MTHFR


Also found in: Acronyms.

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 ?
sup][6],[12] Previous studies also highlighted the role of MTHFR mutation in hyperhomocysteinemia.
Another crossover study compared folic acid and the active 5-MTHF in women with both the typical gene variant for MTHFR and the weaker gene variant.
MTHFR deficiency is one of the common causes of hyperhomocysteinemia.
Deficiency of folic acid or mutation in MTHFR enzyme can result in raised serum homocysteine level.
The patient in question has a MTHFR C 667 T mutation in a heterozygote form.
SNPs of ABO T>C (rs505922), F5 C>G (rs6427196), MTHFR G>A (rs1801133), and FGG T>C (rs6536024) were genotyped using custom TaqMan[R] assays with a 7500[TM] real-time cycler according to manufacturer's instructions (Life Technologies, CA, USA).
The aim of this study was to analyze the frequencies of MTHFR C677T and A1298C polymorphisms in male partners of RM couples whose female partners suffered from extensive mutations in MTHFR, compared to those in control couples.
Para establecer la relacion entre la presencia del alelo T en el polimorfismo 677C>T en el gen de la MTHFR y el incremento de riesgo de DTN, se compararon las frecuencias de los genotipos con la variante (CT y TT) con el genotipo normal (CC), en el grupo problema y el control.
It has been suggested that MTHFR C677T polymorphism involves the entire genome or specific CpG regions, (13) affecting global methylation and thereby increasing the risk of cancer.
Factor V Leiden gene mutation was found to be positive only in three patients including our patient, but MTHFR gene mutation was observed only in our patient (Table 1).
AS3MT methylates the trivalent As species; MTHFR catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate and ultimately promotes the formation of SAM; and CBS is involved in the conversion of homocysteine to cystathionine, a substrate for glutathione synthesis.