Evaluation of oxidative stress markers and cardiovascular risk factors in Fabry Disease patients

Evaluation of oxidative stress markers and cardiovascular risk factors in Fabry Disease patients

Autor Müller, Karen Barbosa Autor UNIFESP Google Scholar
Galdieri, Luciano C. Autor UNIFESP Google Scholar
Pereira, Vanessa Gonçalves Autor UNIFESP Google Scholar
Martins, Ana Maria Autor UNIFESP Google Scholar
D'Almeida, Vânia Autor UNIFESP Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Resumo Fabry Disease, an X-linked inborn error of metabolism, is characterized by progressive renal insufficiency, with cardio and cerebrovascular involvement. Homocysteine (Hcy) is considered a risk factor for vascular diseases, but the mechanisms by which it produces cardiovascular damage are still poorly understood. Regarding the vascular involvement in FD patients, the analysis of factors related to thromboembolic events could be useful to improving our understanding of the disease. The aim of this study was to evaluate plasma Hcy and other parameters involved in the methionine cycle, as well as oxidative stress markers. The sample consisted of a group of 10 male FD patients and a control group of 8 healthy individuals, paired by age. Venous blood was collected for Hcy determination, molecular analysis, identification of thiobarbituric acid reactive substances, total glutathione and antioxidant enzymes activity, as well as vitamins quantification. Comparative analysis of FD patients versus the control group indicated hyperhomocysteinemia in 8 of the 10 FD patients, as well as a significant increase in overall glutathione levels and catalase activity. It is inferred that FD patients, apart from activation of the antioxidant system, present increased levels of plasma Hcy, although this is probably unrelated to common alterations in the methionine cycle.
Assunto inborn errors of metabolism
Fabry Disease
oxidative stress
Idioma Inglês
Financiador Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Data 2012-01-01
Publicado em Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 35, n. 2, p. 418-423, 2012.
ISSN 1415-4757 (Sherpa/Romeo, fator de impacto)
Editor Sociedade Brasileira de Genética
Extensão 418-423
Fonte http://dx.doi.org/10.1590/S1415-47572012005000031
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:000305580300006
SciELO S1415-47572012000300006 (estatísticas na SciELO)
URI http://repositorio.unifesp.br/handle/11600/6879

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