Open AccessTMEM230 in Parkinson’s disease in a southern Spanish population
Author(s) -
Cristina TejeraParrado,
Silvia Jesús,
Adrián López-Ruíz,
Dolores BuizaRueda,
Marta BonillaToribio,
Inmaculada BernalBernal,
María Teresa Periñán,
Laura VargasGonzález,
Pilar GómezGarre,
Pablo Mir
Publication year - 2018
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0197271
Subject(s) - parkinson's disease , population , disease , medicine , biology , environmental health , pathology
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.