Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/28034
Title: Genetic causes of Parkinson’s disease in the Maltese : a study of selected mutations in LRRK2, MTHFR, QDPR and SPR
Authors: Zahra, Charmaine
Tabone, Christine
Camilleri, Graziella
Felice, Alex E.
Farrugia, Rosienne
Bezzina Wettinger, Stephanie
Keywords: Methylenetetrahydrofolate reductase
Parkinson's disease -- Malta
Issue Date: 2016
Publisher: BMC
Citation: Zahra, 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.
Abstract: Background: 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.
Description: The 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.
URI: https://www.um.edu.mt/library/oar//handle/123456789/28034
Appears in Collections:Scholarly Works - FacM&SPB

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