Mutation analysis of the PARKIN, PINK1, DJ1, and SNCA genes in Turkish early-onset Parkinson's patients and genotype-phenotype correlations
dc.contributor.author | Kenangil, Gülay | |
dc.contributor.author | Kaleağası, Hakan | |
dc.contributor.author | Doğu, Okan | |
dc.contributor.author | Saka, Esen | |
dc.contributor.author | Elibol, Bülent | |
dc.contributor.buuauthor | Erer, Sevda | |
dc.contributor.buuauthor | Egeli, Ünal | |
dc.contributor.buuauthor | Zarifoğlu, Mehmet | |
dc.contributor.buuauthor | Tezcan, Gülçin | |
dc.contributor.buuauthor | Çeçener, Gülşah | |
dc.contributor.buuauthor | Tunca, Berrin | |
dc.contributor.buuauthor | Ak, Seçil | |
dc.contributor.buuauthor | Demirdoğen, Elif | |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı. | tr_TR |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji Anabilim Dalı. | tr_TR |
dc.contributor.orcid | 0000-0002-3820-424X | tr_TR |
dc.contributor.orcid | 0000-0002-1619-6680 | tr_TR |
dc.contributor.orcid | 0000-0001-7904-883X | tr_TR |
dc.contributor.orcid | 0000-0002-5956-8755 | tr_TR |
dc.contributor.researcherid | AAH-3843-2020 | tr_TR |
dc.contributor.researcherid | AAP-9988-2020 | tr_TR |
dc.contributor.researcherid | ABI-6078-2020 | tr_TR |
dc.contributor.researcherid | F-8554-2017 | tr_TR |
dc.contributor.researcherid | AAH-1420-2021 | tr_TR |
dc.contributor.scopusid | 25635370800 | tr_TR |
dc.contributor.scopusid | 55665145000 | tr_TR |
dc.contributor.scopusid | 6603411305 | tr_TR |
dc.contributor.scopusid | 25650627600 | tr_TR |
dc.contributor.scopusid | 6508156530 | tr_TR |
dc.contributor.scopusid | 6602965754 | tr_TR |
dc.contributor.scopusid | 55253485700 | tr_TR |
dc.contributor.scopusid | 25644460900 | tr_TR |
dc.date.accessioned | 2022-11-23T13:07:38Z | |
dc.date.available | 2022-11-23T13:07:38Z | |
dc.date.issued | 2016-09 | |
dc.description.abstract | Objective: Variations in PARK genes (PRKN, PINK1, DJ-1, and SNCA) cause early-onset Parkinson's disease (EOPD) in different populations. In the current study, we aimed to evaluate the frequencies of variations in PARK genes and the effects of these variations on the phenotypes of Turkish EOPD patients. Methods: All coding regions and exon-intron boundaries of the PRKN, PINK1, DJ-1, and SNCA genes were screened by heteroduplex analysis followed by direct sequencing of the detected variants in 50 Turkish EOPD patients. These variants were evaluated using SIFT, PolyPhen, HSF, and LOVD web-based programs. Results: The frequency of EOPD-associated variations in the PRKN gene was 34%. Among these variations, p.A82E in exon 3 and p.Q409X in exon 11 was determined to be pathogenic. We also defined previously unknown cryptic variations, including c.872-35 G > A and c.872-28T > Gin exon 8 of PRKN and c.252 + 30 T > G and c.322 + 4 A > G in exons 4 and 5 of DJ1, respectively, that were associated with EOPD. Although no significant association was observed between the PARK gene mutations and clinical features (P > 0.05), the alterations were related to the clinical symptoms in each patient. Conclusion: An increasing number of studies report that PRKN, PINK), DJ1 and SNCA mutations are associated with early-onset Parkinson's disease; however, a limited number of studies have been conducted in Turkey. Additionally, our study is the first to evaluate the frequency of SNCA mutations in a Turkish population. The aim of this study was determine the frequency distributions of the PRKN, PINK1, DJ1, and SNCA gene mutations and to analyze the relationships between these genetic variations and the clinical phenotype of EOPD in Turkish patients. | en_US |
dc.identifier.citation | Erer, S. vd. (2016). "Mutation analysis of the PARKIN, PINK1, DJ1, and SNCA genes in Turkish early-onset Parkinson's patients and genotype-phenotype correlations". Clinical Neurology and Neurosurgery, 148, 147-153. | en_US |
dc.identifier.endpage | 153 | tr_TR |
dc.identifier.issn | 0303-8467 | |
dc.identifier.issn | 1872-6968 | |
dc.identifier.pubmed | 27455133 | tr_TR |
dc.identifier.scopus | 2-s2.0-84978792807 | tr_TR |
dc.identifier.startpage | 147 | tr_TR |
dc.identifier.uri | https://doi.org/10.1016/j.clineuro.2016.07.005 | |
dc.identifier.uri | https://www.sciencedirect.com/science/article/pii/S030384671630244X | |
dc.identifier.uri | http://hdl.handle.net/11452/29546 | |
dc.identifier.volume | 148 | tr_TR |
dc.identifier.wos | 000381844000027 | tr_TR |
