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.
References in periodicals archive ?
Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition.
A cross-sectional study to find out the relationship of methylenetetrahydrofolate reductase (MTHFR) C677T genotype with plasma levels of folate and total homocysteine by daily folate intake in Japanese.
6] Human genes: F5, coagulation factor V (proaccelerin, labile factor); F2, coagulation factor II (thrombin); MTHFR, methylenetetrahydrofolate reductase (NAD(P)H); PAH, phenylalanine hydroxylase; CFTR, cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7); BRCA1, breast cancer 1, early onset; KRAS, Kirsten rat sarcoma viral oncogene homolog; BRAF, v-raf murine sarcoma viral oncogene homolog B.
Alcohol consumption and genetic variation in methylenetetrahydrofolate reductase and 5-methyltetrahydrofolate-homocysteine methyltransferase in relation to breast cancer risk.
The C677T methylenetetrahydrofolate reductase genotype plasma homocysteine level in the control group and ankylosing spondylitis group Genotype Control n=120 AS n=200 t p n Hcy n Hcy ([mu])mol/l) ([mu]mol/l) 677CC 72 10.
On the other hand, C677T methylenetetrahydrofolate reductase gene mutation was also investigated as the cause of hyperhomocysteinemia in IBD and conflicting results were reported.
Ebisch IM, van Heerde WL, Thomas CM, van der Put N, Wong WY, Steegers-Theunissen RR C677T methylenetetrahydrofolate reductase polymorphism interferes with the effects of folic acid and zinc sulfate on sperm concentration.
Methylenetetrahydrofolate reductase (MTHFR): Nine thermostable mutations of the MTHFR gene, located on chromosome 1, inherited as an autosomal recessive trait, could be responsible for its reduced activity.
Subsequent laboratory testing on the mother revealed two abnormalities, a homozygous C677T mutation on the methylenetetrahydrofolate reductase enzyme (MTHFR) gene and elevated anti-cardiolipin antibodies.
The G20210A mutation of the prothrombin gene in patients with previous first episodes of deep vein thrombosis: prevalance and association with Factor V G1691 A, methylenetetrahydrofolate reductase C677T and plasma prothrombin levels.
Thermolabile Methylenetetrahydrofolate Reductase, Homocysteine, and Cardiovascular Disease Risk: The European Concerted Action Project" (2003) 77 American Journal of Clinical Nutrition 63.
Gene-gene interaction between the cystathionine betasynthase 31 base pair variable number of tandem repeats and the methylenetetrahydrofolate reductase 677C[right arrow]T polymorphism on homocysteine levels and risk for neural tube defects.