Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry /692/617/375/1718 /631/208/1516 article

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-MunozSarah Waldherr, Dora Yearout, Cyrus P. Zabetian, Ignacio F. Mata

Resultado de la investigación: Contribución a una revistaArtículorevisión exhaustiva

16 Citas (Scopus)

Resumen

Genetic risk: Uncovering ethnic-specific mutations: A new study reveals the frequency of Leucine Repeat Rich Kinase 2 (LRRK2) mutations associated with Parkinson's disease (PD) in Latin Americans. Ignacio F. Mata at the University of Washington and the VA Puget Sound Health Care System, Seattle, USA, and colleagues from six South American countries have screened the largest cohort of Latino PD patients ever assembled (1739) and 1104 healthy controls for LRRK2 mutations that are known to cause PD in European-derived populations. They found that the p.G2019S missense mutation was the most common, although its frequency varied greatly between countries and was directly correlated with European ancestry. In contrast, the p.R1441G mutation which is common in Spain is rare in Latin America. Further analyses of this cohort will help to further characterize the genetic profile of PD patients in Latin America and contribute to the development of personalized medicines.

Idioma originalInglés
Número de artículo19
Publicaciónnpj Parkinson's Disease
Volumen3
N.º1
DOI
EstadoPublicada - 1 dic. 2017

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© 2017 The Author(s).

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