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dc.description.abstractParkinson’s disease (PD) is a neurodegenerative disorder characterised by a decrease in dopamine and dopaminergic neurons. The main symptoms of this disease are motor symptoms, however, these are frequently accompanied by non-motor symptoms which occur as a consequence of a degenerating serotonergic system. PD pathogenesis has been reported to be associated with the serotonin transporter (5-HTT) gene (SLC6A4) polymorphism, the 5-HTT-linked polymorphic region (5-HTTLPR). The 5-HTT protein is involved in the presynaptic reuptake of serotonin (5-HT) from the synaptic cleft. The 5-HTTLPR polymorphism is a 42 base-pair (bp) insertion/deletion within a repeat region in the promoter of SLC6A4 which results in a short (S) allele and a long (L) allele, consisting of 14 and 16 repeats, respectively. The transcript produced by both alleles is the same, however, the amount of transcript and therefore the amount of 5-HTT protein produced differs. Compared to the L allele, the S allele produces less 5- HTT resulting in decreased serotonin reuptake. In this research project, the Maltese Geoparkinson collection was investigated with the aim to determine if there is an association between the S allele and the risk of PD in the Maltese. Polymerase chain reaction (PCR) of the SLC6A4 promoter region followed by sizing using electrophoresis was used to test for the 5-HTTLPR. From the analysis of the obtained genotype data, no association between the S allele and PD was demonstrated in the Maltese population, not even upon gender stratification or in combination with reported exposure to solvents, pesticides, iron, manganese and copper. Furthermore, the S allele was not found to increase risk for depression. However, a protective effect by the L allele in PD smokers that was completely lost in S/S individuals was discovered in the Maltese population.en_GB
dc.subjectParkinson's diseaseen_GB
dc.subjectNervous system -- Degenerationen_GB
dc.titleThe 5-HTTLPR promoter polymorphism in Parkinson’s diseaseen_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.publisher.institutionUniversity of Maltaen_GB
dc.publisher.departmentFaculty of Health Sciences. Department of Applied Biomedical Scienceen_GB
dc.contributor.creatorMuscat, Ylenia-
Appears in Collections:Dissertations - FacHSc - 2017
Dissertations - FacHScABS - 2017

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