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.
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.
Authors: Min Liu; Samantha A Bender; Gregory D Cuny; Woody Sherman; Marcie Glicksman; Soumya S Ray Journal: Biochemistry Date: 2013-03-01 Impact factor: 3.162
Authors: Mario Cornejo-Olivas; Luis Torres; Mario R Velit-Salazar; Miguel Inca-Martinez; Pilar Mazzetti; Carlos Cosentino; Federico Micheli; Claudia Perandones; Elena Dieguez; Victor Raggio; Vitor Tumas; Vanderci Borges; Henrique B Ferraz; Carlos R M Rieder; Artur Shumacher-Schuh; Carlos Velez-Pardo; Marlene Jimenez-Del-Rio; Francisco Lopera; Jorge Chang-Castello; Brennie Andreé-Munoz; Sarah Waldherr; Dora Yearout; Cyrus P Zabetian; Ignacio F Mata Journal: NPJ Parkinsons Dis Date: 2017-06-02