RT Journal Article
T1 TMEM230 in Parkinson's disease in a southern Spanish population.
A1 Tejera-Parrado, Cristina
A1 Jesús, Silvia
A1 López-Ruíz, Adrián
A1 Buiza-Rueda, Dolores
A1 Bonilla-Toribio, Marta
A1 Bernal-Bernal, Inmaculada
A1 Periñán, María Teresa
A1 Vargas-González, Laura
A1 Gómez-Garre, Pilar
A1 Mir, Pablo
AB TMEM230 has been associated with autosomal dominant Parkinson's disease (PD). Subsequent studies have remained negative, and none of previous described mutation has been reported anymore. We investigated the implication of this gene in the PD in a population of 703 PD patients and 695 unrelated healthy controls from southern Spain. Thirteen variants were found, twelve of them observed only in controls or in patients and controls, and one (c.190A>G) observed only in one patient. Subsequent analysis of this variant indicates that probably it is not pathogenic. In addition, we found a variation in the 3'-UTR (rs183551373) and related with the miRNA hsa-miR-4299 but it was observed only in healthy controls. Our results suggest that variants in TMEM230 gene are not associated with the development of PD.
YR 2018
FD 2018-05-17
LK http://hdl.handle.net/10668/12478
UL http://hdl.handle.net/10668/12478
LA en
DS RISalud
RD Apr 6, 2025