Monika Chorąży1, Natalia Wawrusiewicz-Kurylonek2, Joanna Gościk3, Renata Posmyk4, Agata Czarnowska5, Marta Więsik6, Katarzyna Kapica-Topczewska5, Adam Jacek Krętowski2, Jan Kochanowicz5, Alina Kułakowska5. 1. Department of Neurology, Medical University in Bialystok, Bialystok, Poland, Sklodowska-Curie 24a, 15-276 Bialystok, Poland. chorazym@op.pl. 2. Department of Endocrinology, Diabetology and Internal Medicine, Medical University of Bialystok Clinical Hospital, Marii Skłodowskiej-Curie 24a, 15-276 Bialystok, Poland. 3. Faculty of Computer Science Bialystok University of Technology, Bialystok, Poland. 4. Department of Perinatology, Medical University in Bialystok, Bialystok, Poland. 5. Department of Neurology, Medical University in Bialystok, Bialystok, Poland, Sklodowska-Curie 24a, 15-276 Bialystok, Poland. 6. Alab Diagnostic Laboratory Company, Warsaw, Poland.
Abstract
BACKGROUND AND OBJECTIVES: Multiple sclerosis (MS) is a chronic inflammatory, autoimmune disease with a still unknown aetiology. The main initial mechanism of demyelination and injury to the central nervous system (CNS) appears to be inflammation. Neurotoxicity induced by homocysteine (Hcy) may be a factor affecting this process. 5,10-methylenetetrahydrofolate reductase (MTHFR) is an essential enzyme involved in Hcy metabolism. It leads to Hcy remethylation to methionine. In the 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 using the TaqMan technique. RESULTS AND CONCLUSIONS: It was found that, regardless of the presence of a specific allele, the gender of MS patients affects age at the time of the clinical onset of the disease: in rs1801133 for the C allele and T, the average age was 35 years for women 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 years for women 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 metabolising gene enzyme and multiple sclerosis in a Polish population.
BACKGROUND AND OBJECTIVES:Multiple sclerosis (MS) is a chronic inflammatory, autoimmune disease with a still unknown aetiology. The main initial mechanism of demyelination and injury to the central nervous system (CNS) appears to be inflammation. Neurotoxicity induced by homocysteine (Hcy) may be a factor affecting this process. 5,10-methylenetetrahydrofolate reductase (MTHFR) is an essential enzyme involved in Hcy metabolism. It leads to Hcy remethylation to methionine. In the 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 MSpatients and 186 healthy controls using the TaqMan technique. RESULTS AND CONCLUSIONS: It was found that, regardless of the presence of a specific allele, the gender of MSpatients affects age at the time of the clinical onset of the disease: in rs1801133 for the C allele and T, the average age was 35 years for women 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 years for women 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 metabolising gene enzyme and multiple sclerosis in a Polish population.
Authors: Monika Chorąży; Natalia Wawrusiewicz-Kurylonek; Edyta Adamska-Patruno; Olga Zajkowska; Katarzyna Kapica-Topczewska; Renata Posmyk; Adam Jacek Krętowski; Jan Kochanowicz; Alina Kułakowska Journal: J Immunol Res Date: 2020-11-11 Impact factor: 4.818