Introduction:

Parkinson’s disease is characterized by the degeneration and loss of dopaminergic neurons in the brain. There are genetic factors involved in its development in its early onset form, such as the PARK2 gene encoding the parkin, an E3 ubiquitin ligase, which in the case of mutations loses its ability to regulate protein degradation causing stress and cell death.

Objective:

To determine the presence of molecular changes in PARK2 exons 3, 4 and 5 in a group of 29 patients and 21 colombian controls with early onset Parkinson’s disease or a family history of Parkinson’s disease and the possible correlation with clinical manifestations from the patients.

Materials and methods:

Observational descriptive study (between june of 2013 and november of 2014) where DNA extraction of whole blood was performed and the PCR technique was used for each of the exons. Finally, we proceeded to the automatic sequencing, analysis of the sequences with the Sequencher software and comparison with information of databases.

Results:

A homozygous variant (Ala46Thr) in exon 4 was identified in one patient not previously reported, possibly nonpathogenic and the Ser167Asn variant in heterozygous state in the same exon in another patient, considered pathogenic and previously reported in populations Asian and European. No variants were identified in the controls.

Conclusions:

changes not previously described in the colombian population, -Ala46Thr and Ser167Asn-, were identified in the group of patients and not in the controls. MÉD.UIS. 2017;30(3):31-8.

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