Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/28034
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dc.contributor.authorZahra, Charmaine-
dc.contributor.authorTabone, Christine-
dc.contributor.authorCamilleri, Graziella-
dc.contributor.authorFelice, Alex E.-
dc.contributor.authorFarrugia, Rosienne-
dc.contributor.authorBezzina Wettinger, Stephanie-
dc.date.accessioned2018-03-16T13:17:31Z-
dc.date.available2018-03-16T13:17:31Z-
dc.date.issued2016-
dc.identifier.citationZahra, C., Tabone, C., Camilleri, G., Felice, A. E., Farrugia, R., & Bezzina Wettinger, S. (2016). Genetic causes of Parkinson’s disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR. BMC Medical Genetics, 17(1), 65.en_GB
dc.identifier.urihttps://www.um.edu.mt/library/oar//handle/123456789/28034-
dc.descriptionThe samples and data used in this study were collected as part of the 5th framework (FP5) EU funded Geoparkinson study, project number QLK4‐CT‐ 1999‐01133. The Maltese arm of this group included Prof Christian Scerri, Dr Joseph Borg, Dr Karen Cassar, Ms Wilma Cassar, Ms Ruth Galdies, Dr Norbert Vella, Dr Vicky Mifsud, Dr Josanne Aquilina and Dr Galea Debono.en_GB
dc.description.abstractBackground: Mutations in Leucine-rich repeat kinase 2 NM_198578 (LRRK2 c.6055G>A (p.G2019S), LRRK2 c.4321C>G (p.R1441G)) and alpha-synuclein NM_000345 (SNCA c.209G>A (p.A53T)) genes causing Parkinson's disease (PD) are common in Mediterranean populations. Variants in the Quinoid Dihydropteridine Reductase NM_000320 (QDPR c.68G>A (p.G23D)), Sepiapterin Reductase NM_003124 (SPR c.596-2A>G) and Methylenetetrahydrofolate Reductase NM_005957 (MTHFR c.677C>T and c.1298A>C) genes are frequent in Malta and potential candidates for PD. Methods: 178 cases and 402 control samples from Malta collected as part of the Geoparkinson project were genotyped for MTHFR polymorphisms, QDPR and SPR mutations. Only PD and parkinsonism cases were tested for SNCA and LRRK2 mutations. Results: LRRK2 c.4321C>G and SNCA c.209G>A were not detected. The LRRK2 c.6055G>A mutation was found in 3.1 % of Maltese PD cases. The QDPR mutation was found in both cases and controls and did not increase risk for PD. The SPR mutation was found in controls only. The odds ratios for MTHFR polymorphisms were not elevated. Conclusions: The LRRK2 c.6055G>A is a cause of PD in the Maltese, whilst QDPR c.68G>A, SPR c.596-2A>G and MTHFR c.677C>T and c.1298A>C are not important determinants of PD.en_GB
dc.description.sponsorshipThe samples and data used in this study were collected as part of the 5th framework (FP5) EU funded Geoparkinson study, project number QLK4‐CT‐ 1999‐01133. This work was supported by research grants of SBW and RF from the University of Malta. The funders played no other part in the research or its interpretation.en_GB
dc.language.isoenen_GB
dc.publisherBMCen_GB
dc.rightsinfo:eu-repo/semantics/openAccessen_GB
dc.subjectMethylenetetrahydrofolate reductaseen_GB
dc.subjectParkinson's disease -- Maltaen_GB
dc.titleGenetic causes of Parkinson’s disease in the Maltese : a study of selected mutations in LRRK2, MTHFR, QDPR and SPRen_GB
dc.typearticleen_GB
dc.rights.holderThe copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder.en_GB
dc.description.reviewedpeer-revieweden_GB
dc.identifier.doi10.1186/s12881-016-0327-x-
dc.publication.titleBMC Medical Geneticsen_GB
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