Cíntia Barros Santos-Rebouças, Cláudia Bueno Abdalla, Paloma Águia Martins, Fábio José Rodrigues Baldi, Jussara Mendonça Santos, Luciana Branco Motta, Margarete Borges de Borges, Dorotéia Rossi Silva Souza, Marcela Augusta de Souza Pinhel, Jerson Laks, Márcia Mattos Gonçalves Pimentel, "LRRK2 p.G2019S Mutation Is Not Common among Alzheimer’s Disease Patients in Brazil", Disease Markers, vol. 27, Article ID 298182, 4 pages, 2009. https://doi.org/10.3233/DMA-2009-0641
LRRK2 p.G2019S Mutation Is Not Common among Alzheimer’s Disease Patients in Brazil
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have emerged as a potential common cause for both sporadic and familial Parkinson’s Disease (PD) in different populations. The pleomorphic features exhibited by LRRK2 mutation carriers and the central role of Lrrk2 protein in the proper functioning of central nervous system suggest that mutations in this protein might be involved in multiple cellular processes leading to other neurodegenerative disorders than PD. The location of LRRK2 gene on chromosome 12, close to a linkage peak for familial late-onset Alzheimer’s Disease (AD), highlights that LRRK2 mutations might be involved in AD pathogenesis. We screened the most common LRRK2 mutation (p.G2019S) in a series of 180 consecutive patients clinically diagnosed with Alzheimer Disease (AD). We identified the p.G2019S in one AD patient with no PD signs, indicating that this mutation is not a common etiological factor for AD in our population (0.5%), corroborating recent data found in Norwegian, North American, Chinese and Italian populations. Nevertheless, these observations together with new information about the Lrrk2 critical multifunctionality do not rule out the possible influence of other variants within LRRK2 in AD, so that other screenings focusing in the whole extension of the LRRK2 using larger sized confirmed AD sample are urgently needed.
Copyright © 2009 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.