Detección de mutaciones en el gen park2 en pacientes con enfermedad de Parkinson de inicio temprano en población colombiana

Abstract

Introduction: Parkinson`s disease (PD) was first described by James Parkinson in 1817, is the second most common neurodegenerative disorder after Alzheimer`s disease. Symptoms appear by a dopamine deficiency caused by degeneration and loss of dopaminergic neurons in several brain regions, particularly the substantia nigra. It is now known that there are genetic factors involved in the development of the disease, especially in early-onset PD. One gene, which according to several reports have been frequently implicated in the development of the disease is PRKN PARK2 or gene encoding the protein Parkin, a protein of 465 amino acids. It is known that the function of Parkin protein is ubiquitinated proteins ligase; mutations have been identified in Parkina lead to the loss of its function, reducing its ability to regulate the degradation of substrates. Methodology: A descriptive cross sectional study was conducted. For this EP 29 patients diagnosed with early-onset (before age 40) and 21 healthy individuals were used as control were evaluated. To a sample of peripheral blood from patients and controls were noted, and proceeded to perform DNA extraction. Subsequently the conditions for the PCR for the amplification of exons 3, 4 were standardized, and 5 in each individual. All amplified products were subjected to automated sequencing to assess possible mutations and polymorphisms in the study population.