MTHFR

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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.

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References in periodicals archive ?

Possible association between germline methylenetetrahydrofolate reductase gene polymorphisms and psoriasis risk in a Turkish population.

Literature Review & Commentary

Factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations are not associated with chronic limb ischemia: the Linz Peripheral Arterial Disease (LIPAD) study.

Brachial artery thrombosis mimicking De Quervain's syndrome: a case report

Homocysteine, methylenetetrahydrofolate reductase, folate status and atherothrombosis: A mechanistic and clinical perspective.

Homocysteine: A Potential Common Route for Cardiovascular Risk and DNA Methylation in Psoriasis

Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations.

Homocysteine and Brain Aging

A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity.

Intracardiac and intracerebral thrombosis associated with methylenetetrahydrofolate reductase A1298C homozygote mutation in paediatric steroid-resistant nephrotic syndrome

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.

Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms in male partners of recurrent miscarriage couples

Relationships between homocysteine, folate and vitamina B12 levels with the methylenetetrahydrofolate reductase poly-morphism, in Indians from Western Venezuela.

Polimorfismo C677T del gen de la metilentetrahidrofolato reductasa en madres de ninos afectados con defectos del tubo neural

Methylenetetrahydrofolate reductase 677C/T gene polymorphism, gastric cancer susceptibility and genomic DNA hypomethylation in an at-risk Italian population.

Could menthylation be considered a cancer screening tool?

Homozygous Factor V Leiden and Methylenetetrahydrofolate reductase mutations were found in this patient.

A case of neonatal arterial thrombosis mimicking interrupted aortic arch

7) MTHFR: Methylenetetrahydrofolate reductase (MTHFR) genetic tests (via saliva or blood) are a refinement on homocysteine blood tests.

Dr. Ronald Hoffman Details the 13 Medical Tests You Need But Are Not Getting

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).

Maternal supplementary folate intake, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and the risk of orofacial cleft in Iranian children