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

Carolina Andrea Infante Molina; Laura Marlen Mora Forero; Jenny C. Ortega Rojas; Carlos E. Arboleda Bustos; William Fernández; Humberto Arboleda; Gonzalo Arboleda

doi:10.22490/24629448.993

Vol. 12 No. 21 (2014)

Published 2014-06-15

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Research Article (before OJS)

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

DOI: https://doi.org/10.22490/24629448.993

Carolina Andrea Infante Molina Grupo de Neurociencias, Facultad de Medicina e Instituto de Genética, Universidad Nacional de Colombia, Universidad Colegio Mayor de Cundinamarca. Bogotá, Colombia

Laura Marlen Mora Forero Grupo de Neurociencias, Facultad de Medicina e Instituto de Genética, Universidad Nacional de Colombia, Universidad Colegio Mayor de Cundinamarca. Bogotá, Colombia

Jenny C. Ortega Rojas Grupo de Neurociencias, Facultad de Medicina e Instituto de Genética, Universidad Nacional de Colombia

Carlos E. Arboleda Bustos Grupo de Neurociencias, Facultad de Medicina e Instituto de Genética, Universidad Nacional de Colombia

William Fernández Grupo de Neurociencias, Facultad de Medicina e Instituto de Genética, Universidad Nacional de Colombia

Humberto Arboleda Grupo de Neurociencias, Facultad de Medicina e Instituto de Genética, Universidad Nacional de Colombia

Gonzalo Arboleda Grupo de Neurociencias, Facultad de Medicina e Instituto de Genética, Universidad Nacional de Colombia

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Abstract
References

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.

keywords: direct DNA sequencing, mutations, Parkinson's disease, PCR.

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How to Cite

Infante Molina, C. A., Mora Forero, L. M., Ortega Rojas, J. C., Arboleda Bustos, C. E., Fernández, W., Arboleda, H., & Arboleda, G. (2014). Analysis of mutations in the genes pink1 and parkin in Colombian patients with Parkinson’s disease. NOVA Biomedical Sciences Journal, 12(21), 15-21. https://doi.org/10.22490/24629448.993

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

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