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

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

Single base extension and Fourier-transform infra-red spectroscopy techniques; further approaches in discriminating hazelnut-adulterated olive oil

Confirmation of olive oil authenticity and particularly virgin olive oil has a great importance. Several advanced chemical and genetic analyses have been used to monitor especial components; however, each has its limitations especially when detecting hazelnut-adulterated olive oil. The objective of this research was to assess the presence of trace amount of hazelnut oil in olive oil [less than 10%] by Single Base Extension [SBE] and Fourier Transform InfraRed Spectroscopy [FTIR]. The study was based on the analysis of chloroplast DNA sequences using SBE to detect Single Nucleotide Polymorphisms [SNPs] in highly preserved DNA regions among olive and hazelnut species to differentiate pure and adulterated olive oil by means of two parallel tools; ABI PRISM sequencing and AcycloPrime Single Nucleotide Polymorphism Detection. Fourier -Transform InfraRed technique was used for FTIR spectrum comparisons of pure olive oil and hazelnut-adulterated one, as well. Total DNA was extracted successfully from pure and hazelnut-adulterated olive oil, and it provided properly acceptable amplification with the primers designed on chloroplast region of both species and their admixture oil in different ratios; 50: 50, 70: 30, and vice versa. However, for lesser than 10% hazelnut oil in olive oil only SBE analysis provided recognizable results. FTIR spectra of oil samples were assessed at frequency regions of 4000 - 700 cm [-1]. Eight wave numbers [3007, 1373, 1237, 1120, 1098, 1032, 965, and 722 cm [-1]] of eleven differentiating ones were selected as candidate wave-numbers to distinguish pure and adulterated olive oil. SBE technique proved to be an effective strategy to verify olive oil authenticity, especially from hazelnut-adulterated olive oil. However, FTIR technique provided trustable results only when higher than 10% hazelnut oil is present in olive oil.