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Genetics of homocysteine metabolism and associated disorders

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Genetics of homocysteine metabolism and associated disorders

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Título Genetics of homocysteine metabolism and associated disorders
Autor Pitt, Silvia Brustolin
Giugliani, Roberto
Felix, Temis Maria
Abstract Homocysteine is a sulfur-containing amino acid derived from the metabolism of methionine, an essential amino acid, and is metabolized by one of two pathways: remethylation or transsulfuration. Abnormalities of these pathways lead to hyperhomocysteinemia. Hyperhomocysteinemia is observed in approximately 5% of the general population and is associated with an increased risk for many disorders, including vascular and neurodegenerative diseases, autoimmune disorders, birth defects, diabetes, renal disease, osteoporosis, neuropsychiatric disorders, and cancer. We review here the correlation between homocysteine metabolism and the disorders described above with genetic variants on genes coding for enzymes of homocysteine metabolism relevant to clinical practice, especially common variants of the MTHFR gene, 677C>T and 1298A>C. We also discuss the management of hyperhomocysteinemia with folic acid supplementation and fortification of folic acid and the impact of a decrease in the prevalence of congenital anomalies and a decline in the incidence of stroke mortality.
Contido em Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas. Ribeirao Preto. Vol. 43, n. 1 (jan. 2010), p. 1-7
Assunto Hiper-homocisteinemia
Homocisteína
Polimorfismo de um único nucleotídeo
Predisposição genética para doença
[en] Folate metabolism
[en] Homocysteine
[en] Hyperhomocysteinemia
[en] Single nucleotide polymorphism
[en] Susceptibility genes
Origem Nacional
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/24012
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