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Genetics of hyperhomocysteinaemia in cardiovascular disease.
Ann Clin Biochem 2003; 40(Pt 1):46-59AC

Abstract

Homocysteine, a sulphur amino acid, is a branch-point intermediate of methionine metabolism. It can be degraded in the transsulphuration pathway to cystathionine, or remethylated to methionine via the remethylation pathway. In both pathways, major genetic defects that cause enzyme deficiencies are associated with very high plasma homocysteine concentrations and excretion of homocystine into the urine. Mildly elevated plasma homocysteine concentrations are thought to be an independent and graded risk factor for both arterial occlusive disease and venous thrombosis. Genetic defects in genes encoding enzymes involved in homocysteine metabolism, or depletion of important cofactors or (co)substrates for those enzymes, including folate, vitamin B(12) and vitamin B(6), may result in elevated plasma homocysteine concentrations. Plasma homocysteine concentrations are also influenced by dietary and lifestyle factors. In the last decade, several studies have been conducted to elucidate the genetic determinants of hyperhomocysteinaemia in patients with cardiovascular disease. We report on both environmental and genetic determinants of hyperhomocysteinaemia and give a detailed overview of all the genetic determinants that have been reported to date.

Authors+Show Affiliations

Laboratory of Paediatrics and Neurology, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

12542910

Citation

Lievers, Karin J A., et al. "Genetics of Hyperhomocysteinaemia in Cardiovascular Disease." Annals of Clinical Biochemistry, vol. 40, no. Pt 1, 2003, pp. 46-59.
Lievers KJ, Kluijtmans LA, Blom HJ. Genetics of hyperhomocysteinaemia in cardiovascular disease. Ann Clin Biochem. 2003;40(Pt 1):46-59.
Lievers, K. J., Kluijtmans, L. A., & Blom, H. J. (2003). Genetics of hyperhomocysteinaemia in cardiovascular disease. Annals of Clinical Biochemistry, 40(Pt 1), pp. 46-59.
Lievers KJ, Kluijtmans LA, Blom HJ. Genetics of Hyperhomocysteinaemia in Cardiovascular Disease. Ann Clin Biochem. 2003;40(Pt 1):46-59. PubMed PMID: 12542910.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetics of hyperhomocysteinaemia in cardiovascular disease. AU - Lievers,Karin J A, AU - Kluijtmans,Leo A J, AU - Blom,Henk J, PY - 2003/1/25/pubmed PY - 2003/6/26/medline PY - 2003/1/25/entrez SP - 46 EP - 59 JF - Annals of clinical biochemistry JO - Ann. Clin. Biochem. VL - 40 IS - Pt 1 N2 - Homocysteine, a sulphur amino acid, is a branch-point intermediate of methionine metabolism. It can be degraded in the transsulphuration pathway to cystathionine, or remethylated to methionine via the remethylation pathway. In both pathways, major genetic defects that cause enzyme deficiencies are associated with very high plasma homocysteine concentrations and excretion of homocystine into the urine. Mildly elevated plasma homocysteine concentrations are thought to be an independent and graded risk factor for both arterial occlusive disease and venous thrombosis. Genetic defects in genes encoding enzymes involved in homocysteine metabolism, or depletion of important cofactors or (co)substrates for those enzymes, including folate, vitamin B(12) and vitamin B(6), may result in elevated plasma homocysteine concentrations. Plasma homocysteine concentrations are also influenced by dietary and lifestyle factors. In the last decade, several studies have been conducted to elucidate the genetic determinants of hyperhomocysteinaemia in patients with cardiovascular disease. We report on both environmental and genetic determinants of hyperhomocysteinaemia and give a detailed overview of all the genetic determinants that have been reported to date. SN - 0004-5632 UR - https://www.unboundmedicine.com/medline/citation/12542910/Genetics_of_hyperhomocysteinaemia_in_cardiovascular_disease_ L2 - http://journals.sagepub.com/doi/full/10.1258/000456303321016169?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -