1. PARKINSON’S DISEASE: DO SUMO GENE VARIANTS PLAY A ROLE IN ETIOPATHOGENESIS?
- Author
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Yuceer, Hande, Kucukali, Cem Ismail, Tuzun, Erdem, Bilgic, Basar, Ergen, Arzu, and Hanagasi, Hasmet Ayhan
- Subjects
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NUCLEOTIDE sequencing , *SINGLE nucleotide polymorphisms , *TURKS , *GENETIC variation , *PROTEOLYSIS , *BRAIN banks - Abstract
OBJECTIVES: The etiopathogenesis of Parkinson’s Disease (PD) is not fully known. However, molecular pathology in PD is thought to be in three main axes. The first of these is the ubiquitin / proteasome system, which is responsible for a significant part of protein degradation activity in the cell. The second major axis is mitochondria, which are central to energy metabolism in the cell. The third major axis is oxidative stress. The aim of this study was to investigate the role of ubiquitin-like SUMO genes in the pathogenesis of PD. MATERIALS and METHODS: In this study, 54 patients and 74 control subjects who were followed up from Istanbul Medical Faculty Movement Disorders Neurology Outpatient Clinic and diagnosed with PD were included. The diagnoses of the cases were made on the basis of clinical PD criteria established by the UK Parkinson’s Disease Association Brain Bank. DNA isolation and serum separation, library preparation, bioinformatics analysis, next generation sequencing method and sanger sequencing methods were used. RESULTS: As a result of genetic analysis, 49 single nucleotide polymorphisms were determined. As a result of the new generation sequencing, 4 SNPs were found in the SUMO4 gene (rs237025 and rs237024) and two in the SUMO3 gene (rs180313 and rs235293) (p <0.05). CONCLUSIONS: Present study, it is valuable because it is the first genetic analysis made in the SUMO gene in the Turkish population and the SNPs detected for the first time in the literature are shown. [ABSTRACT FROM AUTHOR]
- Published
- 2020