Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans
Por:
Ortega-Cubero, S, Lorenzo-Betancor, O, Lorenzo, E, Alonso, E, Coria, F, Pastor, MA, Fernandez-Santiago, R, Marti, MJ, Ezquerra, M, Valldeoriola, F, Compta, Y, Tolosa, E, Agundez, JA, Jimenez-Jimenez, FJ, Gironell, A, Clarimon, J, de Castro, P, Garcia-Martin, E, Alonso-Navarro, H, Pastor, P
Publicada:
1 oct 2013
Resumen:
FUS/TLS (denoting fused in sarcoma/translocated in liposarcoma [MIM 137070]) codifies an RNA binding protein. Mutations in this gene cause amyotrophic lateral sclerosis (ALS; MIM 608030). Essential tremor (ET [MIM 190300]) is the most frequent movement disorder. Despite its strong familiar aggregation, recently a whole exome sequencing study has identified FUS mutations as a cause of familial ET. To determine whether mutations in FUS are also common in other populations, we sequenced FUS gene in 178 unrelated Spanish subjects with ET. We detected only an intronic single-pair nucleotide deletion (c.1293-37delC), which was predicted to affect mRNA splicing. However, leukocyte mRNA analysis showed no changes in FUS expression. In conclusion, coding or splicing FUS mutations are not a frequent cause of ET in the Spanish population. (c) 2013 Elsevier Inc. All rights reserved.
Filiaciones:
Ortega-Cubero, S:
Univ Navarra, Div Neurosci, Ctr Appl Med Res, Neurogenet Lab, Pamplona 31008, Spain
Univ Navarra, Sch Med, Clin Univ Navarra, Dept Neurol, Pamplona 31008, Spain
Lorenzo-Betancor, O:
Univ Navarra, Div Neurosci, Ctr Appl Med Res, Neurogenet Lab, Pamplona 31008, Spain
Lorenzo, E:
Univ Navarra, Div Neurosci, Ctr Appl Med Res, Neurogenet Lab, Pamplona 31008, Spain
Alonso, E:
Univ Navarra, Div Neurosci, Ctr Appl Med Res, Neurogenet Lab, Pamplona 31008, Spain
Coria, F:
Son Espases Univ Hosp, Neurol Serv, Mallorca, Spain
Pastor, MA:
Univ Navarra, Sch Med, Clin Univ Navarra, Dept Neurol, Pamplona 31008, Spain
Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
Fernandez-Santiago, R:
Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
Hosp Clin Barcelona, Parkinsons Dis & Movement Disorders Unit, Neurol Serv, Inst Clin Neurociencies, Barcelona, Spain
Marti, MJ:
Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
Hosp Clin Barcelona, Parkinsons Dis & Movement Disorders Unit, Neurol Serv, Inst Clin Neurociencies, Barcelona, Spain
Ezquerra, M:
Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
Hosp Clin Barcelona, Parkinsons Dis & Movement Disorders Unit, Neurol Serv, Inst Clin Neurociencies, Barcelona, Spain
Valldeoriola, F:
Hosp Clin Barcelona, Parkinsons Dis & Movement Disorders Unit, Neurol Serv, Inst Clin Neurociencies, Barcelona, Spain
Compta, Y:
Hosp Clin Barcelona, Parkinsons Dis & Movement Disorders Unit, Neurol Serv, Inst Clin Neurociencies, Barcelona, Spain
Tolosa, E:
Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
Hosp Clin Barcelona, Parkinsons Dis & Movement Disorders Unit, Neurol Serv, Inst Clin Neurociencies, Barcelona, Spain
Agundez, JA:
Univ Extremadura, Dept Pharmacol, Caceres, Spain
Jimenez-Jimenez, FJ:
Hosp Univ Sureste, Neurol Sect, Madrid, Spain
Gironell, A:
Autonomous Univ Barcelona, St Pau Hosp, Dept Neurol, Movement Disorders Unit, Catalonia, Spain
Clarimon, J:
Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
Univ Autonoma Barcelona, Hosp St Pau, Inst Invest Biomed St Pau, Dept Neurol, E-08193 Barcelona, Spain
de Castro, P:
Univ Navarra, Sch Med, Clin Univ Navarra, Dept Neurol, Pamplona 31008, Spain
Garcia-Martin, E:
Univ Extremadura, Dept Biochem & Mol Biol, Caceres, Spain
Alonso-Navarro, H:
Hosp Univ Sureste, Neurol Sect, Madrid, Spain
Pastor, P:
Univ Navarra, Div Neurosci, Ctr Appl Med Res, Neurogenet Lab, Pamplona 31008, Spain
Univ Navarra, Sch Med, Clin Univ Navarra, Dept Neurol, Pamplona 31008, Spain
Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
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