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

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

Published 2014-07-01

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Vol. 12 No. 21 (2014)
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Analysis of mutations in the genes pink1 and parkin in Colombian patients with Parkinson’s disease. (2014). NOVA, 12(21). https://doi.org/10.22490/24629448.993
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Carolina Andrea Infante Molina
    Laura Marlen Mora Forero
      Jenny C. Ortega Rojas
        Carlos E. Arboleda-Bustos
          William Fernández
            Humberto Arboleda
              Gonzalo Arboleda
                Show authors biography
                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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                45. DOI: http://dx.doi.org/10.22490/24629448.993
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