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Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor |
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| Authors: | Elena Garc??a-Mart??n Carmen Mart??nez Hortensia Alonso-Navarro Juli??n Benito-Le??n Oswaldo Lorenzo-Betancor Pau Pastor Inmaculada Puertas Lluisa Rubio Tom??s L??pez-Alburquerque Jos?? A G Ag??ndez F??lix Javier Jim??nez-Jim??nez |
| Institution: | 1. Department of Biochemistry and Molecular Biology, University of Extremadura, Badajoz, Spain 2. Department of Pharmacology and Psychiatry, University of Extremadura, Badajoz, Spain 3. Department of Medicine-Neurology, Hospital ??Pr??ncipe de Asturias??, Universidad de Alcal??, Alcal?? de Henares (Madrid), Spain 4. Section of Neurology, Hospital del Sureste, Arganda del Rey (Madrid), Spain 5. Servicio de Neurolog??a, Hospital Doce de Octubre, Madrid, Spain 6. CIBERNED, Centro de Investigaci??n Biom??dica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Madrid, Spain 7. Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain 8. Department of Neurology, Cl??nica Universidad de Navarra, University of Navarra School of Medicine, Pamplona, Spain 9. Service of Neurology, Hospital Universitario de Salamanca, Salamanca, Spain 10. C/Marroquina 14, 3oB, 28030, Madrid, Spain |
| Abstract: | Some clinical and experimental data suggest a possible role of gamma-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET), such as the improvement of ET with some GABAergic drugs and the development of an experimental model of ET in GABA A receptor alpha-1 knockout mice (postural and kinetic tremor and motor incoordination similar to human ET). To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping. The frequencies of the GABBR1 genotypes and allelic variants of the studied polymorphisms did not differ significantly between patients with ET and controls, and were unrelated with the age at onset of tremor, gender, localization of tremor, and response of tremor to ethanol. These data suggest that the single nucleotide polymorphisms studied in the GABBR genes are not related to the risk for ET. |
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