INVESTIGATION OF DIFFERENCES OF DNA COPY NUMBER IN FAMILIAL PARKINSON'S DİSEASE
Project no. 10 · Status: Kapanmış · 2015
Summary
Parkinson's disease (PH) is a progressive neurological disease involving loss of neurons in a part of the brain called the substantia nigra and is responsible for a high rate of mortality and morbidity. Copy number variants (CNVs) are known to cause Mendelian forms of Parkinson disease. In order to investigate the differences in copy number variations in familial Parkinson's disease, 10 families were included in the study. The difference in the whole genome copy number variations were analyzed between 10 patients with familial Parkinson's disease and their matched healthy siblings. DNA isolation from peripheral blood was performed with Genta PureGene Kit. The amount and purity of DNA were evaluated spectrophotometrically with NanoDrop 1000. Whole genome copy number variations were determined by CytoScan HD Array Kit and the results were analyzed by Partek Genomics Suite and Partek Pathway Software. The data obtained from the study revealed that there are aberrations in the DNA regions encoding proteins associated with the innate immune system, particularly the functions of naturel killer cells. Moreover, the results of molecular function gene set enrichment analysis underlined the MHC class I and II receptor activity in patients with PH. The results of our study revealed a CNV-based association between the innate immune system and familial Parkinson's disease. Further studies investigating the effects of dedected CNVs on gene expression and therefore on the immune response in patients may be useful in explaining the pathogenesis of Parkinson's disease. Key words: Familial Parkinson's disease, Copy number Variation Analysis, Immune system.