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

• Infante Molina, Carolina Andrea ^[1] ; Mora Forero, Laura Marlen ^[1] ; Ortega Rojas, Jenny C. ^[2] ; Arboleda Bustos, Carlos E. ^[2] ; Fernández, William ^[2] ; Arboleda, Humberto ^[2] ; Arboleda, Gonzalo ^[2]
  1. [1] Universidad Colegio Mayor de Cundinamarca

     Universidad Colegio Mayor de Cundinamarca

     Colombia

     
  2. [2] Universidad Nacional de Colombia

     Universidad Nacional de Colombia

     Colombia

     
• Localización: NOVA, ISSN-e 2462-9448, ISSN 1794-2470, Vol. 12, Nº. 21, 2014, págs. 15-21
• Idioma: español
• DOI: 10.22490/24629448.993
• Títulos paralelos:
  • Analysis of mutations in the genes pink1 and parkin in Colombian patients with Parkinson's disease.
• Enlaces
  • Texto completo
• Resumen
  • español

    La enfermedad de Parkinson es un desorden neurodegenerativo complejo, caracterizado por la pérdida progresiva de las neuronas dopaminérgicas de la sustancia nigra pars compacta. Factores 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 enfermedad de Parkinson de inicio temprano y/o antecedentes familiares, mediante amplificación por PCR y secuenciamiento. 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 en el gen PINK1.

  • English

    Parkinson's disease is a complex neurodegenerative disorder, characterized by the progressive loss of dopaminergic neurons of the substance nigra pars compacta. It has been determined that factors both environmental and genetic contribute to its development. Mutations in the genes PINK1 and PARKIN have been associated with the early onset of disease and family history. The goal of this study was to identify mutations in the PINK1 genes (exons 4 and 6) and PARKIN (exons 2 and 7) in 22 Colombian patients with Parkinson's disease of early onset and/ or family history, by PCR amplification and sequencing. The sequences were compared with the reference consensus sequence. A homozygous change mutation was detected in the reading frame (frame shift) c.155dela in exon 2 of the PARKIN gene in a patient with early onset of the disease and family history. In addition, the presence of a polymorphism in intron 2 of the PARKIN gene was identified in seven patients, one of them in homozygous state. Mutations were not found in exons 4 and 6 of the gene PINK1. A homozygous mutation c.155dela in exon 2 of PARKIN was found in a female patient with Parkinson's disease early onset with family history. No changes to the gene PINK1 were found.

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