الفهرس | Only 14 pages are availabe for public view |
Abstract Multiple sclerosis (MS) is a multifactorial polygenic disease; results from autoimmune and neurodegenerative processes which lead to multifocal lesions of the central nervous system. Axonal degeneration was found to be prominent in the inflammation period of MS and contribute to the progression of disability. SNARE complex plays a vital role in the release of neurotransmitter by synaptic vesicle fusion. Stx-1A protein, a major component of the SNARE complex, has biased expression in brain tissue. In our study we aimed to evaluate the association of the Stx-1A gene polymorphism (rs1569061) in the Egyptian population with MS. Our study was conducted on 65 adult Egyptian patients diagnosed with MS. It was further divided into three groups: (group I: included 45 patients with RRMS, group II: included 12 patients with PPMS and group III: included 8 patients with SPMS). Diagnosis of MS was conducted by experienced neurologists - in the MS unit, Ain Shams University Hospitals-according to revised McDonald criteria. A control group of 35 age- and sex-matched healthy subjects was included in the study. All Patients underwent full history taking including the major disease’s criteria i.e., age of onset of MS, disease duration, disease course and degree of disability according to EDSS and family history of neurological diseases. Determination of Stx-1A gene Polymorphism (rs1569061) genotyping by TaqMan assay based quantitative real time (qPCR) and verified by sanger sequencer. The result of our study showed non-significant differences for the genotype and allele frequencies of (rs1569061) between case and control groups. No statistically significant difference was detected when comparing the genotype frequency and the allele frequency to different disease parameters. Predicting no association between the studied polymorphism and MS in the Egyptian population. Discrepancy of the MAF of Stx-1A gene (rs1569061) between different populations was noted. |