Efremova O. The role of abnormal exchange of methionine in the formation clinical signs of Down's syndrome.

Dissertation is devoted to the justification of clinical and genetic features of Down's syndrome in association with polymorphic gene variants folate cycle - methylenetetrahydrofolate reductase (С677T MTHFR) and methionine synthase reductase (A66G MTRR).Shown a significant influence of polymorphic variants of genes folate cycle in formation the biochemical basis of Down's syndrome. Among the phenotypic characteristics revealed significant differences of skin changes and subcutaneous tissue, cranial and those of the musculoskeletal system and extremities in main group compared to control group. At this investigation the state of amino acid metabolism in children with Down's syndrome and control group on the background of polymorphic variants of folate cycle genes, revealed a statistically significant difference in the level of methionine and valine (p <0.05).Based on these results it is recommended pathogenetic approach to rehabilitation techniques based metabolic disorders.