Investigation of APE1 ASP148GLU polymorphism in patients with parkinson's disease

Aim: Dysfunctional mitochondria and oxidative stress are major components of the pathogenesis of Parkinson's Disease. Preservation of genomic integrity against oxidative damage is very important for neuronal survival. Problems in the DNA repair mechanism have been associated with many diseases such as cancer, progeria and neurodegenerative diseases. AP Endonuclease 1, a multifunctional enzyme, plays a key role in BER, one of the DNA repair mechanisms. It is stated that mutations in the APE1 gene, which encodes AP Endonuclease I, play a role in various diseases. In this study, it was aimed to investigate the Asp148Glu polymorphism in the APE1 gene in patients with PD and healthy control groups. Material and Method: Peripheral blood samples were taken from the patients (n=155) and healthy control groups (n=73) and genomic DNA isolation was performed. Real-time polymerase chain reaction method was used to determine the genotypes of individuals for the APE1 Asp148Glu polymorphism. The obtained data were statistically compared between the groups. Results: According to the data obtained, it was found that the difference between the patient and control groups in terms of genotype and allele frequencies for the APE1 Asp148Glu polymorphism was not statistically significant. In addition, when some clinical findings of PD and APE1 Asp148Glu gene polymorphism results were evaluated together, it was understood that there was no statistically significant difference between genotypes. Conclusion: In this study, no difference was observed between the patient and control groups in terms of APE1 Asp148Glu polymorphism. However, larger study groups and studies including other DNA repair genes will be useful for understanding the genetic etiopathogenesis of PD.