The impact of DRD3, HS1-BP3, and LINGO1 gene mutations on the development and clinical heterogeneity of essential tremor in the Sakha Republic (Yakutia)

• Main Authors: Tatyana G. Govorova, Tatyana E. Popova, Alexey A. Tappakhov, Polina I. Golikova, Anastasya L. Danilova, Ulyana D. Antipina, Vera N. Samorseva, Alena Yu. Petrova, Michil E. Andreev, Nadezhda N. Lyasheeva
• Format: Article in Journal/Newspaper
• Language: English; Russian
• Published: Research Center of Neurology 2020
• Subjects: essential tremor; parkinson disease; genetics; lingo1; drd3; hs1-bp3; Neurosciences. Biological psychiatry. Neuropsychiatry; RC321-571; Sakha; Sakha Republic; Yakutia
• Online Access: https://doi.org/10.25692/ACEN.2020.1.6; https://doaj.org/article/682a9ca14df543e69b4511765beee543

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.