engleski

Estimation of the gene polymorphisms role in the progression of multiple sclerosis using MSSS method

Background: The estimation of the MS progression is important for therapeutic and rehabilitation approach. Commonly used scale for disability evaluation EDSS is not reliable for asses/INS ; sment of progression so MSSS method was developed. Objective: To explore the association of polymorphisms in arylsulfatase A (ASA) and glutathione S-transferase P1 (GSTP1) gene with disability and progression of MS. Subjects and methods: The frequency of N350S and 1524 + 95 A-G polymorphisms associated with ASA-pseudodeficiency (ASA-PD), and of A313G and C341T polymorphisms in GSTP1 gene, was determined in 56 and 58 MS patients, respectively, using PCR-RFLP method. EDSS was used to estimate disability level and MSSS to estimate disease progression. Correlation between genotypes and progression was analyzed by Kruskal–/INS ; Wallis test. Results: Presence of one or both ASA-PD polymorphisms was determined in 13 patients, from which 9 had mild, 1 moderate and 3 severe disability. No correlation was found between ASA-PD genotypes and MSSS (p > 0.05). However, 10 polymorphism carriers had MSSS > 5 which indicates faster disease progression. 32 and 12 patients were found to be carriers of A313 and C341 GSTP1 polymorphism respectively. No correlation was found between investigated GSTP1 genotypes and disability (p > 0.05), however patients-homozygous carriers of mutated A313G genotype had significantly higher mean MSSS than patients with normal or heterozygous genotype (p < 0.05). Conclusion: These results suggest that investigated polymorphisms may be associated with MS disability and progression. MSSS method was proved to be useful for estimation of MS progression as well as for identifying factors affecting disease progression such as gene polymorphisms.

gene polymorphisms; multiple sclerosis; MSSS method

nije evidentirano