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TMEM230 in Parkinson's disease in a southern Spanish population.

ABSTRACT: 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.

SUBMITTER: Tejera-Parrado C

PROVIDER: S-EPMC5957438 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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TMEM230 in Parkinson's disease in a southern Spanish population.

Tejera-Parrado Cristina C Jesús Silvia S López-Ruíz Adrián A Buiza-Rueda Dolores D Bonilla-Toribio Marta M Bernal-Bernal Inmaculada I Periñán María Teresa MT Vargas-González Laura L Gómez-Garre Pilar P Mir Pablo P

PloS one 20180517 5

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 analys ...[more]

PMID: 29771939

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