Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients

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dc.contributor University of Helsinki, Janna Saarela / Principal Investigator en Cardamone, Giulia Paraboschi, Elvezia Maria Soldà, Giulia Duga, Stefano Saarela, Janna Asselta, Rosanna 2019-02-08T08:13:01Z 2019-02-08T08:13:01Z 2018-12-18
dc.identifier.citation Cardamone , G , Paraboschi , E M , Soldà , G , Duga , S , Saarela , J & Asselta , R 2018 , ' Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients ' , Biomedicines , vol. 6 , no. 4 , 117 . en
dc.identifier.issn 2227-9059
dc.identifier.other PURE: 122066439
dc.identifier.other PURE UUID: 591b4426-7d3d-47c3-9d39-63d9f78e8c3b
dc.identifier.other Bibtex: urn:0c028e48e1b2479b08d64a78ea7c620e
dc.identifier.other ORCID: /0000-0002-0853-6219/work/53825151
dc.identifier.other WOS: 000454850000024
dc.description.abstract Multiple sclerosis (MS) is a chronic neurological disorder characterized by inflammation, demyelination, and axonal damage. Increased levels of reactive oxygen species (ROS), produced by macrophages and leading to oxidative stress, have been implicated as mediators of demyelination and axonal injury in both MS and experimental autoimmune encephalomyelitis, the murine model of the disease. On the other hand, reduced ROS levels can increase susceptibility to autoimmunity. In this work, we screened for association with MS 11 single nucleotide polymorphisms (SNPs) and two microsatellite markers in the five genes (NCF1, NCF2, NCF4, CYBA, and CYBB) of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase (NOX2) system, the enzymatic pathway producing ROS in the brain and neural tissues, in 347 Finnish patients with MS and 714 unaffected family members. This analysis showed suggestive association signals for NCF1 and CYBB (lowest p = 0.038 and p = 0.013, respectively). Functional relevance for disease predisposition was further supported for the CYBB gene, by microarray analysis in CD4+/− mononuclear cells of 21 individuals from five Finnish multiplex MS families, as well as by real-time RT-PCRs performed on RNA extracted from peripheral blood mononuclear cells of an Italian replication cohort of 21 MS cases and 21 controls. Our results showed a sex-specific differential expression of CYBB, suggesting that this gene, and more in general the NOX2 system, deserve to be further investigated for their possible role in MS. fi
dc.format.extent 15
dc.language.iso eng
dc.relation.ispartof Biomedicines
dc.rights en
dc.subject 1184 Genetics, developmental biology, physiology en
dc.subject 3111 Biomedicine en
dc.title Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients en
dc.type Article
dc.description.version Peer reviewed
dc.type.uri info:eu-repo/semantics/other
dc.type.uri info:eu-repo/semantics/publishedVersion

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