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)

• Main Authors: Govorova, T.G., Popova, T.E., Tappakhov, A.A., Golikova, P.I., Danilova, A.L., Antipina, U.D., Samorseva, V.N., Petrova, A.Y., Andreev, M.E., Lyasheeva, N.N.
• Format: Text
• Language: English
• Published: Анналы клинической и экспериментальной неврологии 2020
• Subjects: essential tremor; Parkinson disease; genetics; LINGO1; DRD3; HS1-BP3; Sakha; Sakha Republic; Yakutia; Саха; Якути*; Якутия
• Online Access: https://dx.doi.org/10.25692/acen.2020.1.6; http://annaly-nevrologii.com/journal/index.php/pathID/article/view/637

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)