Investigation of PSEN1, 2 Hot Spots in Iranian Early-Onset Alzheimerʹʹs Disease Patients

Background: Alzheimerʹs disease is a progressive, neurodegenerative disease with both genetic and non genetic causes. Familial Alzheimerʹs disease can be caused by mutations in the amyloid precursor protein, presenilin 1 and presenilin 2. Early-onset familial Alzheimerʹs disease (autosomal dominantly inherited) accounts for a small fraction (2-3%) of Alzheimerʹs disease cases. The aim of this study was investigation of exons 5, 7 in PSEN1 and exons 5, 6 in PSEN2 genes in Iranian patients with early onset Alzheimer disease. These exons were hot spots in different country. Materials and Methods: In this experimental study 24 patients with early onset Alzheimer disease and 48 healthy subjects as control group were included in this study. After DNAs extraction from whole blood, PCR-sequencing was used to amplify and analyze 4 exons. Results: Two known mutations (Glu 120 Lys in exon 3 of two patients and Arg 62 His in exon 5 of one patient) were found. Conclusion: According to the above findings, these exons were not hot spot in Iran.