MTHFR

(redirected from Methylenetetrahydrofolate reductase)
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MTHFR

A gene on chromosome 1p36.3 that encodes an enzyme which converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine.

Molecular pathology
Defects in MTHFR cause methylenetetrahydrofolate reductase deficiency and increase suceptibility to ischaemic strokes and folate-sensitive neural tube defects.
References in periodicals archive ?
Possible association between germline methylenetetrahydrofolate reductase gene polymorphisms and psoriasis risk in a Turkish population.
Factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations are not associated with chronic limb ischemia: the Linz Peripheral Arterial Disease (LIPAD) study.
Homocysteine, methylenetetrahydrofolate reductase, folate status and atherothrombosis: A mechanistic and clinical perspective.
Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations.
A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity.
Chang, "Clinical implications of methylenetetrahydrofolate reductase mutations and plasma homocysteine levels in patients with thromboembolic occlusion," Vascular Specialist International, vol.
Plasminogen activator inhibitor 1 and methylenetetrahydrofolate reductase gene mutations in iranian women with polycystic ovary syndrome.
Relationships between homocysteine, folate and vitamina B12 levels with the methylenetetrahydrofolate reductase poly-morphism, in Indians from Western Venezuela.
Methylenetetrahydrofolate reductase 677C/T gene polymorphism, gastric cancer susceptibility and genomic DNA hypomethylation in an at-risk Italian population.
Homozygous Factor V Leiden and Methylenetetrahydrofolate reductase mutations were found in this patient.
7) MTHFR: Methylenetetrahydrofolate reductase (MTHFR) genetic tests (via saliva or blood) are a refinement on homocysteine blood tests.
Among genes taking part in folate metabolism, the methylenetetrahydrofolate reductase gene (MTHFR) has been the most frequent one which is associated with nsCL/P (12-14).