Investigation of PSEN1, 2 hot spots in Iranian early-onset Alzheimer's disease patients

ABSTRACT

Alzheimer's disease is a progressive, neurodegenerative disease with both genetic and non genetic causes. Familial Alzheimer's disease can be caused by mutations in the amyloid precursor protein, presenilin 1 and presenilin 2. Early-onset familial Alzheimer's disease [autosomal dominantly inherited] accounts for a small fraction [2-3%] of Alzheimer's 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. 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. Two known mutations [Glu 120 Lys in exon 3 of two patients and Arg 62 His in exon 5 of one patient] were found. According to the above findings, these exons were not hot spot in Iran