Hyperhomocysteinemia and of Methylenetetrahydrofolate Reductase (C677T) Genetic Polymorphism in Patients with Deep Vein Thrombosis

Abstract

Aim:To determine the concentration of total plasma homocysteine (tHcy) as well as different genotypes of methylenetetrahydrofolate reductase MTHFR (C677T) in healthy subjects and patients with deep vein thrombosis (DVT).Material and methods:The investigation comprised a total of 160 subjects divided in two main groups: 80 healthy subjects (control group) and 80 patients with deep vein thrombosis. Concentration of tHcy was determined by spectrophotometric cyclic enzymatic method and mutation of MTHFR (C677T) gene was examined by polymerase chain reaction according to Schneider.Results:The results obtained for plasma tHcy in the control group were 11.62±3.43 μmol/L, while tHcy level was significantly higher in patients with deep vein thrombosis as compared to the control group, 15.19±3.63 μmol/L (р<0.001). The analysis of the results has shown that MTHFR (C677T) genetic polymorphism was responsible for mild to moderate hyperhomocysteinemia in the majority of subjects.Conclusion:The level of tHcy in the examined patients was significantly higher in comparison with the control group. Multiple regression analysis has shown that tHcy level in CT and TT genotypes of MTHFR (C677T) was statistically higher in comparison with CC genotype of MTHFR (C677T) in both, the control group and the DVT patients.

Cerebral venous thrombosis in inflammatory bowel disease

“…1) had the C677T MHTFR mutation. There are conflicting data in the literatures as to whether this mutation causes a clinically significant increased risk of thrombosis . The MHTFR gene mutation is associated with hyperhomocysteinemia and deficiency in vitamin B12 and folate .…”

Personalized Medicine Applied to Forensic Sciences: New Advances and Perspectives for a Tailored Forensic Approach

“…For example, the SNPs of MTHFR gene, rs1801133also known as MTHFR C677T or A222V -and rs1801131also known as MTHFR A1298C or E429A -have as a result a more thermolabile enzyme, determining an activity reduced by 50%, that results in clinical phenotype with mild hyperhomocysteinemia, especially in nutritional deficiency of folic acid, with increased risk of cerebrovascular (stroke) and cardiovascular (myocardial infarction) events and venous thrombosis. However, the genetic risk factor may be counterbalanced with opportune therapy and dietary regimen, modifying the levels of homocysteine that however cannot be assessed in post-mortem, so that cannot be considered a major (direct) risk factor [34,35].…”

Rivaroxabankezelés mellett kialakult bal pitvari fülcsethrombus sikeres kezelése direkt trombininhibitorral

“…Az emelkedett homociszteinszint miatt csökken a protein C-aktivitás. Ez utóbbi miatt az Va és VIIIa faktorok kevésbé gátlódnak, és a protrombin-trombin átala-kulás fokozódik, így a véralvadás egyensúlya prokoaguláns irányba tolódik el [1,2]. Feltételezésünk szerint egy olyan antikoaguláns, amely a fent említett lépés után gá-tolja az alvadási kaszkádot, hatékonyabb lehet MTHFRmutáció esetén.…”