MTHFR

(redirected from 5,10-methylenetetrahydrofolate reductase)

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 ?
Estandia-Ortega B, Velazquez-Aragon J, Alcantara-Ortigoza M, Reyna-Fabian M, Villagomez-Martinez S, Gonzalez-Del Angel A (2014) 5,10-Methylenetetrahydrofolate reductase single nucleotide polymorphisms and gene-environment interaction analysis in non-syndromic cleft lip/palate.
Iascone et al., "Association between 5,10-methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and conotruncal heart defects," Clinical Chemistry and Laboratory Medicine, vol.
BACKGROUND AND PURPOSE: 5,10-Methylenetetrahydrofolate reductase (MTHFR) is responsible for the synthesis of 5-methyltetrahydrofolate (5-MTHF).
5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A-->C mutations are associated with DNA hypomethylation.
5,10-Methylenetetrahydrofolate reductase polymorphisms and the risk of pancreatic cancer.
Another concern about folic acid is that some people, such as the 5% to 15% of the population that is homozygous for the 677C [right arrow] T polymorphism of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, might have difficulty converting folic acid to its biologically active form, and therefore might not benefit sufficiently from folic acid supplementation.
5,10-methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.
Mlinaric-Rascan, "5,10-methylenetetrahydrofolate reductase (MTHFR) low activity genotypes reduce the risk of relapse-related acute lymphoblastic leukemia (ALL)," Leukemia Research, vol.
[7] Engbersen AMT, Franken DG, Boers GHJ, et al: Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia: Am J Hum Genet 1995; 56: 142-150.