%0 Journal Article
%T Cloning of Presenilin 2 cDNA and Construction of Vectors Carrying Effective Mutations in the Pathogenesis of Familial Alzheimer's Disease
%A G£¿zde £¿ztan
%J -
%D 2018
%X DOI: 10.26650/electrica.2018.12050 Alzheimer's disease (AD) is a neurodegenerative disease and is identified by the detection of amyloid-plaques and neuro£¿brillary tangles in the brain. Amyloid precursor protein gene, presenilin 1 (PSEN1) gene, and presenilin 2 (PSEN2) gene are responsible for this disease. PSEN2 and amyloid precursor protein (APP) gene mutations are a much rarer cause of familial AD patients. This study aims to clone the PSEN2 gene and create vectors with different mutations by directed mutagenesis. As a result of the experiments, the PSEN2 cDNA was cloned between the BamHI and KpnI cut-off points of the pBluescript II sk (+) vector. PSEN1 and PSEN2 homologs have a role in cell destiny decision and AD progress. We studied some of the PSEN2 mutations (Ala252Thr and Pro334Arg) and provided expression analysis in eukaryotic cell cultures. Amyloid ¦Â-protein (A¦Â), which is produced by endoproteolytic cleavage of the APP, is considered to play a role in AD. While nominal concentration of A¦Â40 is 10 times of A¦Â42, the last peptide is firmly linked to AD pathogenesis. Amyloid ¦Â-protein is generated by the ¦Ã-secretase cleavage of APP onset and the progression of AD, and it is the primary ingredient of the senile plaques. The A¦Â42 dodecamer plays a central role in AD. In future studies, it will be determined if there is an increase in A¦Â42 protein levels, and the effect on this early onset AD can be identified
%K Alzheimer's disease
%K presenilin 2 gene
%K A¦Â
%K pathogenesis
%K XL- 1 Blue
%U http://dergipark.org.tr/electrica/issue/38808/412050