Please use this identifier to cite or link to this item: http://hdl.handle.net/2381/28704
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dc.contributor.authorVittori, Angelica-
dc.contributor.authorOrth, Michael-
dc.contributor.authorRoos, Raymund A. C.-
dc.contributor.authorOuteiro, Tiago F.-
dc.contributor.authorGiorgini, Flaviano-
dc.contributor.authorHollox, Edward J.-
dc.contributor.authorREGISTRY investigators of the European Huntington’s Disease Network-
dc.date.accessioned2014-03-21T15:19:52Z-
dc.date.available2014-03-21T15:19:52Z-
dc.date.issued2013-03-27-
dc.identifier.citationJournal of Huntington's Disease, 2013, 2 (1), pp. 107-124en
dc.identifier.issn1879-6397-
dc.identifier.urihttp://iospress.metapress.com/content/p2271460602l7333/en
dc.identifier.urihttp://hdl.handle.net/2381/28704-
dc.description.abstractBackground: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of a CAG triplet repeat tract in the huntingtin gene. While the length of this CAG expansion is the major determinant of the age of onset (AO), other genetic factors have also been shown to play a modulatory role. Recent evidence suggests that neuroinflammation is a pivotal factor in the pathogenesis of HD, and that targeting this process may have important therapeutic ramifications. The human β-defensin 2 (hBD2) – encoded by DEFB4 – is an antimicrobial peptide that exhibits inducible expression in astrocytes during inflammation and is an important regulator of innate and adaptive immune response. Therefore, DEFB4 may contribute to the neuroinflammatory processes observed in HD. Objective: In this study we tested the hypothesis that copy number variation (CNV) of the β-defensin region, including DEFB4, modifies the AO in HD. Methods and results: We genotyped β-defensin CNV in 490 HD individuals using the paralogue ratio test and found no association between β-defensin CNV and onset of HD. Conclusions: We conclude that it is unlikely that DEFB4 plays a role in HD pathogenesis.en
dc.description.sponsorshipAV is supported by Fundação para Ciência e a Tecnologia (SFRH/BD/4764/2008). TFO was supported by an EMBO Installation Grant and a Marie Curie International Reintegration Grant (Neurofold). FGwas supported by a New Investigator Research Grant from the Medical Research Council (G0700090). EJH was supported by a New Investigator Research Grant from the Medical Research Council (GO801123).en
dc.language.isoenen
dc.publisherIOS Pressen
dc.rightsCopyright © 2013 IOS Press and the authors. This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.en
dc.subjectGenetic modifieren
dc.subjectcopy number variationen
dc.subjectinflammationen
dc.titleβ-defensin genomic copy number does not influence the age of onset in Huntington’s diseaseen
dc.typeJournal Articleen
dc.identifier.doi10.3233/JHD-130047-
dc.identifier.eissn1879-6400-
dc.description.statusPeer-revieweden
dc.description.versionPublisher Versionen
dc.type.subtypeArticle-
pubs.organisational-group/Organisationen
pubs.organisational-group/Organisation/COLLEGE OF MEDICINE, BIOLOGICAL SCIENCES AND PSYCHOLOGYen
pubs.organisational-group/Organisation/COLLEGE OF MEDICINE, BIOLOGICAL SCIENCES AND PSYCHOLOGY/School of Biological Sciencesen
pubs.organisational-group/Organisation/COLLEGE OF MEDICINE, BIOLOGICAL SCIENCES AND PSYCHOLOGY/School of Biological Sciences/Department of Geneticsen
pubs.organisational-group/Organisation/COLLEGE OF MEDICINE, BIOLOGICAL SCIENCES AND PSYCHOLOGY/Themesen
pubs.organisational-group/Organisation/COLLEGE OF MEDICINE, BIOLOGICAL SCIENCES AND PSYCHOLOGY/Themes/Genome Scienceen
pubs.organisational-group/Organisation/COLLEGE OF MEDICINE, BIOLOGICAL SCIENCES AND PSYCHOLOGY/Themes/Neuroscience & Behaviouren
Appears in Collections:Published Articles, Dept. of Genetics

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