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 ?

Methylenetetrahydrofolate reductase (MTHFR; EC 1.5.1.20) is a key enzyme in folate and homocysteine (Hcy) metabolism (Bhaskar et al., 2011).

Interaction between MTHFR Polymorphisms and Maternal Age Increases the Risk of Congenital Heart Defects in Down Syndrome

Common mutation A1298C in human methylenetetrahydrofolate reductase gene: association with plasma total homocysteine and folate concentrations.

Cerebral vein thrombosis associated with MTHFR A1289C mutation gene in a young postpartum woman

Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: Epidemiology, metabolism and the associated diseases.

Severe Hyperhomocysteinemia with Two Novel Mutations of c.154T>C and c.457G>A in Cystathionine Beta-Synthase Gene

Homozygous methylenetetrahydrofolate reductase C677T mutation and male infertility.

Role of Folate in Healthy Human Brain Function

Methylenetetrahydrofolate reductase gene mutations as risk factors for sudden hearing loss.

Association between Uncoupling Protein 2 Gene Ala55val Polymorphism and Sudden Sensorineural Hearing Loss

The 677T allele and 677C/T genotype of methylenetetrahydrofolate reductase gene 677C>T polymorphism, which were over-represented in depression patients and were respectively associated with 1.82-fold (p=0.001) and 3.65-fold (p0.05).

Association of methylenetetrahydrofolate reductase gene 677C>T polymorphism with post-stroke depression risk and antidepressant treatment response in Han Chinese

Bennouar N, Allami A, Azeddoug H, Bendris A, Laraqui A, ElJaffali A, El-Kadiri N, Benzidia R, Benomar A, Fellat S, Benomar M (2007) Thermolabile Methylenetetrahydrofolate Reductase C677T Polymorphism and Homocysteine Are Risk Factors for Coronary Artery Disease in Moroccan Population.

ANALYSIS OF THE METHYLENETETRAHYDROFOLATE REDUCTASE C677T GENE POLYMORPHISM AND SERUM LIPID LEVELS IN YOUNG INDIVIDUALS OF NORTHEAST MEXICO/ANALISIS DEL POLIMORFISMO C677T DEL GEN METILENTETRAHIDROFOLATO-REDUCTASA Y NIVELES SERICOS DE LIPIDOS EN JOVENES DEL NORESTE DE MEXICO/ANALISE DO POLIMORFISMO C677T DO GENE METILENTETRAHIDROFOLATO-REDUCTASE E NIVEIS SERICOS DE LIPIDEOS EM JOVENS DO NORDESTE DO MEXICO

Kim et al., "The roles of methylenetetrahydrofolate reductase 677C>T and 1298A>C polymorphisms in moyamoya disease patients," Child's Nervous System, vol.

Hyperhomocysteinemia in a Patient with Moyamoya Disease

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

Literature Review & Commentary

Association between factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations and events of the arterial circulatory system: a meta-analysis of published studies.

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

Introduction: Recently in the complementary medicine profession there has been a major focus on genetic mutations in methylenetetrahydrofolate reductase (MTHFR) enzyme that are associated with elevated homocysteine levels.

Investigating the pharmacological connection between methylene tetrahydrofolate reductase (MTHFR) enzyme deficiency and use of complementary medicine supplements such as activated B vitamins

These are methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), and methionine synthase reductase (MTRR).

Major Polymorphisms of Genes Involved in Homocysteine Metabolism in Malaria Patients in Ouagadougou, Burkina Faso