dc.indexed.pubmed | PubMed | en_US |
dc.indexed.scopus | Scopus | en_US |
dc.indexed.wos | SCIE | en_US |
dc.language.iso | en | en_US |
dc.publisher | Elsevier | en_US |
dc.relation.bap | UAP(T)-2013/43 | tr_TR |
dc.relation.collaboration | Yurt içi | tr_TR |
dc.relation.collaboration | Sanayi | tr_TR |
dc.relation.journal | Clinical Neurology and Neurosurgery | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | tr_TR |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Neurosciences & neurology | en_US |
dc.subject | Surgery | en_US |
dc.subject | Parkinsonism | en_US |
dc.subject | PARK loci | en_US |
dc.subject | PRKN | en_US |
dc.subject | PINK1 | en_US |
dc.subject | DJ1 | en_US |
dc.subject | SNCA | en_US |
dc.subject | Disease | en_US |
dc.subject | DJ-1 | en_US |
dc.subject | Association | en_US |
dc.subject | Population | en_US |
dc.subject | Europe | en_US |
dc.subject | Cohort | en_US |
dc.subject.emtree | Alpha synuclein | en_US |
dc.subject.emtree | PARK7 protein, human | en_US |
dc.subject.emtree | Parkin | en_US |
dc.subject.emtree | Protein deglycase DJ-1 | en_US |
dc.subject.emtree | Protein kinase | en_US |
dc.subject.emtree | PTEN-induced putative kinase | en_US |
dc.subject.emtree | SNCA protein, human | en_US |
dc.subject.emtree | Ubiquitin protein ligase | en_US |
dc.subject.emtree | Adult | en_US |
dc.subject.emtree | Age | en_US |
dc.subject.emtree | Alcohol consumption | en_US |
dc.subject.emtree | Article | en_US |
dc.subject.emtree | Bradykinesia | en_US |
dc.subject.emtree | Clinical article | en_US |
dc.subject.emtree | Clinical feature | en_US |
dc.subject.emtree | Disease duration | en_US |
dc.subject.emtree | DJ1 gene | en_US |
dc.subject.emtree | DNA polymorphism | en_US |
dc.subject.emtree | Dystonia | en_US |
dc.subject.emtree | Early onset Parkinsons disease | en_US |
dc.subject.emtree | Exon | en_US |
dc.subject.emtree | Family history | en_US |
dc.subject.emtree | Female | en_US |
dc.subject.emtree | Gait disorder | en_US |
dc.subject.emtree | Gender | en_US |
dc.subject.emtree | Gene | en_US |
dc.subject.emtree | Gene frequency | en_US |
dc.subject.emtree | Gene mutation | en_US |
dc.subject.emtree | Genetic variation | en_US |
dc.subject.emtree | Genotype phenotype correlation | en_US |
dc.subject.emtree | Head injury | en_US |
dc.subject.emtree | Heredity | en_US |
dc.subject.emtree | Heteroduplex analysis | en_US |
dc.subject.emtree | Human | en_US |
dc.subject.emtree | Intron | en_US |
dc.subject.emtree | Male | en_US |
dc.subject.emtree | Mutational analysis | en_US |
dc.subject.emtree | PARKIN gene | en_US |
dc.subject.emtree | Parkinson disease | en_US |
dc.subject.emtree | Phenotype | en_US |
dc.subject.emtree | PINK1 gene | en_US |
dc.subject.emtree | Rigidity | en_US |
dc.subject.emtree | Rural area | en_US |
dc.subject.emtree | Sequence analysis | en_US |
dc.subject.emtree | Sleep disorder | en_US |
dc.subject.emtree | Smoking | en_US |
dc.subject.emtree | SNCA gene | en_US |
dc.subject.emtree | Tremor | en_US |
dc.subject.emtree | Unified Parkinson disease rating scale | en_US |
dc.subject.emtree | Urban area | en_US |
dc.subject.emtree | Genetics | en_US |
dc.subject.emtree | Genotype | en_US |
dc.subject.emtree | Middle aged | en_US |
dc.subject.emtree | Onset age | en_US |
dc.subject.emtree | Parkinson disease | en_US |
dc.subject.emtree | Pathophysiology | en_US |
dc.subject.emtree | Turkey | en_US |
dc.subject.mesh | Adult | en_US |
dc.subject.mesh | Age of onset | en_US |
dc.subject.mesh | Alpha-synuclein | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Genotype | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Middle aged | en_US |
dc.subject.mesh | Parkinson disease | en_US |
dc.subject.mesh | Phenotype | en_US |
dc.subject.mesh | Protein deglycase DJ-1 | en_US |
dc.subject.mesh | Protein kinases | en_US |
dc.subject.mesh | Turkey | en_US |
dc.subject.mesh | Ubiquitin-protein ligases | en_US |
dc.subject.scopus | PTEN-induced Putative Kinase; Parkin Protein; Protein Deglycase DJ-1 | en_US |
dc.subject.wos | Clinical neurology | en_US |
dc.subject.wos | Surgery | en_US |
dc.title | Mutation analysis of the PARKIN, PINK1, DJ1, and SNCA genes in Turkish early-onset Parkinson's patients and genotype-phenotype correlations | en_US |
dc.type | Article | |
dc.wos.quartile | Q4 (Clinical neurology) | en_US |
dc.wos.quartile | Q3 (Surgery) | en_US |
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