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Review
. 2010 Jan;43(1):1-7.
doi: 10.1590/s0100-879x2009007500021. Epub 2009 Dec 4.

Genetics of homocysteine metabolism and associated disorders

S Brustolin  1 , R Giugliani, T M Félix
Affiliations
Review

Genetics of homocysteine metabolism and associated disorders

S Brustolin et al. Braz J Med Biol Res. 2010 Jan.

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.

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Figure 1
Figure 1
Homocysteine metabolism
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References

    1. Selhub J. Homocysteine metabolism. Annu Rev Nutr. 1999;19:217–246. - PubMed
    1. Mansoor MA, Bergmark C, Svardal AM, Lonning PE, Ueland PM. Redox status and protein binding of plasma homocysteine and other aminothiols in patients with early-onset peripheral vascular disease. Homocysteine and peripheral vascular disease. Arterioscler Thromb Vasc Biol. 1995;15(2):232–240. - PubMed
    1. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Mattews RG, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995;10(1):111–113. - PubMed
    1. Jacques PF, Bostom AG, Williams RR, Ellison RC, Eckfeldt JH, Rosenberg IH, et al. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation. 1996;93(1):7–9. - PubMed
    1. van der Put NM, Gabreels F, Stevens EM, Smeitink JA, Trijbels FJ, Eskes TK, et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet. 1998;62(5):1044–1051. - PMC - PubMed

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