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Transcobalamin 2 variant associated with poststroke homocysteine modifies recurrent stroke risk.

17:04 EDT 22nd May 2013 | BioPortfolio

Summary of "Transcobalamin 2 variant associated with poststroke homocysteine modifies recurrent stroke risk."

The Vitamin Intervention for Stroke Prevention trial found an association between baseline poststroke homocysteine (Hcy) and recurrent stroke. We investigated genes for enzymes and cofactors in the Hcy metabolic pathway for association with Hcy and determined whether associated single nucleotide polymorphisms (SNPs) influenced recurrent stroke risk.

Affiliation

Center for Public Health Genomics, University of Virginia, PO Box 800717, Charlottesville, VA 22908 msale@virginia.edu.

Journal Details

This article was published in the following journal.

Name: Neurology
ISSN: 1526-632X
Pages: 1543-50

Links

Medical and Biotech [MESH] Definitions

Homocysteine S-methyltransferase

An enzyme that catalyzes the demethylation of L-homocysteine to L-METHIONINE.

5-methyltetrahydrofolate-homocysteine S-methyltransferase

An enzyme that catalyzes the formation of methionine by transfer of a methyl group from 5-methyltetrahydrofolate to homocysteine. It requires a cobamide coenzyme. The enzyme can act on mono- or triglutamate derivatives. EC 2.1.1.13.

Betaine-homocysteine S-methyltransferase

A ZINC metalloenzyme that catalyzes the transfer of a methyl group from BETAINE to HOMOCYSTEINE to produce dimethylglycine and METHIONINE, respectively. This enzyme is a member of a family of ZINC-dependent METHYLTRANSFERASES that use THIOLS or selenols as methyl acceptors.

Hyperhomocysteinemia

Condition in which the plasma levels of homocysteine and related metabolites are elevated (>13.9 μmol/l). Hyperhomocysteinemia can be familial or acquired. Development of the acquired hyperhomocysteinemia is mostly associated with vitamins B and/or folate deficiency (e.g., PERNICIOUS ANEMIA, vitamin malabsorption). Familial hyperhomocysteinemia often results in a more severe elevation of total homocysteine and excretion into the urine, resulting in HOMOCYSTINURIA. Hyperhomocysteinemia is a risk factor for cardiovascular and neurodegenerative diseases, osteoporotic fractures and complications during pregnancy.

Melkersson-rosenthal Syndrome

An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531)

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