Grechanina Y. Studying influence of mtDNA polymorphism and polymorphic genes C677T MTHFR, A66G MTRR on clinical manifestation of mitochondrial dysfunction

The dissertation dedicated to the searches of clinics, risk factors influences on mitochondrial dysfunction development. Their connection has been studied with "point" mutations of mtDNA and re-metilation of methionine in Ukrainian population. The algorithm, clinical continuum and genetic navigator for diagnostic mitochondrial dysfunctions has been developed against the background of obtained data. Modern genetic studies on the molecular level approximately 2,5 000 and serious mathematical analysis have allowed dissertation defender to obtain scientifically confirmed conclusions and mechanisms of appears and development of mitochondrial dysfunctions. 652 patients with genetic pathology and 203 patients with mitochondrial dysfunctions were clinically examined. The conception about the influence of mtDNA polymorphisms need on expressed mitochondrial dysfunctions, which is origin pathological transformated of mtDNA polymorphisms against the background of changed status of methilation as the main genome modificator and triggers present