LAUSR

BACKGROUND AND OBJECTIVES Multiple sclerosis (MS) is a chronic inflammatory, autoimmune disease with still unknown etiology. The main initial mechanism of demyelination and injury to the central nervous system (CNS) appears to be inflammation . The neurotoxicity induced by homocysteine (Hcy) may be a factor affecting this process. The 5,10 -methylenetetrahydrofolate reductase (MTHFR) is an essential enzyme involved in Hcy metabolism. It leads to Hcy remethylation to methionine. In present study we aimed to investigate a possible association between two variants of MTHFR gene in patients with MS in Poland and healthy individuals. METHODS In this study, we genotyped 174 relapsing-remitting MS patients and 186 healthy controls by TaqMan technique. RESULTS AND CONCLUSIONS It was found that, regardless of the presence of a specific allele, the gender of MS patients affects the age differences at the time of the clinical onset of the disease: in rs1801133 for the C allele and T, the average age was 35 for female and 29 for men (p = 0.0004; p = 0.034 respectively). Similarly for the second polymorphism rs1801131 for the A allele and C the average age was 35 for female and 29 for men (p = 0.001; p = 0.01 respectively). No significant allelic / genotypic frequency differences have been observed between the studied groups (c.677C > T, CT/TT p = 0.719, p = 0.262; c.1298A > C, AC/CC of p = 0.686; p = 0.66). We found no association between polymorphisms of a folate - homocysteine - methionine - SAM metabolizing gene enzyme and multiple sclerosis in polish population.