METHYLENE TETRAREDUCTASE POLYMORPHISM AS A RISK FACTOR FOR RETINAL VESSEL OCCLUSION (A Literature Review)
Keywords:
gene polymorphism, retinal vascular occlusions, diagnosis, homocysteineAbstract
Relevance. Disorders of one-carbon metabolism, mediated by MTHFR activity and leading to hyperhomocysteinemia and epigenetic dysregulation, are an understudied but potentially key link in the pathogenesis of occlusive retinal vascular lesions, particularly in patients without traditional cardiovascular risk factors. Aim of the study. To investigate risk factors for retinal vascular occlusion. Results. In cases of confirmed hyperhomocysteinemia, the primary objective is to identify and address possible causes. These include deficiencies in folate, vitamins B12 and B6, chronic kidney disease, certain medications and dietary factors. Conclusions. Disturbances in one-carbon metabolism, mediated by MTHFR activity, lead to reduced production of S-adenosylmethionine and the development of global hypomethylation, which is accompanied by dysregulation of vascular endothelial gene expression (eNOS, VEGF, ICAM-1) and the development of endothelial dysfunction, which plays a central role in the pathogenesis of occlusive retinal vascular lesions.
References
Astakhov Yu.S., Tultsova S.N., Titarenko A.I. The role of endothelial dysfunction in the pathogenesis of vascular diseases of the eye // Regional Blood Circulation and Microcirculation. – Vol. 11, No. 4.–pp. 4–11.
Korokin, M.V., Pokrovsky, M.V., Kochkarov, V.I. et al. Investigation of the endothelial- and cardioprotective effects of enalapril, losartan and amlodipine in a model of hyperhomocysteine-induced endothelial dysfunction // Kuban Scientific Medical Bulletin. – No. 3. – pp. 76–81.
Koryakina L.B., Pivovarov Yu.I., Kurilskaya T.E. et al. Vascular endothelial dysfunction in arterial hypertension and ischaemic heart disease (a literature review) // Acta Biomedica Scientifica. – 2012. – No. 5. – pp. 164–168.
Shelkovnikova T.V., Vavin V.G., Takhchidi H.P. et al. Features of haemostasis in patients with retinal vein occlusion // Bulletin of Haematology. – 2013. – Vol. IX, No. 4. – pp. 30–33.
Salomon O., Moisseiev J., Rosenberg N., et al. Analysis of genetic polymorphisms related to thrombosis and other risk factors in patients with retinal vein occlusion // Blood Coagulation & Fibrinolysis. – 1998. – Vol. 9, No. 7. – pp. 617–622.
Romanitan M.O., Popa-Cherecheanu M., Vasile V.A., et al. Highlights on Genetic Polymorphism Associated with Thromboembolic Risk; Implications in Ophthalmic and Autoimmune Disorders—A Review // Diagnostics. – 2023. – Vol. 13, No. 7. – p. 1267.
