UDC 616.832-004.2-07:577.164.11:577.161.3

Introduction. Multiple sclerosis (MS) is a chronic autoimmune disease of the central nervous system
characterized by demyelination and neurodegeneration. Emerging evidence suggests a potential role
of folate metabolism, vitamin D status, and MTHFR gene polymorphisms in MS pathogenesis and
progression. In populations without food fortification, such as Ukraine, these factors may be particularly
relevant, highlighting the need to study their interrelationships with clinical disease features.
Aim. To investigate the relationship between folate metabolism markers (homocysteine, folic acid, and
vitamin B12), vitamin D levels, MTHFR gene variants, and the clinical characteristics of disease progression
in patients with MS.
Materials and methods. This study assessed biochemical markers of folate metabolism (homocysteine,
folic acid, vitamin B₁₂), vitamin D levels, and the MTHFR rs1801133 genotype in 113 MS patients, with
in-depth biochemical analysis conducted in a randomly selected subgroup of 36 patients. Clinical and
demographic data were collected, and statistical analyses were performed to evaluate correlations
between biochemical, genetic, and clinical parameters.
Results. Patients demonstrated elevated median homocysteine levels and suboptimal concentrations of
folic acid, vitamin B₁₂, and vitamin D. Significant inverse correlations were observed between homocysteine
and folic acid levels, as well as between vitamin D levels and EDSS scores. Smokers had significantly lower
vitamin B₁₂ levels. Although the difference was not statistically significant, patients with the TT genotype
of MTHFR rs1801133 showed a trend toward lower folic acid levels. Homocysteine levels were highest in
patients with secondary progressive MS, indicating a possible link to disease progression.
Conclusions. Findings highlight the potential contribution of disrupted folate metabolism and vitamin D
deficiency to MS pathogenesis, particularly in populations lacking food fortification. These results
underscore the need for further research into vitamin-based interventions as possible strategies for
modifying disease course.
Keywords: folate metabolism, homocysteine, methylenetetrahydrofolate reductase, multiple
sclerosis, neurodegeneration, vitamin B₁₂, vitamin D