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Genetic analysis of LRRK2 functional domains in Brazilian patients with Parkinson’s disease

2010; Wiley; Volume: 17; Issue: 12 Linguagem: Inglês

10.1111/j.1468-1331.2010.03039.x

1468-1331

Cláudia Bueno Abdalla-Carvalho, Cíntia Barros Santos-Rebouças, Bonfim Guimarães, Mário Campos, João Santos Pereira, Ana Lúcia Zuma de Rosso, Denise Hack Nicaretta, M. Marinho e Silva, Jussara Mendonça dos Santos, Márcia Mattos Gonçalves Pimentel,

Plant Gene Expression Analysis

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.