RESUMO
Under study were features of allele polymorphism of genes of methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), methionine synthase (MS A 2756G), methionine synthase reductase (MTRR A66G) and methylenetetrahydrofolate dehydrogenase (MTHFD G1958A) in patients with atherosclerosis of the lower extremity arteries (ALEA). Patients with hyperhomocysteinemia (HHcy) had statistically significant increase of allele MTHFR 677T and MTRR 66GG as compared both with the control group and with the group of patients without HHcy. It suggests that polymorphism of genes involved in homocystein and folate metabolism might affect the risk of HHcy in patients with ALEA.
Assuntos
Aterosclerose/genética , DNA/genética , Ácido Fólico/genética , Homocisteína/genética , Perna (Membro)/irrigação sanguínea , Polimorfismo Genético , Alelos , Aterosclerose/sangue , Aterosclerose/diagnóstico , Feminino , Ferredoxina-NADP Redutase/genética , Flavoproteínas , Ácido Fólico/análogos & derivados , Ácido Fólico/sangue , Seguimentos , Predisposição Genética para Doença , Genótipo , Homocisteína/sangue , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Prognóstico , Índice de Gravidade de DoençaRESUMO
The diagnostics of basal and post-load (latent) hyperhomocysteinemia (HHC) was made in 110 patients with atherosclerosis of lower extremity arteries. Basal HHC was found in 61% of the patients. Latent HHC was found when using a methionine load test in 20 (47%) out of 43 patients without basal HHC. Patients with latent HHC had more pronounced tension of OAS.
Assuntos
Antioxidantes/metabolismo , Aterosclerose/sangue , Catalase/sangue , Hiper-Homocisteinemia/sangue , Perna (Membro)/irrigação sanguínea , Malondialdeído/sangue , Estresse Oxidativo/fisiologia , Aterosclerose/complicações , Cromatografia Líquida de Alta Pressão , Feminino , Homocisteína/sangue , Humanos , Hiper-Homocisteinemia/complicações , Masculino , Metionina , Pessoa de Meia-Idade , PrognósticoRESUMO
AIM: To study the role of genetic determinants of hereditary thrombophilia in pathogenesis of various clinical manifestations of venous thrombosis in the citizens of the North-West Region of Russia. MATERIAL AND METHODS: Mutations of the genes of factor V (FV Leiden), prothrombin (G20210-A) and polymorphism C677-T in the gene of methylentetrahydrofolate reductase (MTHFR) were detected using polymerase chain reaction (PCR) with a following restriction analysis of PCR product in 183 patients with venous thrombosis (115 with isolated thrombosis of the deep veins and 68 with thromboembolism of the pulmonary artery). RESULTS: It was established that mutation FV Leiden is a significant risk factor of deep vein thrombosis in the legs and postthrombotic disease, but this mutation is weakly associated with pulmonary artery thromboembolism (PAT). An essential PAT risk factor is carriage of the variant prothrombin G20210A. CONCLUSION: Determination of prothrombotic genotypes is a key factor of treatment efficacy and prevention of life-threatening thromboembolic complications.