Mutaciones y EP en Uruguay primeros datos

Recientemente se han publicado los primeros estudios moleculares en pacientes uruguayos con EP. Los primeros resultados muestran que casi un 5% de los pacientes urguayos de EP tienen una de las dos mutaciones frecuentes en el gene LRRK2 (PARK8).


Parkinsonism Relat Disord. 2008 Nov 1.

LRRK2 mutations in patients with Parkinson's disease from Peru and Uruguay.

Mata IF, Cosentino C, Marca V, Torres L, Mazzetti P, Ortega O, Raggio V, Aljanati R, Buzó R, Yearout D, Dieguez E, Zabetian CP.

Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, WA, USA; Department of Neurology, University of Washington, Seattle, WA, USA.

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.