisms in the CSF, plasma and lymphocytes of control patients compared to MS patients. We found that the levels of vitagenes Hsp72, Hsc70, HO-1, as well as oxidative stress markers carbonyls and hydroxynonenals were significantly higher in the blood and CSF of MS patients than in control patients. In addition, an increased expression of Trx and sirtuin 1, together with a decrease in the expression of TrxR were observed. Our data strongly support a pivotal role for redox homeostasis disruption in the pathogenesis of MS and, consistently with the notion that new therapies that prevent neurodegeneration through nonimmunomodulatory mechanisms can have a tremendous potential to work synergistically with current MS therapies, unravel important targets for new cytoprotective strategies

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The C609T inborn polymorphism in NAD(P)H:quinone oxidoreductase 1 is associated with susceptibility to multiple sclerosis and affects the risk of development of the primary progressive form of the disease

Cited by 18 publications

References 27 publications

NQO1gene rs1800566 variant is not associated with risk for multiple sclerosis

NQO1gene rs1800566 variant is not associated with risk for multiple sclerosis

Peripheral oxidative stress in relapsing–remitting multiple sclerosis

Redox regulation of cellular stress response in multiple sclerosis

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