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Mutations in methylenetetrahydrofolate reductase and in cysthationine beta synthase: is there a link to homocysteine levels in peripheral arterial disease?

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Abstract

Peripheral arterial disease (PAD) is an atherosclerotic disturbance characterized by a progressive obstruction of lower limb arteries. Many risk factors associated with PAD development have being reported in the literature. The present study aimed to investigate whether mutations in the methylenetetrahydrofolate reductase (MTHFR) or in the cystathionine beta synthase (CBS) genes are associated with higher levels of homocysteine and the risk of PAD in patients from Brazil. This study analyzed 39 patients with PAD and 32 without PAD in whom risk factors and C677T mutations in the MTHFR gene and both 844ins68 and T833C mutations in the CBS gene were investigated. Although higher levels of homocysteine could be observed in patients with PAD compared to controls, no association between the increase of homocysteine and the frequency of C677T, 844ins68, and T833C mutations could be observed. The results suggest that these mutations do not appear to be related to either homocysteine levels or the development of the disease. However, hyperhomocysteinemia and smoking are important factors in PAD development.

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Authors and Affiliations

  1. Núcleo de Pós-Graduação e Pesquisa - Santa Casa, Belo Horizonte, MG, Brazil

    Maria E. R. C. Santos & Francisco das C. L. e Silva

  2. Department of Clinical and Toxicological Analysis, Federal University of Minas Gerais, Belo Horizonte, MG, Brazil

    Karina B. Gomes, Ana Paula M. Fernandes, Fernanda R. Freitas, Mayara C. Faria, Ana Paula L. Mota & Maria G. Carvalho

  3. COLTEC-Federal University of Minas Gerais, Av. Antônio Carlos, 6627, Belo Horizonte, MG, CEP 31270-901, Brazil

    Karina B. Gomes

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  1. Maria E. R. C. Santos
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  2. Francisco das C. L. e Silva
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  3. Karina B. Gomes
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  4. Ana Paula M. Fernandes
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Correspondence to Karina B. Gomes.

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Santos, M.E.R.C., das C. L. e Silva, F., Gomes, K.B. et al. Mutations in methylenetetrahydrofolate reductase and in cysthationine beta synthase: is there a link to homocysteine levels in peripheral arterial disease?. Mol Biol Rep 38, 3361–3366 (2011). https://doi.org/10.1007/s11033-010-0443-1

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  • DOI: https://doi.org/10.1007/s11033-010-0443-1

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