Title
LRRK2 mutations in patients with Parkinson's disease from Peru and Uruguay
Date Issued
01 June 2009
Access level
metadata only access
Resource Type
journal article
Author(s)
Mata I.
Raggio V.
Aljanati R.
Buzó R.
Yearout D.
Dieguez E.
Zabetian C.
Publisher(s)
Elsevier
Abstract
Variation in the leucine-rich repeat kinase 2 (LRRK2) gene represents the most common genetic determinant of Parkinson's disease (PD) identified to date. While the frequency and distribution of LRRK2 mutations have been well-studied in Europe and North America, few data are available from South America. To address this gap in knowledge, we screened two cohorts of patients with PD from Peru (n = 240) and Uruguay (n = 125) for the three most common LRRK2 mutations (R1441C, R1441G, G2019S). We identified at total of seven patients with mutations, one with R1441G, and six with G2019S. The carrier frequency was significantly greater in the Uruguayan cohort (4.8%) than in the Peruvian cohort (0.4%; p = 0.007). This likely resulted from a greater admixture proportion in the Peruvian sample. Haplotype analyses suggested that G2019S was probably brought to Peru and Uruguay by European settlers. In contrast, the origin of R1441G in our cohort was not clear, as the patient with this mutation had a background haplotype that was clearly distinct from that reported in carriers from Europe and North America. Our data add to a growing body of evidence indicating that LRRK2 mutations are widely distributed across South America but might differ by region in prevalence.
Start page
370
End page
373
Volume
15
Issue
5
Language
English
OCDE Knowledge area
Ciencias médicas, Ciencias de la salud
Subjects
Handle or URL
Scopus EID
2-s2.0-67349203890
PubMed ID
Source
Parkinsonism and Related Disorders
ISSN of the container
13538020
Sponsor(s)
We thank the individuals who participated in the study, and Giovanna Ramos, Amalia Avila and Luis Delgado for technical support and assistance with subject recruitment. This work was supported by grants from the Department of Veterans Affairs, Office of Research and Development Medical Research Service (Merit Review Award, C.P.Z.), the American Parkinson Disease Association (C.P.Z.), and the Parkinson's Disease Foundation (Postdoctoral Research Fellowship, I.FM.).
Sources of information:
Directorio de Producción Científica
Scopus