Genetic analysis of LRRK2 functional domains in Brazilian patients with Parkinson's disease.
Eur J Neurol
; 17(12): 1479-81, 2010 Dec.
Article
em En
| MEDLINE
| ID: mdl-20443975
ABSTRACT
BACKGROUND AND PURPOSE:
Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been associated with Parkinson's disease (PD), and the majority of the pathogenic variants are located in the ROC and MAPKKK domains.METHODS:
Exons 29-31 and 38-44 (ROC and MAPKKK domains) were sequenced in 204 patients with PD, mostly Brazilian.RESULTS:
We identified four polymorphisms, a novel silent variant p.R1398R and four substitutions p.T1410M, p.G2019S, p.Y2189C and the novel variant p.C2139S.CONCLUSIONS:
The most prevalent mutation was the p.G2019S (2.4%). We consider that the p.T1410M and the p.Y2189C variants are probably polymorphisms and that the p.C2139S mutation is potentially pathogenic.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
/
Éxons
/
Proteínas Serina-Treonina Quinases
Limite:
Aged
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Eur J Neurol
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Brasil