The impact of DRD3, HS1-BP3, and LINGO1 gene mutations on the development and clinical heterogeneity of essential tremor in the Sakha Republic (Yakutia) : Изучение вклада мутаций в генах DRD3, HS1-BP3 и LINGO1 в развитие и клиническую гетерогенность эссенциального тремора в Республике Саха (Якутия)
Introduction. The ETM1, ETM2 and ETM3 loci are linked with the development of essential tremor (ET). It has been established that a mutation in the LINGO1 gene is a significant risk factor for ET development.The aim of the study was to investigate the role of Ser9Gly polymorphism in the DRD3 gene, t...
Main Authors: | , , , , , , , , , |
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Format: | Text |
Language: | English |
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Анналы клинической и экспериментальной неврологии
2020
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Online Access: | https://dx.doi.org/10.25692/acen.2020.1.6 http://annaly-nevrologii.com/journal/index.php/pathID/article/view/637 |
Summary: | Introduction. The ETM1, ETM2 and ETM3 loci are linked with the development of essential tremor (ET). It has been established that a mutation in the LINGO1 gene is a significant risk factor for ET development.The aim of the study was to investigate the role of Ser9Gly polymorphism in the DRD3 gene, the Ala265Gly mutation in the HS1-BP3 gene and rs9652490 polymorphism in the LINGO1 gene in the development and clinical heterogeneity of ET in the Sakha Republic population (Yakutia).Materials and methods. Thirty-nine patients with a confirmed diagnosis of ET and 48 patients with Parkinson disease were examined. The control group consisted of 87 healthy individuals. Polymorphism carrier status and gene mutations were identified using real-time polymerase chain reaction.Results. The Ser/Gly genotype with Ser9Gly polymorphism in the DRD3 gene and the A/A genotype with rs9652490 polymorphism in the LINGO1 gene increases the risk of developing ET by 2.35 (p 0.02) and 2.42 (p 0.04) times, respectively. Moreover, the A/A genotype of the rs9652490 in the LINGO1 gene increases the risk for ET-plus syndrome by 2.17 times (p 0.02). Our data didnt confirm the role of the Ala265Gly mutation in the HS1-BP3 gene in development of the ET. : №1 (2020) |
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