Análisis de mutaciones en los genes PINK1 Y PARKIN en pacientes colombianos con enfermedad de Parkinson

Analysis of mutations in the genes pink1 and parkin in Colombian patients with Parkinson's disease

La enfermedad de Parkinson es un desorden neurodegenerativo complejo, caracterizado por la pérdida progresiva de las neuronas dopaminérgicas de la sustancia nigra pars compacta. Fac-tores tanto ambientales como genéticos se ha determinado que contribuyen a su desarrollo. Mutaciones en los genes PINK1 y PARKIN han sido asociadas con la enfermedad de inicio temprano e historia familiar. El objetivo del presente estudio fue identificar mutaciones en los genes PINK1 (exones 4 y 6) y PARKIN (exones 2 y 7) en 22 pacientes colombianos con EP de inicio temprano y/o antecedentes familiares, mediante amplificación por PCR y secuen-ciamiento. Las secuencias se compararon con la secuencia consenso de referencia. Se detectó una mutación homocigota de cambio en el marco de lectura ( frameshift) c.155delA en el exón 2 del gen PARKIN en una paciente con inicio temprano de la enfermedad e historia familiar. Además se identificó la presencia de un polimorfismo en el intrón 2 del gen PARKIN en siete pacientes, uno de ellos en estado homocigoto. No se encontraron mutaciones en los exones 4 y 6 del gen PINK1. Se encontró una mutación homocigota c.155delA en el exón 2 de PARKIN de una paciente con la enfermedad de Parkinson de inicio temprano con historia familiar. No se encontraron cambios el gen PINK1.

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45. DOI: http://dx.doi.org/10.22490/24629448.993